Incidental Mutation 'IGL03341:Ttc7b'
ID |
417235 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc7b
|
Ensembl Gene |
ENSMUSG00000033530 |
Gene Name |
tetratricopeptide repeat domain 7B |
Synonyms |
Ttc7l1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
IGL03341
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
100267029-100487085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100291994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 193
(I193V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062957]
[ENSMUST00000223020]
[ENSMUST00000223110]
|
AlphaFold |
E9Q6P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062957
AA Change: I707V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000052107 Gene: ENSMUSG00000033530 AA Change: I707V
Domain | Start | End | E-Value | Type |
TPR
|
397 |
430 |
8.76e-1 |
SMART |
Blast:TPR
|
471 |
514 |
5e-9 |
BLAST |
TPR
|
515 |
548 |
2.77e1 |
SMART |
TPR
|
549 |
582 |
2.01e0 |
SMART |
TPR
|
696 |
729 |
9.7e0 |
SMART |
TPR
|
730 |
763 |
7.98e-4 |
SMART |
TPR
|
764 |
797 |
6.1e0 |
SMART |
TPR
|
798 |
831 |
2.74e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220480
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223020
AA Change: I724V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223110
AA Change: I193V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223255
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
C |
T |
2: 35,265,906 (GRCm39) |
V255I |
possibly damaging |
Het |
Acvrl1 |
T |
A |
15: 101,035,477 (GRCm39) |
N334K |
probably damaging |
Het |
Arhgef5 |
T |
A |
6: 43,257,585 (GRCm39) |
I1284N |
probably damaging |
Het |
Asns |
C |
A |
6: 7,682,002 (GRCm39) |
R236L |
probably damaging |
Het |
Barx2 |
T |
C |
9: 31,770,090 (GRCm39) |
E146G |
probably damaging |
Het |
Ccl7 |
A |
G |
11: 81,936,661 (GRCm39) |
S18G |
probably benign |
Het |
Cilp |
A |
T |
9: 65,185,284 (GRCm39) |
T460S |
probably benign |
Het |
Cpa5 |
A |
G |
6: 30,626,290 (GRCm39) |
Y217C |
possibly damaging |
Het |
Dgkh |
T |
A |
14: 78,832,931 (GRCm39) |
|
probably benign |
Het |
Dmc1 |
T |
C |
15: 79,446,746 (GRCm39) |
T276A |
probably benign |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
Gstm2 |
T |
C |
3: 107,891,521 (GRCm39) |
Y93C |
possibly damaging |
Het |
Hc |
A |
T |
2: 34,893,389 (GRCm39) |
I1274N |
probably damaging |
Het |
Htra1 |
A |
G |
7: 130,583,444 (GRCm39) |
I355V |
probably benign |
Het |
Ifi214 |
G |
T |
1: 173,354,082 (GRCm39) |
T196K |
possibly damaging |
Het |
Ms4a5 |
T |
C |
19: 11,256,742 (GRCm39) |
T52A |
probably benign |
Het |
Mtx3 |
T |
C |
13: 92,984,391 (GRCm39) |
F191L |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,654,424 (GRCm39) |
M192V |
probably benign |
Het |
Pdcl3 |
C |
A |
1: 39,034,976 (GRCm39) |
Q178K |
probably benign |
Het |
Rap1gap2 |
G |
A |
11: 74,326,540 (GRCm39) |
R176W |
probably damaging |
Het |
Ska2 |
A |
G |
11: 87,006,990 (GRCm39) |
T32A |
probably benign |
Het |
Slc6a18 |
G |
T |
13: 73,826,042 (GRCm39) |
Q3K |
probably benign |
Het |
Slc7a14 |
T |
C |
3: 31,292,919 (GRCm39) |
Y122C |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,070,308 (GRCm39) |
K2493* |
probably null |
Het |
Trpm6 |
T |
A |
19: 18,790,850 (GRCm39) |
N628K |
probably benign |
Het |
Ttc17 |
T |
A |
2: 94,205,566 (GRCm39) |
N260I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,542,583 (GRCm39) |
T25141S |
possibly damaging |
Het |
Zfhx4 |
A |
C |
3: 5,476,910 (GRCm39) |
Q3150P |
probably damaging |
Het |
|
Other mutations in Ttc7b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00740:Ttc7b
|
APN |
12 |
100,342,472 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01377:Ttc7b
|
APN |
12 |
100,321,371 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01617:Ttc7b
|
APN |
12 |
100,352,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02928:Ttc7b
|
APN |
12 |
100,369,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03183:Ttc7b
|
APN |
12 |
100,339,968 (GRCm39) |
splice site |
probably null |
|
R0302:Ttc7b
|
UTSW |
12 |
100,353,438 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0620:Ttc7b
|
UTSW |
12 |
100,466,332 (GRCm39) |
splice site |
probably null |
|
R0625:Ttc7b
|
UTSW |
12 |
100,321,305 (GRCm39) |
missense |
probably benign |
0.04 |
R1016:Ttc7b
|
UTSW |
12 |
100,369,617 (GRCm39) |
missense |
probably null |
1.00 |
R1131:Ttc7b
|
UTSW |
12 |
100,348,378 (GRCm39) |
critical splice donor site |
probably null |
|
R1241:Ttc7b
|
UTSW |
12 |
100,369,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1710:Ttc7b
|
UTSW |
12 |
100,369,667 (GRCm39) |
missense |
probably damaging |
0.98 |
R1803:Ttc7b
|
UTSW |
12 |
100,373,261 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1887:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
R1920:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
R1921:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
R1922:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
R2062:Ttc7b
|
UTSW |
12 |
100,291,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Ttc7b
|
UTSW |
12 |
100,321,260 (GRCm39) |
critical splice donor site |
probably null |
|
R2380:Ttc7b
|
UTSW |
12 |
100,321,260 (GRCm39) |
critical splice donor site |
probably null |
|
R4581:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R4582:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R4598:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R4599:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R4600:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R4601:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R4779:Ttc7b
|
UTSW |
12 |
100,369,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Ttc7b
|
UTSW |
12 |
100,268,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R5244:Ttc7b
|
UTSW |
12 |
100,314,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R5387:Ttc7b
|
UTSW |
12 |
100,413,222 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5739:Ttc7b
|
UTSW |
12 |
100,350,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R5997:Ttc7b
|
UTSW |
12 |
100,339,819 (GRCm39) |
missense |
probably damaging |
0.96 |
R6223:Ttc7b
|
UTSW |
12 |
100,353,368 (GRCm39) |
critical splice donor site |
probably null |
|
R6238:Ttc7b
|
UTSW |
12 |
100,461,681 (GRCm39) |
missense |
probably benign |
0.31 |
R6318:Ttc7b
|
UTSW |
12 |
100,291,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R6494:Ttc7b
|
UTSW |
12 |
100,461,666 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7153:Ttc7b
|
UTSW |
12 |
100,321,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8084:Ttc7b
|
UTSW |
12 |
100,350,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8132:Ttc7b
|
UTSW |
12 |
100,413,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R8364:Ttc7b
|
UTSW |
12 |
100,291,817 (GRCm39) |
missense |
probably benign |
0.40 |
R8536:Ttc7b
|
UTSW |
12 |
100,339,803 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8719:Ttc7b
|
UTSW |
12 |
100,267,812 (GRCm39) |
missense |
probably damaging |
0.99 |
R8932:Ttc7b
|
UTSW |
12 |
100,268,022 (GRCm39) |
missense |
probably benign |
0.00 |
R8992:Ttc7b
|
UTSW |
12 |
100,466,433 (GRCm39) |
missense |
probably benign |
|
R9674:Ttc7b
|
UTSW |
12 |
100,432,553 (GRCm39) |
missense |
probably benign |
0.24 |
R9731:Ttc7b
|
UTSW |
12 |
100,461,683 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Posted On |
2016-08-02 |