Incidental Mutation 'R7684:Tbc1d1'
| ID |
592931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
067780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64473829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 784
(M784K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
| AlphaFold |
Q60949 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043893
AA Change: M877K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: M877K
| 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 benign
Transcript: ENSMUST00000101195
AA Change: M784K
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: M784K
| 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: ENSMUST00000119756
AA Change: M655K
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: M655K
| 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 benign
Transcript: ENSMUST00000121370
AA Change: M784K
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: M784K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,760,659 (GRCm39) |
K1239* |
probably null |
Het |
| Abhd6 |
T |
C |
14: 8,039,807 (GRCm38) |
F60S |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,455,196 (GRCm39) |
W671* |
probably null |
Het |
| Ankrd36 |
A |
G |
11: 5,520,113 (GRCm39) |
T63A |
possibly damaging |
Het |
| Arhgef16 |
A |
G |
4: 154,366,285 (GRCm39) |
V494A |
possibly damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,869,663 (GRCm39) |
M659K |
probably benign |
Het |
| Cacna1h |
A |
G |
17: 25,608,346 (GRCm39) |
Y854H |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,248,692 (GRCm39) |
F780I |
possibly damaging |
Het |
| Cldn8 |
A |
G |
16: 88,359,335 (GRCm39) |
Y197H |
probably damaging |
Het |
| Cpne8 |
A |
T |
15: 90,533,450 (GRCm39) |
D58E |
probably damaging |
Het |
| Cul9 |
T |
G |
17: 46,820,815 (GRCm39) |
Y1954S |
probably damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,375,549 (GRCm39) |
F11I |
probably benign |
Het |
| Cysrt1 |
A |
T |
2: 25,129,094 (GRCm39) |
C139* |
probably null |
Het |
| Dnajc16 |
A |
G |
4: 141,501,879 (GRCm39) |
V317A |
probably benign |
Het |
| Dnmt3a |
T |
C |
12: 3,947,340 (GRCm39) |
V437A |
probably benign |
Het |
| Dok5 |
T |
C |
2: 170,683,344 (GRCm39) |
C202R |
probably damaging |
Het |
| Dusp11 |
T |
A |
6: 85,927,542 (GRCm39) |
R164S |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,077,117 (GRCm39) |
S648P |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,744,334 (GRCm39) |
R581S |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,115,094 (GRCm39) |
F226S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,845,218 (GRCm39) |
I1541T |
unknown |
Het |
| Exd1 |
A |
G |
2: 119,350,684 (GRCm39) |
S526P |
probably damaging |
Het |
| Fam118a |
A |
G |
15: 84,942,982 (GRCm39) |
E337G |
possibly damaging |
Het |
| Fam20b |
T |
C |
1: 156,518,215 (GRCm39) |
N193S |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,899,564 (GRCm39) |
|
probably null |
Het |
| Flg2 |
T |
C |
3: 93,126,956 (GRCm39) |
V1956A |
unknown |
Het |
| Fzd10 |
A |
G |
5: 128,678,480 (GRCm39) |
I67V |
possibly damaging |
Het |
| Gckr |
A |
T |
5: 31,465,141 (GRCm39) |
D370V |
probably damaging |
Het |
| Gm8797 |
A |
T |
3: 5,816,148 (GRCm39) |
Q62L |
probably benign |
Het |
| H6pd |
G |
T |
4: 150,080,519 (GRCm39) |
Q109K |
probably benign |
Het |
| Higd1a |
T |
C |
9: 121,679,322 (GRCm39) |
K55R |
possibly damaging |
Het |
| Il1b |
C |
T |
2: 129,209,277 (GRCm39) |
V118I |
probably benign |
Het |
| Insr |
T |
C |
8: 3,219,753 (GRCm39) |
N923S |
possibly damaging |
Het |
| Krit1 |
A |
G |
5: 3,880,723 (GRCm39) |
I561V |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,002,771 (GRCm39) |
D1070G |
probably null |
Het |
| Lpcat2 |
T |
A |
8: 93,635,823 (GRCm39) |
D408E |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,788,762 (GRCm39) |
F427Y |
probably benign |
Het |
| Mtx1 |
A |
T |
3: 89,117,739 (GRCm39) |
I258K |
possibly damaging |
Het |
| Nckap5 |
T |
C |
1: 125,954,594 (GRCm39) |
T653A |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,115,609 (GRCm39) |
N844Y |
probably damaging |
Het |
| Nrg3 |
A |
T |
14: 39,194,522 (GRCm39) |
L79Q |
probably damaging |
Het |
| Nsmce1 |
C |
A |
7: 125,070,348 (GRCm39) |
K154N |
probably damaging |
Het |
| Oard1 |
T |
C |
17: 48,723,726 (GRCm39) |
L124P |
probably damaging |
Het |
| Or10ag57 |
T |
C |
2: 87,218,372 (GRCm39) |
S108P |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,471 (GRCm39) |
M104V |
probably benign |
Het |
| Or51a10 |
G |
A |
7: 103,698,667 (GRCm39) |
T298I |
probably damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,210,425 (GRCm39) |
F247S |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,887,272 (GRCm39) |
T223S |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,987,312 (GRCm39) |
Y536* |
probably null |
Het |
| Plekho2 |
A |
T |
9: 65,466,816 (GRCm39) |
|
probably null |
Het |
| Prelid3b |
T |
C |
2: 174,310,210 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,578,214 (GRCm39) |
N159I |
possibly damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,311 (GRCm39) |
Q557R |
probably damaging |
Het |
| Slc22a18 |
G |
T |
7: 143,044,577 (GRCm39) |
V177L |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,587,294 (GRCm39) |
I451M |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,454,670 (GRCm39) |
S563P |
probably damaging |
Het |
| Snx20 |
T |
C |
8: 89,353,863 (GRCm39) |
D289G |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,658,969 (GRCm39) |
Y1189H |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,038,559 (GRCm39) |
|
probably benign |
Het |
| Tfap2b |
G |
C |
1: 19,284,511 (GRCm39) |
D140H |
probably damaging |
Het |
| Thy1 |
G |
A |
9: 43,957,855 (GRCm39) |
G13D |
unknown |
Het |
| Ticam1 |
A |
G |
17: 56,576,984 (GRCm39) |
S704P |
unknown |
Het |
| Tmem151b |
A |
G |
17: 45,857,929 (GRCm39) |
Y106H |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,996,559 (GRCm39) |
N452S |
probably benign |
Het |
| Ttc9c |
A |
G |
19: 8,789,128 (GRCm39) |
Y166H |
probably damaging |
Het |
| Txndc16 |
A |
G |
14: 45,385,325 (GRCm39) |
V556A |
possibly damaging |
Het |
| Tyrp1 |
C |
A |
4: 80,758,862 (GRCm39) |
S245Y |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,583,006 (GRCm39) |
L621* |
probably null |
Het |
| Wdr72 |
A |
T |
9: 74,054,292 (GRCm39) |
T224S |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 123,134,165 (GRCm39) |
S544A |
unknown |
Het |
| Zfp462 |
T |
A |
4: 55,008,908 (GRCm39) |
N291K |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,638,362 (GRCm39) |
N290S |
possibly damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,799 (GRCm39) |
H303Q |
probably 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 |
|
R4779:Tbc1d1
|
UTSW |
5 |
64,435,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- GCCAGTGTGTCTAAGAGGAG -3'
(R):5'- ATACTGGTGCCTGGTTTTCC -3'
Sequencing Primer
(F):5'- TTGGCTACAACTCGGGAGCTC -3'
(R):5'- ATGGAACCTACATCAATCAATTAGAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation