Incidental Mutation 'R4116:Tbc1d5'
ID |
314656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d5
|
Ensembl Gene |
ENSMUSG00000023923 |
Gene Name |
TBC1 domain family, member 5 |
Synonyms |
1600014N05Rik |
MMRRC Submission |
040859-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4116 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51227615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 210
(L210P)
|
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: L210P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024717 Gene: ENSMUSG00000023923 AA Change: L210P
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: ENSMUST00000122634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223979
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224528
AA Change: L210P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224977
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,634,817 (GRCm39) |
F395L |
possibly damaging |
Het |
Amigo1 |
C |
T |
3: 108,095,761 (GRCm39) |
T420I |
probably damaging |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cald1 |
C |
T |
6: 34,722,654 (GRCm39) |
R107C |
probably damaging |
Het |
Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Sema4f |
G |
A |
6: 82,894,887 (GRCm39) |
T436M |
probably benign |
Het |
Sf3a2 |
A |
G |
10: 80,637,175 (GRCm39) |
T37A |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCTGGGTAGAATCAATCGTCAG -3'
(R):5'- TGCATGCTCTGGTTGAATTAGAATC -3'
Sequencing Primer
(F):5'- CAAAGATCTAATGTTTCAAAGGCAC -3'
(R):5'- CCATCTTTGTGGTAGCGA -3'
|
Posted On |
2015-05-14 |