Incidental Mutation 'R4810:Spg11'
| ID |
370965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spg11
|
| Ensembl Gene |
ENSMUSG00000033396 |
| Gene Name |
SPG11, spatacsin vesicle trafficking associated |
| Synonyms |
6030465E24Rik, C530005A01Rik, spastic paraplegia 11 |
| MMRRC Submission |
042429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R4810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121890277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 2070
(F2070V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028668]
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028668
|
| SMART Domains |
Protein: ENSMUSP00000028668
Gene: ENSMUSG00000027236
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF3_subunit
|
14 |
261 |
7.5e-66 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036450
AA Change: F2070V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: F2070V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1305 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
|
low complexity region
|
1772 |
1784 |
N/A |
INTRINSIC |
|
Pfam:Spatacsin_C
|
2082 |
2374 |
1.1e-105 |
PFAM |
|
| Meta Mutation Damage Score |
0.3407 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
99% (93/94) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10)
|
| Other mutations in this stock |
Total: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,236,216 (GRCm39) |
V1189A |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,649,356 (GRCm39) |
|
probably null |
Het |
| Abca12 |
T |
C |
1: 71,342,771 (GRCm39) |
D903G |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,287,471 (GRCm39) |
M125V |
probably damaging |
Het |
| Adad1 |
A |
G |
3: 37,146,183 (GRCm39) |
N517S |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,774,302 (GRCm39) |
|
probably benign |
Het |
| Armc7 |
A |
G |
11: 115,379,787 (GRCm39) |
I162V |
probably benign |
Het |
| Art3 |
T |
A |
5: 92,562,108 (GRCm39) |
V343D |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,419,650 (GRCm39) |
T1106A |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,876,099 (GRCm39) |
N644D |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,472 (GRCm39) |
L98S |
probably damaging |
Het |
| Ccne1 |
A |
G |
7: 37,799,018 (GRCm39) |
W237R |
probably damaging |
Het |
| Cd33 |
T |
C |
7: 43,182,134 (GRCm39) |
I104V |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,173,945 (GRCm39) |
*237K |
probably null |
Het |
| Ces1e |
T |
A |
8: 93,935,259 (GRCm39) |
I398F |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,271,898 (GRCm39) |
I1217T |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,363,224 (GRCm39) |
S199P |
probably benign |
Het |
| Cntn4 |
C |
A |
6: 106,632,572 (GRCm39) |
T532K |
probably benign |
Het |
| Col11a2 |
C |
T |
17: 34,276,086 (GRCm39) |
S470L |
probably damaging |
Het |
| Cst5 |
A |
T |
2: 149,247,463 (GRCm39) |
R60* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,227 (GRCm39) |
D83V |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,975,296 (GRCm39) |
V774A |
probably damaging |
Het |
| Dusp15 |
A |
G |
2: 152,787,374 (GRCm39) |
L79P |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,377,327 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,705,011 (GRCm39) |
V1511E |
possibly damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Fam227b |
A |
G |
2: 125,829,859 (GRCm39) |
F450L |
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,306,589 (GRCm39) |
L452Q |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,240,903 (GRCm39) |
Y199C |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,443,126 (GRCm39) |
S149P |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,781,325 (GRCm39) |
E362G |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,819,116 (GRCm39) |
I325V |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10088 |
G |
T |
16: 18,847,081 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
T |
C |
7: 24,714,922 (GRCm39) |
N691D |
probably damaging |
Het |
| Grm1 |
C |
G |
10: 10,658,438 (GRCm39) |
D351H |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,761,295 (GRCm39) |
S310G |
possibly damaging |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,510 (GRCm39) |
|
probably null |
Het |
| Hhex |
G |
T |
19: 37,428,103 (GRCm39) |
L49F |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,247,304 (GRCm39) |
R159S |
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,615,281 (GRCm39) |
Y454C |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,212,248 (GRCm39) |
|
probably null |
Het |
| Larp4b |
A |
G |
13: 9,208,627 (GRCm39) |
T427A |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,448,046 (GRCm39) |
N297K |
probably benign |
Het |
| Nek8 |
G |
A |
11: 78,058,629 (GRCm39) |
T557I |
probably benign |
Het |
| Nlrp9c |
A |
C |
7: 26,077,602 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
A |
19: 18,617,273 (GRCm39) |
D48E |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,131,759 (GRCm39) |
T365I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or8b44 |
C |
A |
9: 38,410,620 (GRCm39) |
Y218* |
probably null |
Het |
| Or8c9 |
A |
G |
9: 38,241,690 (GRCm39) |
E269G |
probably benign |
Het |
| Otud7b |
C |
T |
3: 96,043,918 (GRCm39) |
A23V |
probably damaging |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,601 (GRCm39) |
A477T |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,744,173 (GRCm39) |
I663N |
probably damaging |
Het |
| Plscr1l1 |
A |
G |
9: 92,236,683 (GRCm39) |
D190G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,003 (GRCm39) |
S732R |
possibly damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,751,551 (GRCm39) |
I1166V |
probably benign |
Het |
| Ppp2r5a |
C |
T |
1: 191,088,589 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,897,011 (GRCm39) |
K401E |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,218,204 (GRCm39) |
Y611H |
possibly damaging |
Het |
| Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,406 (GRCm39) |
C443S |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,841,778 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
C |
10: 39,699,721 (GRCm39) |
L1406P |
probably benign |
Het |
| Rnaset2b |
T |
A |
17: 7,259,167 (GRCm39) |
D48E |
probably benign |
Het |
| Rnf13 |
G |
T |
3: 57,703,693 (GRCm39) |
M105I |
probably damaging |
Het |
| Rnf150 |
T |
C |
8: 83,716,991 (GRCm39) |
V166A |
possibly damaging |
Het |
| Rps6kc1 |
C |
A |
1: 190,541,160 (GRCm39) |
R381L |
probably damaging |
Het |
| Rspo2 |
C |
T |
15: 43,033,216 (GRCm39) |
R2H |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,425,416 (GRCm39) |
D103G |
probably damaging |
Het |
| Sirt4 |
A |
G |
5: 115,618,508 (GRCm39) |
W189R |
probably damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,350,979 (GRCm39) |
V110A |
possibly damaging |
Het |
| Sncaip |
C |
A |
18: 53,040,271 (GRCm39) |
Q822K |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,669,971 (GRCm39) |
Y452* |
probably null |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,441,073 (GRCm39) |
|
probably null |
Het |
| Tmem156 |
G |
T |
5: 65,248,790 (GRCm39) |
|
probably benign |
Het |
| Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
| Tmem260 |
A |
G |
14: 48,709,930 (GRCm39) |
E51G |
probably damaging |
Het |
| Trim36 |
G |
T |
18: 46,305,536 (GRCm39) |
N470K |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,685,692 (GRCm39) |
T158S |
probably benign |
Het |
| Ube2c |
A |
G |
2: 164,614,482 (GRCm39) |
*180W |
probably null |
Het |
| Ube2i |
T |
C |
17: 25,484,121 (GRCm39) |
D45G |
probably benign |
Het |
| Uggt2 |
A |
C |
14: 119,250,933 (GRCm39) |
L1188R |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,340,135 (GRCm39) |
I680T |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,044,883 (GRCm39) |
M88L |
probably damaging |
Het |
| Zfp248 |
G |
A |
6: 118,406,807 (GRCm39) |
R261C |
possibly damaging |
Het |
| Zfp418 |
G |
T |
7: 7,185,846 (GRCm39) |
R603L |
possibly damaging |
Het |
| Zmpste24 |
T |
A |
4: 120,918,251 (GRCm39) |
Y457F |
probably damaging |
Het |
|
| Other mutations in Spg11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Spg11
|
APN |
2 |
121,896,041 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00495:Spg11
|
APN |
2 |
121,924,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00757:Spg11
|
APN |
2 |
121,901,440 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01304:Spg11
|
APN |
2 |
121,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01355:Spg11
|
APN |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
|
IGL01626:Spg11
|
APN |
2 |
121,891,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01739:Spg11
|
APN |
2 |
121,945,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Spg11
|
APN |
2 |
121,918,705 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02129:Spg11
|
APN |
2 |
121,926,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02178:Spg11
|
APN |
2 |
121,927,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02199:Spg11
|
APN |
2 |
121,890,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Spg11
|
APN |
2 |
121,938,638 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02605:Spg11
|
APN |
2 |
121,922,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02635:Spg11
|
APN |
2 |
121,943,549 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02743:Spg11
|
APN |
2 |
121,889,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02822:Spg11
|
APN |
2 |
121,905,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02992:Spg11
|
APN |
2 |
121,888,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Spg11
|
APN |
2 |
121,918,801 (GRCm39) |
missense |
probably damaging |
0.96 |
|
3-1:Spg11
|
UTSW |
2 |
121,917,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4354001:Spg11
|
UTSW |
2 |
121,918,666 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0131:Spg11
|
UTSW |
2 |
121,901,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0208:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0302:Spg11
|
UTSW |
2 |
121,922,668 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0347:Spg11
|
UTSW |
2 |
121,927,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0357:Spg11
|
UTSW |
2 |
121,896,713 (GRCm39) |
splice site |
probably benign |
|
|
R0372:Spg11
|
UTSW |
2 |
121,889,928 (GRCm39) |
frame shift |
probably null |
|
|
R0715:Spg11
|
UTSW |
2 |
121,915,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0927:Spg11
|
UTSW |
2 |
121,924,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1163:Spg11
|
UTSW |
2 |
121,901,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Spg11
|
UTSW |
2 |
121,922,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Spg11
|
UTSW |
2 |
121,927,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1569:Spg11
|
UTSW |
2 |
121,932,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Spg11
|
UTSW |
2 |
121,932,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Spg11
|
UTSW |
2 |
121,890,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Spg11
|
UTSW |
2 |
121,938,788 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2303:Spg11
|
UTSW |
2 |
121,899,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2510:Spg11
|
UTSW |
2 |
121,905,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2760:Spg11
|
UTSW |
2 |
121,927,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2918:Spg11
|
UTSW |
2 |
121,905,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3195:Spg11
|
UTSW |
2 |
121,913,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3423:Spg11
|
UTSW |
2 |
121,901,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4353:Spg11
|
UTSW |
2 |
121,943,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4407:Spg11
|
UTSW |
2 |
121,905,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4644:Spg11
|
UTSW |
2 |
121,891,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4663:Spg11
|
UTSW |
2 |
121,928,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4684:Spg11
|
UTSW |
2 |
121,895,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Spg11
|
UTSW |
2 |
121,895,963 (GRCm39) |
nonsense |
probably null |
|
|
R4829:Spg11
|
UTSW |
2 |
121,938,936 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5089:Spg11
|
UTSW |
2 |
121,945,198 (GRCm39) |
nonsense |
probably null |
|
|
R5362:Spg11
|
UTSW |
2 |
121,891,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5684:Spg11
|
UTSW |
2 |
121,923,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Spg11
|
UTSW |
2 |
121,928,680 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5923:Spg11
|
UTSW |
2 |
121,923,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6052:Spg11
|
UTSW |
2 |
121,927,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6111:Spg11
|
UTSW |
2 |
121,923,963 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6174:Spg11
|
UTSW |
2 |
121,917,286 (GRCm39) |
splice site |
probably null |
|
|
R6226:Spg11
|
UTSW |
2 |
121,918,743 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6336:Spg11
|
UTSW |
2 |
121,943,440 (GRCm39) |
splice site |
probably null |
|
|
R6480:Spg11
|
UTSW |
2 |
121,922,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6494:Spg11
|
UTSW |
2 |
121,943,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6582:Spg11
|
UTSW |
2 |
121,922,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6714:Spg11
|
UTSW |
2 |
121,926,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6791:Spg11
|
UTSW |
2 |
121,923,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6836:Spg11
|
UTSW |
2 |
121,890,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Spg11
|
UTSW |
2 |
121,900,385 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7179:Spg11
|
UTSW |
2 |
121,932,270 (GRCm39) |
splice site |
probably null |
|
|
R7229:Spg11
|
UTSW |
2 |
121,938,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7337:Spg11
|
UTSW |
2 |
121,915,474 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7338:Spg11
|
UTSW |
2 |
121,885,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Spg11
|
UTSW |
2 |
121,900,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7378:Spg11
|
UTSW |
2 |
121,888,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Spg11
|
UTSW |
2 |
121,924,026 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7505:Spg11
|
UTSW |
2 |
121,905,832 (GRCm39) |
nonsense |
probably null |
|
|
R7665:Spg11
|
UTSW |
2 |
121,896,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Spg11
|
UTSW |
2 |
121,899,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7779:Spg11
|
UTSW |
2 |
121,901,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Spg11
|
UTSW |
2 |
121,922,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7958:Spg11
|
UTSW |
2 |
121,923,426 (GRCm39) |
splice site |
probably null |
|
|
R8024:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8033:Spg11
|
UTSW |
2 |
121,917,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Spg11
|
UTSW |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
|
R8121:Spg11
|
UTSW |
2 |
121,900,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8252:Spg11
|
UTSW |
2 |
121,918,820 (GRCm39) |
splice site |
probably benign |
|
|
R8358:Spg11
|
UTSW |
2 |
121,910,739 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8362:Spg11
|
UTSW |
2 |
121,948,842 (GRCm39) |
missense |
unknown |
|
|
R8385:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8406:Spg11
|
UTSW |
2 |
121,923,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8480:Spg11
|
UTSW |
2 |
121,943,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Spg11
|
UTSW |
2 |
121,901,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8883:Spg11
|
UTSW |
2 |
121,943,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Spg11
|
UTSW |
2 |
121,922,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Spg11
|
UTSW |
2 |
121,900,413 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9059:Spg11
|
UTSW |
2 |
121,918,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9296:Spg11
|
UTSW |
2 |
121,945,175 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9333:Spg11
|
UTSW |
2 |
121,932,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Spg11
|
UTSW |
2 |
121,910,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Spg11
|
UTSW |
2 |
121,938,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Spg11
|
UTSW |
2 |
121,903,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCATGTGGCACGTGAAG -3'
(R):5'- CTTGTCCCATAAAGCCAGCTAG -3'
Sequencing Primer
(F):5'- AAGTCCTGTCTAGAGAGCTCTTATGC -3'
(R):5'- CTAGAAAGAGCTATCGGGATTACCTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation