Incidental Mutation 'R9027:Tbc1d5'
ID |
686835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d5
|
Ensembl Gene |
ENSMUSG00000023923 |
Gene Name |
TBC1 domain family, member 5 |
Synonyms |
1600014N05Rik |
MMRRC Submission |
068856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9027 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 51063692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 629
(M629I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
AlphaFold |
Q80XQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024717
AA Change: M629I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024717 Gene: ENSMUSG00000023923 AA Change: M629I
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: M651I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
C |
A |
5: 121,640,788 (GRCm39) |
E86* |
probably null |
Het |
Ahnak |
T |
G |
19: 8,984,617 (GRCm39) |
I1967S |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,212,600 (GRCm39) |
V83A |
possibly damaging |
Het |
Arhgap20 |
A |
T |
9: 51,754,977 (GRCm39) |
R439S |
probably damaging |
Het |
Arl1 |
A |
G |
10: 88,569,458 (GRCm39) |
I20V |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,995,628 (GRCm39) |
D93G |
probably benign |
Het |
Btbd7 |
T |
G |
12: 102,804,838 (GRCm39) |
K67N |
probably damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,301 (GRCm39) |
N118S |
probably benign |
Het |
Ccz1 |
A |
C |
5: 143,946,120 (GRCm39) |
|
probably benign |
Het |
Cdk19 |
A |
G |
10: 40,355,728 (GRCm39) |
S479G |
unknown |
Het |
Chrd |
A |
G |
16: 20,555,737 (GRCm39) |
T503A |
probably damaging |
Het |
Clca4b |
G |
A |
3: 144,617,827 (GRCm39) |
R759* |
probably null |
Het |
Cpa5 |
G |
T |
6: 30,612,604 (GRCm39) |
M1I |
probably null |
Het |
Cr2 |
A |
T |
1: 194,834,029 (GRCm39) |
I920N |
probably benign |
Het |
Crmp1 |
C |
A |
5: 37,437,947 (GRCm39) |
Y430* |
probably null |
Het |
Dars1 |
A |
T |
1: 128,296,163 (GRCm39) |
V390D |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,853,555 (GRCm39) |
S85P |
probably damaging |
Het |
Ermardl1 |
A |
G |
17: 15,242,364 (GRCm39) |
E416G |
unknown |
Het |
Fancm |
C |
A |
12: 65,122,605 (GRCm39) |
D42E |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,423,122 (GRCm39) |
Y192F |
possibly damaging |
Het |
Gpr3 |
A |
T |
4: 132,938,209 (GRCm39) |
Y154* |
probably null |
Het |
Huwe1 |
G |
A |
X: 150,716,084 (GRCm39) |
R4331Q |
unknown |
Het |
Ints5 |
C |
A |
19: 8,873,322 (GRCm39) |
P427Q |
possibly damaging |
Het |
Jhy |
A |
T |
9: 40,828,823 (GRCm39) |
V361D |
probably benign |
Het |
Klhl33 |
G |
A |
14: 51,130,322 (GRCm39) |
Q131* |
probably null |
Het |
Lama2 |
A |
T |
10: 27,080,881 (GRCm39) |
C981S |
probably damaging |
Het |
Mks1 |
C |
A |
11: 87,748,041 (GRCm39) |
L225I |
probably damaging |
Het |
Ms4a20 |
A |
T |
19: 11,083,055 (GRCm39) |
Y122N |
probably damaging |
Het |
Nfasc |
T |
A |
1: 132,539,343 (GRCm39) |
S402C |
probably damaging |
Het |
Or2a57 |
T |
C |
6: 43,213,358 (GRCm39) |
I272T |
possibly damaging |
Het |
Or4k50-ps1 |
A |
T |
2: 111,522,517 (GRCm39) |
Y218F |
unknown |
Het |
Or51g2 |
T |
C |
7: 102,622,560 (GRCm39) |
D213G |
probably damaging |
Het |
Pbx4 |
T |
A |
8: 70,316,999 (GRCm39) |
D85E |
possibly damaging |
Het |
Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Psen2 |
C |
A |
1: 180,056,972 (GRCm39) |
E351* |
probably null |
Het |
Rragd |
G |
A |
4: 32,996,083 (GRCm39) |
V143I |
probably damaging |
Het |
Rsph14 |
A |
T |
10: 74,795,423 (GRCm39) |
M254K |
probably damaging |
Het |
Selenoi |
C |
T |
5: 30,437,607 (GRCm39) |
|
probably benign |
Het |
Six6 |
T |
C |
12: 72,986,935 (GRCm39) |
S36P |
|
Het |
Slc12a8 |
T |
C |
16: 33,445,215 (GRCm39) |
S370P |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,716,432 (GRCm39) |
Y357H |
probably benign |
Het |
Socs2 |
A |
T |
10: 95,248,948 (GRCm39) |
V55D |
probably damaging |
Het |
Socs6 |
T |
C |
18: 88,888,852 (GRCm39) |
E21G |
probably benign |
Het |
Spata31e4 |
C |
T |
13: 50,857,007 (GRCm39) |
Q882* |
probably null |
Het |
Speg |
A |
T |
1: 75,365,076 (GRCm39) |
T486S |
possibly damaging |
Het |
Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Stxbp5l |
T |
C |
16: 37,165,473 (GRCm39) |
K82E |
probably damaging |
Het |
Sugt1 |
A |
G |
14: 79,825,155 (GRCm39) |
|
probably benign |
Het |
Synm |
T |
C |
7: 67,384,440 (GRCm39) |
Y1074C |
probably damaging |
Het |
Sytl2 |
A |
G |
7: 90,028,748 (GRCm39) |
T476A |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,414,349 (GRCm39) |
S237P |
probably benign |
Het |
Tlr11 |
G |
A |
14: 50,598,749 (GRCm39) |
G245D |
probably damaging |
Het |
Tspan4 |
T |
C |
7: 141,069,577 (GRCm39) |
V59A |
probably benign |
Het |
Tulp4 |
T |
A |
17: 6,283,472 (GRCm39) |
V1167E |
possibly damaging |
Het |
Usp42 |
G |
A |
5: 143,708,906 (GRCm39) |
T204M |
probably damaging |
Het |
Vapb |
A |
G |
2: 173,617,948 (GRCm39) |
K147R |
possibly damaging |
Het |
Vmn1r228 |
T |
C |
17: 20,997,422 (GRCm39) |
D32G |
probably benign |
Het |
Vmn2r33 |
A |
G |
7: 7,554,168 (GRCm39) |
F795S |
probably damaging |
Het |
Vmn2r34 |
A |
T |
7: 7,675,527 (GRCm39) |
N620K |
probably damaging |
Het |
Vwf |
G |
T |
6: 125,643,626 (GRCm39) |
C2389F |
|
Het |
Wdr81 |
T |
C |
11: 75,332,908 (GRCm39) |
E652G |
|
Het |
Wdr81 |
A |
T |
11: 75,343,207 (GRCm39) |
S687T |
probably benign |
Het |
Zcrb1 |
A |
G |
15: 93,285,456 (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 |
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 |
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'- CCTGTCCTAGTCTCTGCAACAG -3'
(R):5'- AGCCCACGTACACCTTGAG -3'
Sequencing Primer
(F):5'- GTCCTAGTCTCTGCAACAGTACAG -3'
(R):5'- TCAAAGCCAGTGTGGTCTAC -3'
|
Posted On |
2021-11-19 |