Incidental Mutation 'R5444:Tbc1d5'
ID |
427366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d5
|
Ensembl Gene |
ENSMUSG00000023923 |
Gene Name |
TBC1 domain family, member 5 |
Synonyms |
1600014N05Rik |
MMRRC Submission |
043009-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5444 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51042995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 831
(I831T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
AlphaFold |
Q80XQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024717
AA Change: I809T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000024717 Gene: ENSMUSG00000023923 AA Change: I809T
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 damaging
Transcript: ENSMUST00000224528
AA Change: I831T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224977
|
Meta Mutation Damage Score |
0.2051 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
A |
G |
5: 26,684,735 (GRCm39) |
|
noncoding transcript |
Het |
Adam11 |
A |
G |
11: 102,663,674 (GRCm39) |
Q284R |
probably damaging |
Het |
Adamts17 |
T |
A |
7: 66,691,647 (GRCm39) |
H610Q |
probably benign |
Het |
Alg6 |
A |
G |
4: 99,629,816 (GRCm39) |
Y131C |
probably benign |
Het |
Apol9b |
T |
C |
15: 77,619,963 (GRCm39) |
I253T |
probably damaging |
Het |
Asb4 |
T |
A |
6: 5,431,040 (GRCm39) |
I425N |
probably damaging |
Het |
Atic |
T |
C |
1: 71,615,876 (GRCm39) |
L474P |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,669,985 (GRCm39) |
T318I |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,666,199 (GRCm39) |
K22E |
possibly damaging |
Het |
Cdk17 |
T |
G |
10: 93,053,823 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
A |
7: 83,631,499 (GRCm39) |
T438S |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,122,833 (GRCm39) |
E967G |
probably damaging |
Het |
Cyp2d26 |
G |
T |
15: 82,676,739 (GRCm39) |
D202E |
probably benign |
Het |
Dhdds |
G |
A |
4: 133,698,447 (GRCm39) |
R295* |
probably null |
Het |
Eef2kmt |
G |
A |
16: 5,066,959 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
G |
A |
11: 121,312,430 (GRCm39) |
|
probably null |
Het |
Gjc3 |
G |
A |
5: 137,955,809 (GRCm39) |
L159F |
probably damaging |
Het |
Gm28434 |
T |
C |
5: 88,127,147 (GRCm39) |
|
probably benign |
Het |
Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
Irf7 |
C |
T |
7: 140,844,732 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,201,573 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
T |
1: 15,781,716 (GRCm39) |
I863F |
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,348,908 (GRCm39) |
F647L |
possibly damaging |
Het |
Mccc1 |
T |
A |
3: 36,030,891 (GRCm39) |
M392L |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,938,149 (GRCm39) |
|
probably null |
Het |
Ncstn |
A |
C |
1: 171,900,406 (GRCm39) |
V223G |
possibly damaging |
Het |
Neurl3 |
G |
T |
1: 36,308,571 (GRCm39) |
F80L |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,334,785 (GRCm39) |
M869T |
possibly damaging |
Het |
Nfatc2 |
A |
G |
2: 168,376,810 (GRCm39) |
|
probably benign |
Het |
Nnat |
T |
C |
2: 157,403,137 (GRCm39) |
F26S |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,202,820 (GRCm39) |
Y109C |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,166,124 (GRCm39) |
D194E |
probably damaging |
Het |
Or10ak11 |
T |
A |
4: 118,687,308 (GRCm39) |
I109L |
probably benign |
Het |
Or3a4 |
T |
C |
11: 73,944,803 (GRCm39) |
S261G |
probably benign |
Het |
Or52k2 |
C |
T |
7: 102,254,076 (GRCm39) |
R172* |
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,322 (GRCm39) |
Q236L |
probably benign |
Het |
Or9g3 |
A |
T |
2: 85,590,263 (GRCm39) |
F152L |
probably benign |
Het |
Ostf1 |
A |
G |
19: 18,558,677 (GRCm39) |
L202S |
probably benign |
Het |
Pdzrn4 |
T |
A |
15: 92,668,806 (GRCm39) |
M747K |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,521 (GRCm39) |
D1019G |
probably benign |
Het |
Pnlip |
A |
G |
19: 58,661,595 (GRCm39) |
I95V |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,805,122 (GRCm39) |
T197S |
probably benign |
Het |
Rasgrp3 |
A |
T |
17: 75,810,370 (GRCm39) |
I357F |
probably damaging |
Het |
Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
Relch |
C |
T |
1: 105,654,109 (GRCm39) |
T826I |
possibly damaging |
Het |
Rgs22 |
T |
C |
15: 36,015,773 (GRCm39) |
D1037G |
possibly damaging |
Het |
Rnf215 |
A |
G |
11: 4,085,843 (GRCm39) |
I107M |
probably benign |
Het |
Rybp |
A |
T |
6: 100,264,231 (GRCm39) |
M3K |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,379,590 (GRCm39) |
S1081G |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,113 (GRCm39) |
|
noncoding transcript |
Het |
Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
Sult2a1 |
A |
T |
7: 13,569,944 (GRCm39) |
I96K |
possibly damaging |
Het |
Thbs3 |
T |
C |
3: 89,130,692 (GRCm39) |
|
probably benign |
Het |
Tmub2 |
T |
C |
11: 102,179,066 (GRCm39) |
L255S |
possibly damaging |
Het |
Trank1 |
T |
A |
9: 111,222,026 (GRCm39) |
L2921Q |
probably benign |
Het |
Trappc14 |
A |
T |
5: 138,259,260 (GRCm39) |
|
probably null |
Het |
Tuba8 |
A |
T |
6: 121,203,060 (GRCm39) |
|
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,451 (GRCm39) |
I469V |
probably benign |
Het |
Zfp1007 |
A |
T |
5: 109,823,502 (GRCm39) |
Y649* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTCTGGAAACCTCTATCTGC -3'
(R):5'- TCTGGTTTCCAAAGAAGATGAGGG -3'
Sequencing Primer
(F):5'- GGAAACCTCTATCTGCATTTTGG -3'
(R):5'- CAGAAGCACATCTGGGAA -3'
|
Posted On |
2016-09-01 |