Incidental Mutation 'IGL01370:Tbc1d5'
| ID |
76097 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51273755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 119
(I119F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024717
AA Change: I119F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: I119F
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
78 |
384 |
5.56e-86 |
SMART |
|
low complexity region
|
475 |
492 |
N/A |
INTRINSIC |
|
SCOP:d1lsha3
|
511 |
546 |
1e-3 |
SMART |
|
low complexity region
|
556 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
802 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224528
AA Change: I119F
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225252
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
| Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
| Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
| Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
| Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
| Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
| Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
| Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
| Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
| Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
| Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
| Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
| Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
| Other mutations in Tbc1d5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Tbc1d5
|
APN |
17 |
51,120,826 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01625:Tbc1d5
|
APN |
17 |
51,224,601 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01935:Tbc1d5
|
APN |
17 |
51,270,793 (GRCm39) |
splice site |
probably benign |
|
|
IGL02229:Tbc1d5
|
APN |
17 |
51,159,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02811:Tbc1d5
|
APN |
17 |
51,107,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03192:Tbc1d5
|
APN |
17 |
51,291,709 (GRCm39) |
splice site |
probably benign |
|
|
FR4976:Tbc1d5
|
UTSW |
17 |
51,106,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4976:Tbc1d5
|
UTSW |
17 |
51,106,959 (GRCm39) |
missense |
probably benign |
|
|
IGL02796:Tbc1d5
|
UTSW |
17 |
51,273,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Tbc1d5
|
UTSW |
17 |
51,291,715 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Tbc1d5
|
UTSW |
17 |
51,273,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Tbc1d5
|
UTSW |
17 |
51,063,733 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0481:Tbc1d5
|
UTSW |
17 |
51,226,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1143:Tbc1d5
|
UTSW |
17 |
51,049,087 (GRCm39) |
nonsense |
probably null |
|
|
R1533:Tbc1d5
|
UTSW |
17 |
51,227,603 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1543:Tbc1d5
|
UTSW |
17 |
51,242,560 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2888:Tbc1d5
|
UTSW |
17 |
51,242,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Tbc1d5
|
UTSW |
17 |
51,275,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Tbc1d5
|
UTSW |
17 |
51,107,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Tbc1d5
|
UTSW |
17 |
51,270,772 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4116:Tbc1d5
|
UTSW |
17 |
51,227,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Tbc1d5
|
UTSW |
17 |
51,089,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4456:Tbc1d5
|
UTSW |
17 |
51,089,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Tbc1d5
|
UTSW |
17 |
51,043,251 (GRCm39) |
missense |
probably benign |
|
|
R4711:Tbc1d5
|
UTSW |
17 |
51,242,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4754:Tbc1d5
|
UTSW |
17 |
51,107,193 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5303:Tbc1d5
|
UTSW |
17 |
51,043,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Tbc1d5
|
UTSW |
17 |
51,291,660 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5443:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5444:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5611:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5658:Tbc1d5
|
UTSW |
17 |
51,120,869 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5701:Tbc1d5
|
UTSW |
17 |
51,106,983 (GRCm39) |
small deletion |
probably benign |
|
|
R5921:Tbc1d5
|
UTSW |
17 |
51,270,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Tbc1d5
|
UTSW |
17 |
51,089,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6628:Tbc1d5
|
UTSW |
17 |
51,043,236 (GRCm39) |
missense |
probably benign |
|
|
R6705:Tbc1d5
|
UTSW |
17 |
51,332,203 (GRCm39) |
start gained |
probably benign |
|
|
R6990:Tbc1d5
|
UTSW |
17 |
51,275,260 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7184:Tbc1d5
|
UTSW |
17 |
51,107,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7443:Tbc1d5
|
UTSW |
17 |
51,273,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Tbc1d5
|
UTSW |
17 |
51,224,573 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7696:Tbc1d5
|
UTSW |
17 |
51,181,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Tbc1d5
|
UTSW |
17 |
51,181,711 (GRCm39) |
nonsense |
probably null |
|
|
R7827:Tbc1d5
|
UTSW |
17 |
51,089,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7841:Tbc1d5
|
UTSW |
17 |
51,106,950 (GRCm39) |
small deletion |
probably benign |
|
|
R7861:Tbc1d5
|
UTSW |
17 |
51,063,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7931:Tbc1d5
|
UTSW |
17 |
51,106,892 (GRCm39) |
splice site |
probably benign |
|
|
R8108:Tbc1d5
|
UTSW |
17 |
51,049,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8434:Tbc1d5
|
UTSW |
17 |
51,089,455 (GRCm39) |
splice site |
probably benign |
|
|
R8683:Tbc1d5
|
UTSW |
17 |
51,291,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8792:Tbc1d5
|
UTSW |
17 |
51,106,962 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,969 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,963 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,962 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,978 (GRCm39) |
small insertion |
probably benign |
|
|
R8848:Tbc1d5
|
UTSW |
17 |
51,226,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Tbc1d5
|
UTSW |
17 |
51,063,692 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9176:Tbc1d5
|
UTSW |
17 |
51,089,363 (GRCm39) |
missense |
probably benign |
|
|
R9751:Tbc1d5
|
UTSW |
17 |
51,181,680 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1088:Tbc1d5
|
UTSW |
17 |
51,270,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d5
|
UTSW |
17 |
51,273,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation