Incidental Mutation 'IGL01617:Ttc7b'
ID |
92418 |
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: 0.332)
|
Stock # |
IGL01617
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
100267029-100487085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 100352215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 414
(A414D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062957]
[ENSMUST00000223020]
|
AlphaFold |
E9Q6P5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062957
AA Change: A414D
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000052107 Gene: ENSMUSG00000033530 AA Change: A414D
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: ENSMUST00000221975
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223020
AA Change: A414D
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223514
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,115,149 (GRCm39) |
I160F |
possibly damaging |
Het |
Cacna1d |
C |
T |
14: 29,824,328 (GRCm39) |
A1030T |
probably damaging |
Het |
Ceacam13 |
A |
T |
7: 17,745,308 (GRCm39) |
D126V |
possibly damaging |
Het |
Cep68 |
G |
T |
11: 20,189,510 (GRCm39) |
Q501K |
probably benign |
Het |
Cfhr1 |
A |
T |
1: 139,481,417 (GRCm39) |
C154* |
probably null |
Het |
Chd3 |
A |
G |
11: 69,249,060 (GRCm39) |
|
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,912,297 (GRCm39) |
M262V |
probably damaging |
Het |
Csrnp2 |
T |
C |
15: 100,382,524 (GRCm39) |
Y172C |
probably benign |
Het |
Dzip1 |
G |
T |
14: 119,118,477 (GRCm39) |
P752Q |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,854,376 (GRCm39) |
T1630I |
probably benign |
Het |
Gabrr1 |
G |
A |
4: 33,162,634 (GRCm39) |
S400N |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,547,783 (GRCm39) |
A2723T |
probably benign |
Het |
Htt |
A |
G |
5: 35,034,099 (GRCm39) |
H1895R |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,879,840 (GRCm39) |
|
probably benign |
Het |
Mitf |
A |
G |
6: 97,973,389 (GRCm39) |
I241V |
probably benign |
Het |
Mterf1b |
A |
T |
5: 4,246,503 (GRCm39) |
D48V |
probably benign |
Het |
Nmbr |
G |
T |
10: 14,646,173 (GRCm39) |
R349M |
probably benign |
Het |
Pik3r4 |
T |
C |
9: 105,532,164 (GRCm39) |
S579P |
probably benign |
Het |
Polr2i |
T |
C |
7: 29,931,817 (GRCm39) |
F16S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Rgs11 |
A |
G |
17: 26,427,224 (GRCm39) |
H385R |
probably damaging |
Het |
Rufy4 |
G |
A |
1: 74,168,513 (GRCm39) |
G99R |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,900,375 (GRCm39) |
F185S |
probably benign |
Het |
Spag17 |
G |
A |
3: 100,016,824 (GRCm39) |
V2200I |
possibly damaging |
Het |
Trappc14 |
A |
T |
5: 138,260,478 (GRCm39) |
L47Q |
probably damaging |
Het |
Ugt2b37 |
A |
T |
5: 87,399,738 (GRCm39) |
W257R |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,974,482 (GRCm39) |
I381M |
possibly 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 |
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 |
|
IGL03341:Ttc7b
|
APN |
12 |
100,291,994 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
2013-12-09 |