Incidental Mutation 'R4779:Tbc1d1'
ID |
368135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d1
|
Ensembl Gene |
ENSMUSG00000029174 |
Gene Name |
TBC1 domain family, member 1 |
Synonyms |
1110062G02Rik, Nob1, Nobq1 |
MMRRC Submission |
045240-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4779 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 64435389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
AlphaFold |
Q60949 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043893
|
SMART Domains |
Protein: ENSMUSP00000044577 Gene: ENSMUSG00000029174
Domain | Start | End | E-Value | Type |
PTB
|
16 |
164 |
3.29e-9 |
SMART |
PTB
|
168 |
378 |
5.93e-34 |
SMART |
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
Blast:TBC
|
541 |
635 |
2e-27 |
BLAST |
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
Pfam:DUF3350
|
777 |
832 |
2.5e-25 |
PFAM |
TBC
|
884 |
1104 |
3.84e-89 |
SMART |
Blast:TBC
|
1129 |
1186 |
5e-12 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000101195
|
SMART Domains |
Protein: ENSMUSP00000098756 Gene: ENSMUSG00000029174
Domain | Start | End | E-Value | Type |
PTB
|
16 |
164 |
3.29e-9 |
SMART |
PTB
|
168 |
378 |
5.93e-34 |
SMART |
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
Pfam:DUF3350
|
684 |
739 |
4e-29 |
PFAM |
TBC
|
791 |
1011 |
3.84e-89 |
SMART |
Blast:TBC
|
1036 |
1093 |
4e-12 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119756
|
SMART Domains |
Protein: ENSMUSP00000113643 Gene: ENSMUSG00000029174
Domain | Start | End | E-Value | Type |
PTB
|
39 |
249 |
5.93e-34 |
SMART |
low complexity region
|
390 |
411 |
N/A |
INTRINSIC |
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
Pfam:DUF3350
|
555 |
610 |
2.9e-29 |
PFAM |
TBC
|
662 |
882 |
3.84e-89 |
SMART |
Blast:TBC
|
907 |
964 |
4e-12 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121370
|
SMART Domains |
Protein: ENSMUSP00000112493 Gene: ENSMUSG00000029174
Domain | Start | End | E-Value | Type |
PTB
|
16 |
164 |
3.29e-9 |
SMART |
PTB
|
168 |
378 |
5.93e-34 |
SMART |
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
Pfam:DUF3350
|
684 |
739 |
4e-29 |
PFAM |
TBC
|
791 |
1011 |
3.84e-89 |
SMART |
Blast:TBC
|
1036 |
1093 |
4e-12 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147348
|
SMART Domains |
Protein: ENSMUSP00000119710 Gene: ENSMUSG00000029174
Domain | Start | End | E-Value | Type |
PTB
|
16 |
164 |
3.29e-9 |
SMART |
PTB
|
168 |
378 |
5.93e-34 |
SMART |
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
Blast:TBC
|
541 |
635 |
1e-27 |
BLAST |
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
Pfam:DUF3350
|
777 |
832 |
3.3e-29 |
PFAM |
TBC
|
884 |
1086 |
2.13e-32 |
SMART |
|
Meta Mutation Damage Score |
0.9494 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
98% (95/97) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
A |
16: 4,667,613 (GRCm39) |
S335T |
unknown |
Het |
4933421I07Rik |
T |
A |
7: 42,097,455 (GRCm39) |
H13L |
possibly damaging |
Het |
6030468B19Rik |
A |
G |
11: 117,696,834 (GRCm39) |
T185A |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,228,635 (GRCm39) |
V294E |
probably benign |
Het |
Abhd16b |
A |
G |
2: 181,135,253 (GRCm39) |
T52A |
possibly damaging |
Het |
Actl7a |
A |
T |
4: 56,743,632 (GRCm39) |
N53I |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,814,445 (GRCm39) |
E354G |
probably benign |
Het |
Arap1 |
T |
C |
7: 101,053,574 (GRCm39) |
F1301S |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,223,958 (GRCm39) |
W1447R |
probably damaging |
Het |
Atoh7 |
ATGGCGCT |
AT |
10: 62,936,187 (GRCm39) |
|
probably benign |
Het |
Ccl24 |
T |
A |
5: 135,601,811 (GRCm39) |
T6S |
possibly damaging |
Het |
Cep152 |
G |
T |
2: 125,410,812 (GRCm39) |
P1292Q |
possibly damaging |
Het |
Cfap46 |
T |
C |
7: 139,239,731 (GRCm39) |
|
probably benign |
Het |
Chd6 |
A |
T |
2: 160,791,477 (GRCm39) |
S2627T |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,468,963 (GRCm39) |
S552T |
probably damaging |
Het |
Ciita |
C |
A |
16: 10,329,230 (GRCm39) |
L502M |
probably damaging |
Het |
Clic1 |
T |
C |
17: 35,271,463 (GRCm39) |
F31S |
probably damaging |
Het |
Cntnap1 |
T |
A |
11: 101,068,898 (GRCm39) |
I147N |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,248,322 (GRCm39) |
S1624P |
probably benign |
Het |
Crispld1 |
T |
A |
1: 17,819,831 (GRCm39) |
D276E |
probably benign |
Het |
Cspg4 |
A |
T |
9: 56,793,092 (GRCm39) |
N276Y |
probably damaging |
Het |
Cspg4b |
A |
T |
13: 113,504,870 (GRCm39) |
N2000Y |
possibly damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,410,035 (GRCm39) |
M55V |
possibly damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,553,969 (GRCm39) |
I301T |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,034,580 (GRCm39) |
V1443A |
probably benign |
Het |
Ephb4 |
T |
C |
5: 137,363,964 (GRCm39) |
V612A |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,794,362 (GRCm39) |
C1189S |
probably damaging |
Het |
Fgfr2 |
T |
G |
7: 129,786,923 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,437,461 (GRCm39) |
E1144G |
probably damaging |
Het |
Fmo3 |
T |
C |
1: 162,796,407 (GRCm39) |
Y55C |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,229,865 (GRCm39) |
T11A |
probably damaging |
Het |
Ghdc |
G |
T |
11: 100,660,929 (GRCm39) |
Q79K |
possibly damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm5591 |
T |
C |
7: 38,221,680 (GRCm39) |
T130A |
probably damaging |
Het |
Heg1 |
T |
G |
16: 33,540,142 (GRCm39) |
D367E |
probably benign |
Het |
Igkv13-84 |
C |
T |
6: 68,916,894 (GRCm39) |
P64S |
probably damaging |
Het |
Il10rb |
T |
A |
16: 91,211,545 (GRCm39) |
S128T |
possibly damaging |
Het |
Il15ra |
T |
A |
2: 11,723,117 (GRCm39) |
I47N |
probably damaging |
Het |
Il33 |
C |
A |
19: 29,936,311 (GRCm39) |
S207* |
probably null |
Het |
Itgb7 |
A |
G |
15: 102,132,848 (GRCm39) |
Y155H |
possibly damaging |
Het |
Kdm5a |
A |
G |
6: 120,346,060 (GRCm39) |
|
probably benign |
Het |
Kif11 |
G |
A |
19: 37,406,397 (GRCm39) |
V987I |
probably benign |
Het |
Krtap19-2 |
G |
A |
16: 88,670,762 (GRCm39) |
|
probably benign |
Het |
Krtap24-1 |
T |
A |
16: 88,408,417 (GRCm39) |
R236S |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,566,813 (GRCm39) |
I406V |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,290,059 (GRCm39) |
H3593Q |
possibly damaging |
Het |
Mavs |
G |
T |
2: 131,082,285 (GRCm39) |
W56C |
probably damaging |
Het |
Mn1 |
C |
T |
5: 111,567,526 (GRCm39) |
P499S |
probably damaging |
Het |
Ntn5 |
T |
A |
7: 45,340,895 (GRCm39) |
C178S |
probably damaging |
Het |
Nufip2 |
A |
G |
11: 77,577,154 (GRCm39) |
H34R |
unknown |
Het |
Or5p51 |
T |
A |
7: 107,444,755 (GRCm39) |
M62L |
possibly damaging |
Het |
Or6f2 |
T |
A |
7: 139,756,363 (GRCm39) |
L110Q |
probably damaging |
Het |
Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
Pitpna |
T |
A |
11: 75,511,153 (GRCm39) |
M242K |
possibly damaging |
Het |
Pnpla6 |
T |
C |
8: 3,572,838 (GRCm39) |
V345A |
probably benign |
Het |
Polk |
A |
G |
13: 96,632,999 (GRCm39) |
|
probably null |
Het |
Polr3k |
A |
G |
2: 181,506,340 (GRCm39) |
Y30C |
probably damaging |
Het |
Pramel6 |
A |
G |
2: 87,339,941 (GRCm39) |
H235R |
probably benign |
Het |
Ptpra |
G |
A |
2: 130,379,537 (GRCm39) |
V364I |
probably damaging |
Het |
Recql |
A |
G |
6: 142,309,426 (GRCm39) |
|
probably benign |
Het |
Ring1 |
T |
C |
17: 34,241,263 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Samsn1 |
C |
A |
16: 75,744,177 (GRCm39) |
|
noncoding transcript |
Het |
Scara5 |
A |
G |
14: 65,968,198 (GRCm39) |
H157R |
probably benign |
Het |
Sdc3 |
C |
T |
4: 130,546,376 (GRCm39) |
P245L |
probably damaging |
Het |
Slc18b1 |
T |
A |
10: 23,696,767 (GRCm39) |
M318K |
possibly damaging |
Het |
Slc26a10 |
C |
T |
10: 127,009,224 (GRCm39) |
A638T |
possibly damaging |
Het |
Slc35f2 |
T |
A |
9: 53,717,013 (GRCm39) |
W259R |
possibly damaging |
Het |
Spata13 |
G |
A |
14: 60,991,356 (GRCm39) |
W366* |
probably null |
Het |
Sptlc3 |
A |
G |
2: 139,431,509 (GRCm39) |
T344A |
probably benign |
Het |
Tap1 |
T |
C |
17: 34,412,865 (GRCm39) |
V560A |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,598,707 (GRCm39) |
Y231C |
possibly damaging |
Het |
Tmem245 |
A |
T |
4: 56,936,468 (GRCm39) |
S230T |
possibly damaging |
Het |
Tnnt3 |
C |
T |
7: 142,068,020 (GRCm39) |
|
probably benign |
Het |
Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,804,601 (GRCm39) |
|
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,468,397 (GRCm39) |
S129P |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,776,237 (GRCm39) |
N1727I |
probably damaging |
Het |
Ttc7b |
A |
G |
12: 100,369,621 (GRCm39) |
S383P |
probably damaging |
Het |
Tulp3 |
T |
A |
6: 128,300,083 (GRCm39) |
I448F |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
Vav1 |
G |
A |
17: 57,603,552 (GRCm39) |
V84I |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,416,110 (GRCm39) |
K243I |
possibly damaging |
Het |
Vmn1r25 |
T |
A |
6: 57,956,011 (GRCm39) |
I93F |
probably damaging |
Het |
Vmn2r73 |
C |
T |
7: 85,520,923 (GRCm39) |
W348* |
probably null |
Het |
Zdbf2 |
A |
G |
1: 63,342,397 (GRCm39) |
R259G |
possibly damaging |
Het |
|
Other mutations in Tbc1d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02007:Tbc1d1
|
APN |
5 |
64,414,335 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02341:Tbc1d1
|
APN |
5 |
64,432,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02353:Tbc1d1
|
APN |
5 |
64,414,179 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02360:Tbc1d1
|
APN |
5 |
64,414,179 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02963:Tbc1d1
|
APN |
5 |
64,421,709 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03003:Tbc1d1
|
APN |
5 |
64,473,781 (GRCm39) |
missense |
probably damaging |
1.00 |
Betrayal
|
UTSW |
5 |
64,330,827 (GRCm39) |
missense |
probably damaging |
1.00 |
Perfidy
|
UTSW |
5 |
64,492,620 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0035:Tbc1d1
|
UTSW |
5 |
64,414,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Tbc1d1
|
UTSW |
5 |
64,481,797 (GRCm39) |
missense |
probably damaging |
0.96 |
R0321:Tbc1d1
|
UTSW |
5 |
64,496,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0559:Tbc1d1
|
UTSW |
5 |
64,331,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R1296:Tbc1d1
|
UTSW |
5 |
64,421,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R1922:Tbc1d1
|
UTSW |
5 |
64,468,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Tbc1d1
|
UTSW |
5 |
64,502,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R2095:Tbc1d1
|
UTSW |
5 |
64,473,844 (GRCm39) |
missense |
probably benign |
0.01 |
R2107:Tbc1d1
|
UTSW |
5 |
64,442,048 (GRCm39) |
missense |
probably benign |
0.19 |
R2253:Tbc1d1
|
UTSW |
5 |
64,442,143 (GRCm39) |
missense |
probably benign |
0.00 |
R3545:Tbc1d1
|
UTSW |
5 |
64,443,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R3546:Tbc1d1
|
UTSW |
5 |
64,443,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R3547:Tbc1d1
|
UTSW |
5 |
64,443,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Tbc1d1
|
UTSW |
5 |
64,473,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R4289:Tbc1d1
|
UTSW |
5 |
64,417,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R4380:Tbc1d1
|
UTSW |
5 |
64,490,891 (GRCm39) |
missense |
probably benign |
0.29 |
R4405:Tbc1d1
|
UTSW |
5 |
64,331,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4564:Tbc1d1
|
UTSW |
5 |
64,330,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Tbc1d1
|
UTSW |
5 |
64,420,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R5256:Tbc1d1
|
UTSW |
5 |
64,439,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5268:Tbc1d1
|
UTSW |
5 |
64,481,910 (GRCm39) |
missense |
probably damaging |
0.99 |
R5510:Tbc1d1
|
UTSW |
5 |
64,490,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R5547:Tbc1d1
|
UTSW |
5 |
64,481,887 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5620:Tbc1d1
|
UTSW |
5 |
64,331,055 (GRCm39) |
missense |
probably benign |
0.44 |
R5680:Tbc1d1
|
UTSW |
5 |
64,481,887 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5874:Tbc1d1
|
UTSW |
5 |
64,507,273 (GRCm39) |
makesense |
probably null |
|
R6002:Tbc1d1
|
UTSW |
5 |
64,490,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Tbc1d1
|
UTSW |
5 |
64,435,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6092:Tbc1d1
|
UTSW |
5 |
64,507,242 (GRCm39) |
missense |
probably benign |
0.00 |
R6118:Tbc1d1
|
UTSW |
5 |
64,441,380 (GRCm39) |
missense |
probably damaging |
0.98 |
R6183:Tbc1d1
|
UTSW |
5 |
64,432,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R6447:Tbc1d1
|
UTSW |
5 |
64,490,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R6824:Tbc1d1
|
UTSW |
5 |
64,414,245 (GRCm39) |
missense |
probably benign |
0.02 |
R6913:Tbc1d1
|
UTSW |
5 |
64,468,452 (GRCm39) |
missense |
probably benign |
0.26 |
R7039:Tbc1d1
|
UTSW |
5 |
64,442,100 (GRCm39) |
missense |
probably benign |
0.08 |
R7150:Tbc1d1
|
UTSW |
5 |
64,330,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7154:Tbc1d1
|
UTSW |
5 |
64,331,156 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7316:Tbc1d1
|
UTSW |
5 |
64,492,620 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7621:Tbc1d1
|
UTSW |
5 |
64,421,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7653:Tbc1d1
|
UTSW |
5 |
64,414,133 (GRCm39) |
missense |
probably benign |
0.21 |
R7684:Tbc1d1
|
UTSW |
5 |
64,473,829 (GRCm39) |
missense |
probably benign |
0.13 |
R7816:Tbc1d1
|
UTSW |
5 |
64,507,095 (GRCm39) |
missense |
probably damaging |
0.98 |
R8832:Tbc1d1
|
UTSW |
5 |
64,442,020 (GRCm39) |
splice site |
probably benign |
|
R9027:Tbc1d1
|
UTSW |
5 |
64,414,349 (GRCm39) |
missense |
probably benign |
0.01 |
R9287:Tbc1d1
|
UTSW |
5 |
64,435,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R9546:Tbc1d1
|
UTSW |
5 |
64,330,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9547:Tbc1d1
|
UTSW |
5 |
64,330,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9577:Tbc1d1
|
UTSW |
5 |
64,473,699 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9599:Tbc1d1
|
UTSW |
5 |
64,502,701 (GRCm39) |
missense |
probably benign |
0.28 |
R9605:Tbc1d1
|
UTSW |
5 |
64,443,350 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Tbc1d1
|
UTSW |
5 |
64,432,795 (GRCm39) |
missense |
probably benign |
0.04 |
Z1088:Tbc1d1
|
UTSW |
5 |
64,432,736 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCTCCTGTGCACCAAAG -3'
(R):5'- CTCTTGGGAGCAGGAAATCC -3'
Sequencing Primer
(F):5'- CAGAGAATATTGGGAGTGACC -3'
(R):5'- AGTGTAAGTTCCCAGCACTTG -3'
|
Posted On |
2015-12-29 |