Incidental Mutation 'FR4589:Tcof1'
| ID |
511428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcof1
|
| Ensembl Gene |
ENSMUSG00000024613 |
| Gene Name |
treacle ribosome biogenesis factor 1 |
| Synonyms |
treacle |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
FR4589 ()
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
60946827-60982043 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
GGGTA to G
at 60961722 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163446]
[ENSMUST00000175934]
[ENSMUST00000176630]
[ENSMUST00000177172]
|
| AlphaFold |
O08784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163446
|
| SMART Domains |
Protein: ENSMUSP00000130454
Gene: ENSMUSG00000024613
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
5.09e-4 |
SMART |
|
Pfam:Treacle
|
108 |
322 |
2.2e-8 |
PFAM |
|
Pfam:Treacle
|
321 |
793 |
4.6e-204 |
PFAM |
|
low complexity region
|
819 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
967 |
977 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175934
|
| SMART Domains |
Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
5.09e-4 |
SMART |
|
low complexity region
|
75 |
109 |
N/A |
INTRINSIC |
|
Pfam:Treacle
|
153 |
329 |
1.6e-12 |
PFAM |
|
Pfam:Treacle
|
321 |
792 |
6.1e-175 |
PFAM |
|
Pfam:Treacle
|
782 |
936 |
3.2e-16 |
PFAM |
|
low complexity region
|
969 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1172 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1285 |
N/A |
INTRINSIC |
|
coiled coil region
|
1306 |
1335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176088
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176630
|
| SMART Domains |
Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
5.09e-4 |
SMART |
|
Pfam:Treacle
|
108 |
323 |
2.5e-8 |
PFAM |
|
Pfam:Treacle
|
321 |
793 |
5.9e-204 |
PFAM |
|
low complexity region
|
819 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
891 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1249 |
N/A |
INTRINSIC |
|
coiled coil region
|
1270 |
1299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177172
|
| SMART Domains |
Protein: ENSMUSP00000134755
Gene: ENSMUSG00000024613
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
5.09e-4 |
SMART |
|
low complexity region
|
75 |
109 |
N/A |
INTRINSIC |
|
Pfam:Treacle
|
150 |
322 |
1.3e-10 |
PFAM |
|
Pfam:Treacle
|
321 |
506 |
1.5e-78 |
PFAM |
|
Pfam:Treacle
|
498 |
745 |
2e-105 |
PFAM |
|
low complexity region
|
771 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
898 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
990 |
N/A |
INTRINSIC |
|
| 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 nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Heterozygotes for a targeted null mutation die perinatally with severe craniofacial malformations including agenesis of the nasal passages, abnormal development of the maxilla, exencephaly, and anophthalmia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 126 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 |
| Spag17 |
GGA |
GGATGA |
3: 99,963,574 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
AGG |
AGGGGG |
3: 99,963,561 (GRCm39) |
|
probably benign |
Het |
| 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 |
| 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 Tcof1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Tcof1
|
APN |
18 |
60,947,640 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01339:Tcof1
|
APN |
18 |
60,951,167 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02072:Tcof1
|
APN |
18 |
60,964,637 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02160:Tcof1
|
APN |
18 |
60,981,815 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02513:Tcof1
|
APN |
18 |
60,964,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02823:Tcof1
|
APN |
18 |
60,949,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03161:Tcof1
|
APN |
18 |
60,966,560 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03291:Tcof1
|
APN |
18 |
60,962,133 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
FR4304:Tcof1
|
UTSW |
18 |
60,968,814 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Tcof1
|
UTSW |
18 |
60,961,722 (GRCm39) |
critical splice donor site |
probably benign |
|
|
PIT4802001:Tcof1
|
UTSW |
18 |
60,965,010 (GRCm39) |
missense |
unknown |
|
|
R0569:Tcof1
|
UTSW |
18 |
60,962,107 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0602:Tcof1
|
UTSW |
18 |
60,966,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Tcof1
|
UTSW |
18 |
60,978,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0782:Tcof1
|
UTSW |
18 |
60,949,352 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0833:Tcof1
|
UTSW |
18 |
60,978,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Tcof1
|
UTSW |
18 |
60,978,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0885:Tcof1
|
UTSW |
18 |
60,968,922 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1465:Tcof1
|
UTSW |
18 |
60,952,026 (GRCm39) |
splice site |
probably benign |
|
|
R1528:Tcof1
|
UTSW |
18 |
60,948,071 (GRCm39) |
nonsense |
probably null |
|
|
R1643:Tcof1
|
UTSW |
18 |
60,949,300 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1919:Tcof1
|
UTSW |
18 |
60,949,156 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1920:Tcof1
|
UTSW |
18 |
60,971,927 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1921:Tcof1
|
UTSW |
18 |
60,971,927 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2023:Tcof1
|
UTSW |
18 |
60,966,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Tcof1
|
UTSW |
18 |
60,968,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2114:Tcof1
|
UTSW |
18 |
60,965,857 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2115:Tcof1
|
UTSW |
18 |
60,965,857 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2116:Tcof1
|
UTSW |
18 |
60,965,857 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2117:Tcof1
|
UTSW |
18 |
60,965,857 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2156:Tcof1
|
UTSW |
18 |
60,964,901 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2221:Tcof1
|
UTSW |
18 |
60,970,973 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2229:Tcof1
|
UTSW |
18 |
60,965,249 (GRCm39) |
intron |
probably benign |
|
|
R2913:Tcof1
|
UTSW |
18 |
60,949,156 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2914:Tcof1
|
UTSW |
18 |
60,949,156 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3944:Tcof1
|
UTSW |
18 |
60,955,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3979:Tcof1
|
UTSW |
18 |
60,964,605 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4049:Tcof1
|
UTSW |
18 |
60,965,975 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4125:Tcof1
|
UTSW |
18 |
60,952,673 (GRCm39) |
missense |
unknown |
|
|
R5047:Tcof1
|
UTSW |
18 |
60,964,986 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5433:Tcof1
|
UTSW |
18 |
60,951,105 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5546:Tcof1
|
UTSW |
18 |
60,964,628 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5832:Tcof1
|
UTSW |
18 |
60,952,611 (GRCm39) |
missense |
unknown |
|
|
R5965:Tcof1
|
UTSW |
18 |
60,966,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6301:Tcof1
|
UTSW |
18 |
60,961,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6480:Tcof1
|
UTSW |
18 |
60,947,852 (GRCm39) |
splice site |
probably null |
|
|
R6910:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6911:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7105:Tcof1
|
UTSW |
18 |
60,976,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Tcof1
|
UTSW |
18 |
60,961,520 (GRCm39) |
missense |
unknown |
|
|
R7356:Tcof1
|
UTSW |
18 |
60,951,166 (GRCm39) |
missense |
unknown |
|
|
R7467:Tcof1
|
UTSW |
18 |
60,964,977 (GRCm39) |
missense |
unknown |
|
|
R7536:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7804:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7818:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7863:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8006:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8007:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8008:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8063:Tcof1
|
UTSW |
18 |
60,971,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Tcof1
|
UTSW |
18 |
60,976,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8200:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8203:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8204:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8207:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8217:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8300:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8517:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8518:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8553:Tcof1
|
UTSW |
18 |
60,964,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8729:Tcof1
|
UTSW |
18 |
60,962,145 (GRCm39) |
missense |
unknown |
|
|
R8732:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8749:Tcof1
|
UTSW |
18 |
60,962,123 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9800:Tcof1
|
UTSW |
18 |
60,949,558 (GRCm39) |
missense |
unknown |
|
|
RF001:Tcof1
|
UTSW |
18 |
60,968,811 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Tcof1
|
UTSW |
18 |
60,966,640 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Tcof1
|
UTSW |
18 |
60,968,815 (GRCm39) |
unclassified |
probably benign |
|
|
RF010:Tcof1
|
UTSW |
18 |
60,968,816 (GRCm39) |
unclassified |
probably benign |
|
|
RF011:Tcof1
|
UTSW |
18 |
60,968,811 (GRCm39) |
unclassified |
probably benign |
|
|
RF013:Tcof1
|
UTSW |
18 |
60,968,815 (GRCm39) |
unclassified |
probably benign |
|
|
RF015:Tcof1
|
UTSW |
18 |
60,966,656 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Tcof1
|
UTSW |
18 |
60,966,647 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Tcof1
|
UTSW |
18 |
60,968,807 (GRCm39) |
unclassified |
probably benign |
|
|
RF024:Tcof1
|
UTSW |
18 |
60,968,810 (GRCm39) |
unclassified |
probably benign |
|
|
RF027:Tcof1
|
UTSW |
18 |
60,968,808 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Tcof1
|
UTSW |
18 |
60,968,807 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Tcof1
|
UTSW |
18 |
60,968,817 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Tcof1
|
UTSW |
18 |
60,968,795 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Tcof1
|
UTSW |
18 |
60,966,646 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Tcof1
|
UTSW |
18 |
60,966,640 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Tcof1
|
UTSW |
18 |
60,968,817 (GRCm39) |
unclassified |
probably benign |
|
|
RF031:Tcof1
|
UTSW |
18 |
60,966,637 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Tcof1
|
UTSW |
18 |
60,966,625 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Tcof1
|
UTSW |
18 |
60,968,808 (GRCm39) |
unclassified |
probably benign |
|
|
RF036:Tcof1
|
UTSW |
18 |
60,961,480 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Tcof1
|
UTSW |
18 |
60,966,638 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Tcof1
|
UTSW |
18 |
60,966,655 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Tcof1
|
UTSW |
18 |
60,961,480 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Tcof1
|
UTSW |
18 |
60,966,648 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Tcof1
|
UTSW |
18 |
60,966,644 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Tcof1
|
UTSW |
18 |
60,966,644 (GRCm39) |
small insertion |
probably benign |
|
|
RF050:Tcof1
|
UTSW |
18 |
60,966,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF051:Tcof1
|
UTSW |
18 |
60,966,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF053:Tcof1
|
UTSW |
18 |
60,968,819 (GRCm39) |
unclassified |
probably benign |
|
|
RF056:Tcof1
|
UTSW |
18 |
60,966,647 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Tcof1
|
UTSW |
18 |
60,966,638 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Tcof1
|
UTSW |
18 |
60,966,637 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Tcof1
|
UTSW |
18 |
60,966,636 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Tcof1
|
UTSW |
18 |
60,966,643 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Tcof1
|
UTSW |
18 |
60,968,816 (GRCm39) |
unclassified |
probably benign |
|
|
RF060:Tcof1
|
UTSW |
18 |
60,968,819 (GRCm39) |
unclassified |
probably benign |
|
|
RF063:Tcof1
|
UTSW |
18 |
60,966,645 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Tcof1
|
UTSW |
18 |
60,966,646 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Tcof1
|
UTSW |
18 |
60,966,643 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTGTCTGAGTCCTCTG -3'
(R):5'- GGGAAAACCACCTGTTCCGAAC -3'
Sequencing Primer
(F):5'- TGGGTAGCTGAAGATCCCGTC -3'
(R):5'- TGTTCCGAACAGCACCGTC -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation