Incidental Mutation 'R8434:Tbc1d5'
| ID |
660648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| MMRRC Submission |
067900-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 51089455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024717
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,021 (GRCm39) |
T737A |
probably damaging |
Het |
| 2310034C09Rik |
A |
G |
16: 88,556,260 (GRCm39) |
Y158C |
probably damaging |
Het |
| Abhd18 |
T |
A |
3: 40,885,331 (GRCm39) |
S239T |
possibly damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,368,552 (GRCm39) |
T56I |
probably benign |
Het |
| Arhgef10l |
T |
A |
4: 140,291,582 (GRCm39) |
Q454L |
possibly damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,179 (GRCm39) |
E572G |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,282,257 (GRCm39) |
H164R |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,631,917 (GRCm39) |
M196T |
probably benign |
Het |
| Cnbd1 |
T |
G |
4: 19,055,045 (GRCm39) |
K127T |
probably benign |
Het |
| Cog3 |
A |
T |
14: 75,979,836 (GRCm39) |
V165E |
probably damaging |
Het |
| Crim1 |
G |
A |
17: 78,654,686 (GRCm39) |
R654H |
probably benign |
Het |
| Ctnnb1 |
G |
A |
9: 120,786,628 (GRCm39) |
V617I |
possibly damaging |
Het |
| Dach1 |
T |
A |
14: 98,406,129 (GRCm39) |
Q206L |
probably damaging |
Het |
| Dhx30 |
C |
T |
9: 109,929,974 (GRCm39) |
V41I |
probably benign |
Het |
| Dnase2a |
T |
C |
8: 85,636,410 (GRCm39) |
L176P |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,360,739 (GRCm39) |
D262G |
probably damaging |
Het |
| Dsel |
T |
A |
1: 111,789,385 (GRCm39) |
E383D |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,576,253 (GRCm39) |
Y585F |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,190 (GRCm39) |
I304N |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,337 (GRCm39) |
D309G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,762,086 (GRCm39) |
V291A |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,070,063 (GRCm39) |
V398M |
possibly damaging |
Het |
| Grin3b |
C |
T |
10: 79,810,422 (GRCm39) |
R643C |
probably damaging |
Het |
| Hdac3 |
T |
A |
18: 38,074,475 (GRCm39) |
H339L |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,621 (GRCm39) |
Q326L |
unknown |
Het |
| Insr |
T |
C |
8: 3,215,514 (GRCm39) |
|
probably benign |
Het |
| Ivl |
T |
A |
3: 92,479,943 (GRCm39) |
T41S |
probably benign |
Het |
| Lama4 |
C |
T |
10: 38,902,703 (GRCm39) |
P226S |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,613,621 (GRCm39) |
|
probably null |
Het |
| Lrrc42 |
A |
T |
4: 107,104,721 (GRCm39) |
N81K |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,897,900 (GRCm39) |
H838Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,990,806 (GRCm39) |
M314V |
possibly damaging |
Het |
| Me3 |
A |
G |
7: 89,389,086 (GRCm39) |
E130G |
probably damaging |
Het |
| Mpnd |
A |
G |
17: 56,316,405 (GRCm39) |
D28G |
possibly damaging |
Het |
| Mtch2 |
G |
T |
2: 90,683,208 (GRCm39) |
E102* |
probably null |
Het |
| Myh13 |
A |
T |
11: 67,254,011 (GRCm39) |
|
probably null |
Het |
| Or10ag55-ps1 |
G |
A |
2: 87,114,978 (GRCm39) |
V115I |
probably benign |
Het |
| Or5ae2 |
C |
A |
7: 84,506,497 (GRCm39) |
H309N |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,074,192 (GRCm39) |
D891V |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,327,957 (GRCm39) |
|
probably null |
Het |
| Rag1 |
A |
G |
2: 101,473,009 (GRCm39) |
L711P |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,636 (GRCm39) |
Y4227* |
probably null |
Het |
| Sec23ip |
C |
T |
7: 128,352,151 (GRCm39) |
H176Y |
probably benign |
Het |
| Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
| Serpina10 |
C |
T |
12: 103,594,563 (GRCm39) |
G219R |
probably damaging |
Het |
| Sp1 |
C |
T |
15: 102,318,118 (GRCm39) |
L546F |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,073,057 (GRCm39) |
N1256S |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,964,765 (GRCm39) |
S33G |
probably benign |
Het |
| Tpsab1 |
A |
G |
17: 25,564,445 (GRCm39) |
L3P |
possibly damaging |
Het |
| Trgv3 |
A |
G |
13: 19,427,036 (GRCm39) |
T8A |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,159,050 (GRCm39) |
|
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,610 (GRCm39) |
S119P |
possibly damaging |
Het |
| Vmn2r31 |
A |
G |
7: 7,387,699 (GRCm39) |
L624P |
probably damaging |
Het |
| Vps33a |
A |
T |
5: 123,671,944 (GRCm39) |
W475R |
possibly damaging |
Het |
| Xpnpep3 |
G |
T |
15: 81,311,795 (GRCm39) |
R167L |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,463,918 (GRCm39) |
S1384T |
probably damaging |
Het |
| Zfp3 |
G |
A |
11: 70,663,384 (GRCm39) |
E448K |
probably benign |
Het |
| Zfp362 |
T |
A |
4: 128,679,769 (GRCm39) |
H299L |
probably damaging |
Het |
| Zfp664 |
C |
T |
5: 124,962,827 (GRCm39) |
L74F |
possibly damaging |
Het |
| Zfp808 |
A |
G |
13: 62,319,926 (GRCm39) |
Y385C |
probably damaging |
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 |
|
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 |
|
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'- CAGAGACTGAAAGCAAGCTGTC -3'
(R):5'- CTTTTAAAACATGCCTGGACTATGC -3'
Sequencing Primer
(F):5'- TGAAAGCAAGCTGTCCTTAGAC -3'
(R):5'- GCCTGGACTATGCAGGATACATTAC -3'
|
| Posted On |
2021-01-22 |
Incidental Mutation