Incidental Mutation 'R7184:Tbc1d5'
| ID |
559203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| MMRRC Submission |
045236-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51107110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 482
(V482A)
|
| 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: V482A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: V482A
| 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 |
probably benign
Transcript: ENSMUST00000224528
AA Change: V482A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,094,219 (GRCm39) |
S500P |
possibly damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,184,965 (GRCm39) |
N292K |
probably benign |
Het |
| Art2b |
A |
T |
7: 101,229,658 (GRCm39) |
S80R |
probably benign |
Het |
| Atp6v1b2 |
G |
T |
8: 69,555,219 (GRCm39) |
A194S |
possibly damaging |
Het |
| Bsnd |
T |
C |
4: 106,349,109 (GRCm39) |
M44V |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,583,428 (GRCm39) |
V383E |
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,284,459 (GRCm39) |
T296A |
possibly damaging |
Het |
| Cdk15 |
G |
T |
1: 59,304,814 (GRCm39) |
E138D |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,375,191 (GRCm39) |
I406V |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,822 (GRCm39) |
V622A |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,642,663 (GRCm39) |
V232A |
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,235,860 (GRCm39) |
D130V |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,532,094 (GRCm39) |
R2294* |
probably null |
Het |
| Eddm3b |
A |
G |
14: 51,354,387 (GRCm39) |
Y125C |
probably damaging |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Enah |
A |
T |
1: 181,749,957 (GRCm39) |
V294E |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,531,137 (GRCm39) |
E545G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,458,994 (GRCm39) |
E22G |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,613,788 (GRCm39) |
P758S |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,835 (GRCm39) |
V80A |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,533 (GRCm39) |
Y39H |
unknown |
Het |
| Fsd1l |
C |
A |
4: 53,694,054 (GRCm39) |
R344S |
probably damaging |
Het |
| Fxyd1 |
G |
T |
7: 30,751,401 (GRCm39) |
R90S |
unknown |
Het |
| Galnt4 |
T |
A |
10: 98,944,466 (GRCm39) |
Y64N |
probably damaging |
Het |
| Gatb |
C |
T |
3: 85,544,258 (GRCm39) |
Q409* |
probably null |
Het |
| Glipr2 |
A |
C |
4: 43,968,667 (GRCm39) |
D73A |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr88 |
C |
T |
3: 116,045,643 (GRCm39) |
V223I |
possibly damaging |
Het |
| Gtf2h3 |
A |
G |
5: 124,722,067 (GRCm39) |
N55S |
probably benign |
Het |
| Htr4 |
T |
A |
18: 62,570,498 (GRCm39) |
C184* |
probably null |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,475 (GRCm39) |
R71S |
probably benign |
Het |
| Itpr2 |
G |
C |
6: 146,212,585 (GRCm39) |
I1510M |
possibly damaging |
Het |
| Keap1 |
T |
C |
9: 21,145,134 (GRCm39) |
Q292R |
probably benign |
Het |
| Mab21l4 |
T |
C |
1: 93,082,237 (GRCm39) |
N294S |
probably benign |
Het |
| Malt1 |
A |
C |
18: 65,580,764 (GRCm39) |
E219D |
probably benign |
Het |
| Manba |
T |
C |
3: 135,228,915 (GRCm39) |
V279A |
possibly damaging |
Het |
| Map4k5 |
T |
A |
12: 69,921,095 (GRCm39) |
H41L |
probably benign |
Het |
| Mcm2 |
T |
G |
6: 88,868,776 (GRCm39) |
Y327S |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,215,484 (GRCm39) |
I503T |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,119,279 (GRCm39) |
I99M |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,582 (GRCm39) |
H845R |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,599,061 (GRCm39) |
C2254Y |
probably damaging |
Het |
| Pmm1 |
T |
C |
15: 81,840,415 (GRCm39) |
N110S |
probably damaging |
Het |
| Poc1b |
G |
T |
10: 98,970,199 (GRCm39) |
C68F |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,965,842 (GRCm39) |
Y828C |
possibly damaging |
Het |
| Prl3d1 |
A |
G |
13: 27,282,619 (GRCm39) |
H119R |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,194 (GRCm39) |
E196G |
possibly damaging |
Het |
| Sf3a3 |
A |
G |
4: 124,608,772 (GRCm39) |
K29E |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,092,311 (GRCm39) |
I475K |
probably damaging |
Het |
| Slc26a5 |
G |
T |
5: 22,042,244 (GRCm39) |
Y237* |
probably null |
Het |
| Slc7a14 |
C |
T |
3: 31,281,212 (GRCm39) |
G366D |
probably damaging |
Het |
| Tdrd5 |
G |
T |
1: 156,087,505 (GRCm39) |
Q883K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,179,391 (GRCm39) |
Y1258C |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,028,131 (GRCm39) |
D739G |
unknown |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,820 (GRCm39) |
F78L |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,915 (GRCm39) |
K216* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,281 (GRCm39) |
Y408N |
probably damaging |
Het |
| Wscd1 |
T |
A |
11: 71,679,543 (GRCm39) |
V472D |
probably damaging |
Het |
| Zdbf2 |
G |
T |
1: 63,345,664 (GRCm39) |
V1348F |
possibly damaging |
Het |
| Zfp442 |
G |
T |
2: 150,250,056 (GRCm39) |
H615Q |
possibly damaging |
Het |
| Zfp457 |
C |
A |
13: 67,442,065 (GRCm39) |
C170F |
possibly damaging |
Het |
| Zscan10 |
A |
G |
17: 23,826,003 (GRCm39) |
|
probably null |
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 |
|
IGL01370:Tbc1d5
|
APN |
17 |
51,273,755 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTGTTCAACTGTACCGG -3'
(R):5'- TGTGAAATGCATTATCCTCCAAGG -3'
Sequencing Primer
(F):5'- AACTGTACCGGCATGCTTTCAG -3'
(R):5'- CCAAGGTAAATAGTGTTTTCCCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation