Incidental Mutation 'FR4589:Spag17'
| ID |
511330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag17
|
| Ensembl Gene |
ENSMUSG00000027867 |
| Gene Name |
sperm associated antigen 17 |
| Synonyms |
PF6, 4931427F14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
FR4589 ()
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
99792722-100050638 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GGA to GGATGA
at 99963574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164539]
|
| AlphaFold |
Q5S003 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164539
|
| SMART Domains |
Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
coiled coil region
|
909 |
964 |
N/A |
INTRINSIC |
|
coiled coil region
|
1079 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1209 |
1220 |
N/A |
INTRINSIC |
|
low complexity region
|
1223 |
1238 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1405 |
N/A |
INTRINSIC |
|
low complexity region
|
1931 |
1942 |
N/A |
INTRINSIC |
|
Pfam:PapD-like
|
2171 |
2277 |
1.2e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.4%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygous null mice exhibit immotile respiratory cilia with axoneme structural defects, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelium, enlarged brain ventricles consistent with evolving hydrocephalus, failure to suckle, and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 125 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
A |
15: 85,378,508 (GRCm39) |
E45V |
unknown |
Homo |
| A530064D06Rik |
GTAGGAAGCTTAG |
GTAG |
17: 48,470,549 (GRCm39) |
|
probably benign |
Homo |
| Anxa2 |
C |
CCCA |
9: 69,387,492 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
GTTT |
GTTTTTTT |
15: 76,935,638 (GRCm39) |
|
probably null |
Het |
| Arrb2 |
C |
T |
11: 70,329,497 (GRCm39) |
T269M |
probably damaging |
Homo |
| AY761185 |
CACTGTGGG |
C |
8: 21,433,919 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,400,323 (GRCm39) |
V431I |
probably benign |
Homo |
| Blm |
TACC |
TACCGACC |
7: 80,113,518 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
AGA |
AGAGGA |
11: 58,814,755 (GRCm39) |
|
probably benign |
Homo |
| Btnl4 |
T |
A |
17: 34,691,610 (GRCm39) |
K293M |
probably benign |
Het |
| Catsper2 |
TGTC |
TGTCGTC |
2: 121,228,260 (GRCm39) |
|
probably benign |
Het |
| Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
ATTTAT |
ATTTATTTATTTCTTTAT |
9: 78,619,811 (GRCm39) |
|
probably benign |
Het |
| Cd164 |
G |
T |
10: 41,397,922 (GRCm39) |
A59S |
probably benign |
Homo |
| Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Homo |
| Chd4 |
C |
T |
6: 125,099,096 (GRCm39) |
P1597L |
probably benign |
Homo |
| Chd4 |
CCCCTGCCCCTGCCACTGCCCCTGCC |
CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC |
6: 125,099,102 (GRCm39) |
|
probably benign |
Homo |
| Chga |
AGC |
AGCTGC |
12: 102,527,661 (GRCm39) |
|
probably benign |
Het |
| Cluh |
AGCC |
AGCCTGGGCC |
11: 74,560,357 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
ACCC |
ACCCCCC |
17: 47,047,665 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CCCAGC |
CCCAGCTCCAGC |
11: 101,080,392 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,407 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCCC |
CAGCCCGAGCCC |
11: 101,080,406 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,401 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,811,373 (GRCm39) |
N715K |
unknown |
Homo |
| Cttnbp2 |
ATT |
ATTTCTGTT |
6: 18,367,457 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,730 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,733 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGCGGAGG |
9: 99,465,736 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GGAGGA |
GGAGGAAGAGGA |
9: 99,465,749 (GRCm39) |
|
probably benign |
Het |
| Dclre1a |
AGGCTTTG |
AG |
19: 56,532,555 (GRCm39) |
|
probably benign |
Het |
| Dcpp1 |
A |
C |
17: 24,100,428 (GRCm39) |
K53Q |
probably benign |
Het |
| Dhx8 |
CGAGAC |
CGAGACAGAGAC |
11: 101,629,014 (GRCm39) |
|
probably benign |
Homo |
| Dnaaf9 |
CC |
CCTGC |
2: 130,612,672 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
TCC |
TCCCCC |
2: 130,612,665 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
| Dthd1 |
C |
CTT |
5: 63,000,369 (GRCm39) |
|
probably null |
Homo |
| Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,075 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
AC |
ACTCGC |
6: 137,494,067 (GRCm39) |
|
probably null |
Het |
| Ermn |
TTC |
TTCATC |
2: 57,938,081 (GRCm39) |
|
probably benign |
Het |
| Fam81b |
TC |
TCTCC |
13: 76,419,442 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
TG |
TGCGTGTGCTGGCG |
5: 110,526,016 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
CCTGTG |
CCTGTGTCTGTG |
15: 36,152,247 (GRCm39) |
|
probably benign |
Het |
| Fbxo43 |
GCCTGT |
GCCTGTTCCTGT |
15: 36,152,246 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
CTCCTC |
CTCCTCTTCCTC |
2: 113,356,118 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
TCCTCC |
TCCTCCCCCTCC |
2: 113,356,119 (GRCm39) |
|
probably benign |
Het |
| Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
| Gabre |
GCTCCGACTCCGACTCCG |
GCTCCGACTCCGACTCCGACTCCG |
X: 71,313,636 (GRCm39) |
|
probably benign |
Homo |
| Gabre |
ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC |
ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC |
X: 71,313,648 (GRCm39) |
|
probably benign |
Homo |
| Gbp2b |
A |
G |
3: 142,309,413 (GRCm39) |
I175V |
probably benign |
Het |
| Gm4340 |
AG |
AGCCG |
10: 104,031,961 (GRCm39) |
|
probably benign |
Het |
| Gm4340 |
CAG |
CAGTAG |
10: 104,031,939 (GRCm39) |
|
probably null |
Het |
| Gm4340 |
AGC |
AGCCGC |
10: 104,031,940 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Het |
| Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
| Ipo9 |
TCC |
TCCCCC |
1: 135,314,019 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
CCATC |
CCATCATC |
1: 135,314,004 (GRCm39) |
|
probably benign |
Het |
| Isg20l2 |
GAAA |
GAAAAAA |
3: 87,839,024 (GRCm39) |
|
probably benign |
Homo |
| Klra9 |
C |
G |
6: 130,159,366 (GRCm39) |
D216H |
probably benign |
Het |
| Kmt2b |
TCC |
TCCTCCGCC |
7: 30,285,806 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
CCTCCT |
CCTCCTGCTCCT |
7: 30,285,786 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
CCTCCT |
CCTCCTACTCCT |
7: 30,285,789 (GRCm39) |
|
probably null |
Het |
| Krt10 |
TCC |
TCCGCCGCC |
11: 99,280,102 (GRCm39) |
|
probably benign |
Het |
| Las1l |
TC |
TCTTCCAC |
X: 94,984,231 (GRCm39) |
|
probably benign |
Het |
| Las1l |
TCTTCC |
TCTTCCGCTTCC |
X: 94,984,225 (GRCm39) |
|
probably benign |
Het |
| Las1l |
TTCCTCCTCCTC |
TTCCTC |
X: 94,984,227 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCCACC |
TGCTGCCACCACGGCTGCCACC |
3: 92,925,575 (GRCm39) |
|
probably benign |
Homo |
| Loricrin |
GCCGCCGCC |
GC |
3: 91,989,201 (GRCm39) |
|
probably null |
Het |
| Lrit3 |
AC |
ACATCC |
3: 129,597,562 (GRCm39) |
|
probably null |
Het |
| Lrrc63 |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
14: 75,362,622 (GRCm39) |
|
probably benign |
Homo |
| Mapk7 |
GG |
GGTGCTAG |
11: 61,381,048 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Nacad |
GGGTCA |
GGGTCATGGTCA |
11: 6,549,753 (GRCm39) |
|
probably benign |
Het |
| Ndufc2 |
G |
C |
7: 97,049,497 (GRCm39) |
M34I |
probably benign |
Het |
| Nphp3 |
CACG |
C |
9: 103,903,138 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
AG |
AGCCTTTG |
14: 38,119,223 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
TTTTGTTTT |
TTTTGTTTTGTGTTTGTTTT |
4: 134,006,680 (GRCm39) |
|
probably null |
Homo |
| Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGATTTTGTTTT |
4: 134,006,679 (GRCm39) |
|
probably null |
Homo |
| Phaf1 |
G |
A |
8: 105,967,730 (GRCm39) |
G207E |
probably benign |
Homo |
| Plekhs1 |
AC |
ACCTCCCCCGAGGC |
19: 56,468,295 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
CCGC |
CCGCCGC |
8: 36,571,037 (GRCm39) |
|
probably benign |
Homo |
| Prtg |
G |
A |
9: 72,764,147 (GRCm39) |
R540Q |
probably damaging |
Het |
| Raet1d |
T |
TCCTCTCTGGTAG |
10: 22,246,817 (GRCm39) |
|
probably null |
Homo |
| Rhbdf1 |
A |
ATTTT |
11: 32,164,391 (GRCm39) |
|
probably benign |
Het |
| Rps19 |
AAAATT |
AAAATTGAAATT |
7: 24,588,607 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GGCAGC |
GGCAGCCGCAGC |
8: 85,682,800 (GRCm39) |
|
probably benign |
Het |
| Scaf4 |
TGCGGC |
TGC |
16: 90,026,742 (GRCm39) |
|
probably benign |
Homo |
| Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
| Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
| Shf |
TCT |
TCTGCT |
2: 122,184,658 (GRCm39) |
|
probably benign |
Homo |
| Shroom4 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
X: 6,536,115 (GRCm39) |
|
probably benign |
Homo |
| Six3 |
CGG |
CGGAGG |
17: 85,928,793 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
TCT |
TCTCCT |
9: 66,012,208 (GRCm39) |
|
probably benign |
Homo |
| Speer4a1 |
C |
A |
5: 26,241,746 (GRCm39) |
E127* |
probably null |
Het |
| Sry |
ACTG |
ACTGCTG |
Y: 2,662,818 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
A |
AGCAGCT |
3: 54,635,092 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCATCAGCA |
3: 54,635,072 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,635,076 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GGGTA |
G |
18: 60,961,722 (GRCm39) |
|
probably benign |
Homo |
| Tert |
C |
CAAGGGTGCG |
13: 73,796,423 (GRCm39) |
|
probably benign |
Het |
| Tmbim7 |
C |
T |
5: 3,720,064 (GRCm39) |
R100C |
possibly damaging |
Het |
| Tmed6 |
C |
CTAGA |
8: 107,788,230 (GRCm39) |
|
probably null |
Homo |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CA |
CAGCAA |
11: 94,105,303 (GRCm39) |
|
probably null |
Het |
| Trcg1 |
AGCTCCTGTGTCTGT |
A |
9: 57,149,485 (GRCm39) |
|
probably null |
Homo |
| Trim16 |
A |
AAGC |
11: 62,711,521 (GRCm39) |
|
probably benign |
Homo |
| Tsbp1 |
GCA |
GCACCA |
17: 34,679,027 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
AGC |
AGCCGC |
17: 34,679,047 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
GTGA |
G |
2: 121,005,944 (GRCm39) |
|
probably benign |
Het |
| Tusc1 |
ACCGCC |
ACCGCCCCCGCC |
4: 93,223,544 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTCTTC |
CTCTTCTTC |
11: 102,197,769 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
GTGG |
GTGGAGTCCTGGTTGG |
17: 35,234,964 (GRCm39) |
|
probably benign |
Homo |
| Vmn2r52 |
C |
T |
7: 9,892,947 (GRCm39) |
E731K |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
| Zc3h13 |
GTGCGAGAT |
GTGCGAGATTTGCGAGAT |
14: 75,561,038 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
CGGGATGTGCG |
CGGGATGTGCGGGATGTGCG |
14: 75,561,032 (GRCm39) |
|
probably benign |
Homo |
| Zc3h13 |
TGTGCGAG |
TGTGCGAGGAGTGCGAG |
14: 75,561,037 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCA |
CAGCAACAGAAGCA |
8: 109,682,733 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
GGC |
GGCAGC |
6: 47,881,725 (GRCm39) |
|
probably benign |
Het |
| Zfp459 |
GA |
GAGTTA |
13: 67,556,394 (GRCm39) |
|
probably null |
Homo |
| Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,899,753 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
TCC |
TCCCCC |
2: 174,487,261 (GRCm39) |
|
probably benign |
Het |
| Zfp997 |
G |
A |
13: 66,270,022 (GRCm39) |
S396N |
probably benign |
Het |
|
| Other mutations in Spag17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Spag17
|
APN |
3 |
99,970,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01143:Spag17
|
APN |
3 |
99,846,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01329:Spag17
|
APN |
3 |
100,002,865 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01393:Spag17
|
APN |
3 |
99,934,926 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01617:Spag17
|
APN |
3 |
100,016,824 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01705:Spag17
|
APN |
3 |
99,930,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01928:Spag17
|
APN |
3 |
99,847,390 (GRCm39) |
splice site |
probably benign |
|
|
IGL01981:Spag17
|
APN |
3 |
99,966,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02435:Spag17
|
APN |
3 |
99,889,760 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02452:Spag17
|
APN |
3 |
99,934,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02465:Spag17
|
APN |
3 |
99,983,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02615:Spag17
|
APN |
3 |
99,979,401 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02751:Spag17
|
APN |
3 |
99,918,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL02803:Spag17
|
APN |
3 |
100,016,713 (GRCm39) |
missense |
probably benign |
|
|
IGL02898:Spag17
|
APN |
3 |
100,008,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03037:Spag17
|
APN |
3 |
99,979,486 (GRCm39) |
splice site |
probably null |
|
|
IGL03068:Spag17
|
APN |
3 |
99,987,521 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03131:Spag17
|
APN |
3 |
99,918,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03224:Spag17
|
APN |
3 |
99,918,156 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
FR4342:Spag17
|
UTSW |
3 |
99,963,568 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Spag17
|
UTSW |
3 |
99,963,565 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Spag17
|
UTSW |
3 |
99,963,570 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Spag17
|
UTSW |
3 |
99,963,561 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Spag17
|
UTSW |
3 |
99,963,573 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Spag17
|
UTSW |
3 |
99,963,571 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Spag17
|
UTSW |
3 |
99,963,570 (GRCm39) |
small insertion |
probably benign |
|
|
N/A:Spag17
|
UTSW |
3 |
99,889,570 (GRCm39) |
splice site |
probably benign |
|
|
PIT4504001:Spag17
|
UTSW |
3 |
100,010,426 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4514001:Spag17
|
UTSW |
3 |
99,920,527 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0107:Spag17
|
UTSW |
3 |
99,958,103 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0230:Spag17
|
UTSW |
3 |
100,014,143 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0243:Spag17
|
UTSW |
3 |
99,992,684 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0321:Spag17
|
UTSW |
3 |
100,008,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0375:Spag17
|
UTSW |
3 |
99,934,906 (GRCm39) |
missense |
probably benign |
|
|
R0417:Spag17
|
UTSW |
3 |
99,972,870 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0490:Spag17
|
UTSW |
3 |
99,889,727 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0537:Spag17
|
UTSW |
3 |
100,032,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0714:Spag17
|
UTSW |
3 |
99,987,472 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0844:Spag17
|
UTSW |
3 |
99,912,101 (GRCm39) |
missense |
probably benign |
|
|
R0919:Spag17
|
UTSW |
3 |
99,979,259 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Spag17
|
UTSW |
3 |
99,979,432 (GRCm39) |
missense |
probably benign |
|
|
R1037:Spag17
|
UTSW |
3 |
100,010,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1075:Spag17
|
UTSW |
3 |
100,000,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1109:Spag17
|
UTSW |
3 |
99,934,667 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1213:Spag17
|
UTSW |
3 |
100,002,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1221:Spag17
|
UTSW |
3 |
99,889,584 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1576:Spag17
|
UTSW |
3 |
99,846,679 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1586:Spag17
|
UTSW |
3 |
99,929,068 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1768:Spag17
|
UTSW |
3 |
99,934,668 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1782:Spag17
|
UTSW |
3 |
99,918,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1789:Spag17
|
UTSW |
3 |
99,846,672 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1945:Spag17
|
UTSW |
3 |
99,847,298 (GRCm39) |
missense |
probably benign |
|
|
R2065:Spag17
|
UTSW |
3 |
99,920,524 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2118:Spag17
|
UTSW |
3 |
99,956,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2265:Spag17
|
UTSW |
3 |
99,969,182 (GRCm39) |
splice site |
probably null |
|
|
R2266:Spag17
|
UTSW |
3 |
99,969,182 (GRCm39) |
splice site |
probably null |
|
|
R2267:Spag17
|
UTSW |
3 |
99,969,182 (GRCm39) |
splice site |
probably null |
|
|
R2268:Spag17
|
UTSW |
3 |
99,969,182 (GRCm39) |
splice site |
probably null |
|
|
R2271:Spag17
|
UTSW |
3 |
100,014,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2389:Spag17
|
UTSW |
3 |
100,014,153 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2420:Spag17
|
UTSW |
3 |
99,934,935 (GRCm39) |
missense |
probably benign |
|
|
R2422:Spag17
|
UTSW |
3 |
99,934,935 (GRCm39) |
missense |
probably benign |
|
|
R2423:Spag17
|
UTSW |
3 |
100,010,772 (GRCm39) |
missense |
probably benign |
|
|
R3407:Spag17
|
UTSW |
3 |
99,992,615 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3801:Spag17
|
UTSW |
3 |
99,961,169 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3856:Spag17
|
UTSW |
3 |
100,014,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Spag17
|
UTSW |
3 |
99,956,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4022:Spag17
|
UTSW |
3 |
99,956,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4408:Spag17
|
UTSW |
3 |
100,010,694 (GRCm39) |
missense |
probably benign |
|
|
R4468:Spag17
|
UTSW |
3 |
99,992,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4540:Spag17
|
UTSW |
3 |
99,995,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Spag17
|
UTSW |
3 |
100,010,559 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4622:Spag17
|
UTSW |
3 |
100,010,559 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4756:Spag17
|
UTSW |
3 |
100,010,701 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4797:Spag17
|
UTSW |
3 |
99,891,795 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4855:Spag17
|
UTSW |
3 |
99,970,649 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4887:Spag17
|
UTSW |
3 |
99,958,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Spag17
|
UTSW |
3 |
99,934,939 (GRCm39) |
missense |
probably benign |
|
|
R5030:Spag17
|
UTSW |
3 |
99,992,657 (GRCm39) |
nonsense |
probably null |
|
|
R5042:Spag17
|
UTSW |
3 |
99,979,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Spag17
|
UTSW |
3 |
99,987,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5195:Spag17
|
UTSW |
3 |
100,008,704 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5200:Spag17
|
UTSW |
3 |
99,970,787 (GRCm39) |
nonsense |
probably null |
|
|
R5267:Spag17
|
UTSW |
3 |
99,969,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5360:Spag17
|
UTSW |
3 |
100,016,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5444:Spag17
|
UTSW |
3 |
99,963,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5498:Spag17
|
UTSW |
3 |
100,010,661 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5503:Spag17
|
UTSW |
3 |
99,934,560 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5540:Spag17
|
UTSW |
3 |
99,963,588 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5547:Spag17
|
UTSW |
3 |
99,963,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5575:Spag17
|
UTSW |
3 |
99,961,138 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5629:Spag17
|
UTSW |
3 |
99,987,435 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5639:Spag17
|
UTSW |
3 |
99,963,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Spag17
|
UTSW |
3 |
99,846,566 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5976:Spag17
|
UTSW |
3 |
100,003,107 (GRCm39) |
nonsense |
probably null |
|
|
R6082:Spag17
|
UTSW |
3 |
100,031,501 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6228:Spag17
|
UTSW |
3 |
99,929,918 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6254:Spag17
|
UTSW |
3 |
99,972,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6321:Spag17
|
UTSW |
3 |
99,995,743 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6446:Spag17
|
UTSW |
3 |
100,010,448 (GRCm39) |
missense |
probably benign |
|
|
R6687:Spag17
|
UTSW |
3 |
100,000,266 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6853:Spag17
|
UTSW |
3 |
99,920,551 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6946:Spag17
|
UTSW |
3 |
99,911,999 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6953:Spag17
|
UTSW |
3 |
99,942,291 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7038:Spag17
|
UTSW |
3 |
99,891,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7084:Spag17
|
UTSW |
3 |
99,846,586 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7126:Spag17
|
UTSW |
3 |
100,008,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7144:Spag17
|
UTSW |
3 |
99,934,717 (GRCm39) |
splice site |
probably null |
|
|
R7198:Spag17
|
UTSW |
3 |
100,002,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7318:Spag17
|
UTSW |
3 |
99,847,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7403:Spag17
|
UTSW |
3 |
99,846,691 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7409:Spag17
|
UTSW |
3 |
99,941,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7409:Spag17
|
UTSW |
3 |
99,934,547 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7537:Spag17
|
UTSW |
3 |
99,846,563 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7609:Spag17
|
UTSW |
3 |
100,002,911 (GRCm39) |
nonsense |
probably null |
|
|
R7772:Spag17
|
UTSW |
3 |
99,987,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7842:Spag17
|
UTSW |
3 |
99,961,174 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7963:Spag17
|
UTSW |
3 |
99,929,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8168:Spag17
|
UTSW |
3 |
99,942,300 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8291:Spag17
|
UTSW |
3 |
99,968,166 (GRCm39) |
missense |
probably benign |
|
|
R8347:Spag17
|
UTSW |
3 |
99,934,957 (GRCm39) |
missense |
probably benign |
|
|
R8383:Spag17
|
UTSW |
3 |
99,992,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8474:Spag17
|
UTSW |
3 |
99,934,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8528:Spag17
|
UTSW |
3 |
100,031,501 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8804:Spag17
|
UTSW |
3 |
99,874,506 (GRCm39) |
missense |
probably benign |
|
|
R8809:Spag17
|
UTSW |
3 |
99,889,738 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8818:Spag17
|
UTSW |
3 |
99,920,543 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8830:Spag17
|
UTSW |
3 |
100,032,751 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8890:Spag17
|
UTSW |
3 |
99,911,994 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9008:Spag17
|
UTSW |
3 |
99,934,942 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9095:Spag17
|
UTSW |
3 |
99,912,092 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9143:Spag17
|
UTSW |
3 |
99,934,906 (GRCm39) |
missense |
probably benign |
|
|
R9182:Spag17
|
UTSW |
3 |
99,966,158 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9211:Spag17
|
UTSW |
3 |
100,032,614 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9344:Spag17
|
UTSW |
3 |
100,010,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9354:Spag17
|
UTSW |
3 |
99,934,905 (GRCm39) |
missense |
probably benign |
|
|
R9527:Spag17
|
UTSW |
3 |
99,970,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Spag17
|
UTSW |
3 |
99,934,932 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9738:Spag17
|
UTSW |
3 |
99,934,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0025:Spag17
|
UTSW |
3 |
100,008,767 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1088:Spag17
|
UTSW |
3 |
100,002,946 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Spag17
|
UTSW |
3 |
99,920,309 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Spag17
|
UTSW |
3 |
99,995,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCAGCTGCTGTCTAATTC -3'
(R):5'- AGTACAAAGGATGCGTGTGC -3'
Sequencing Primer
(F):5'- CCACTAGCATTTTGTCAAGGTG -3'
(R):5'- GTGCAGTTCTGTCCAGAGC -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation