Incidental Mutation 'R7599:Tbc1d32'
ID |
587913 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d32
|
Ensembl Gene |
ENSMUSG00000038122 |
Gene Name |
TBC1 domain family, member 32 |
Synonyms |
D630037F22Rik, Bromi, b2b2284Clo, C6orf170 |
MMRRC Submission |
045673-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.922)
|
Stock # |
R7599 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
55890389-56104785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56027929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 724
(F724L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099739]
|
AlphaFold |
Q3URV1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099739
AA Change: F724L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097328 Gene: ENSMUSG00000038122 AA Change: F724L
Domain | Start | End | E-Value | Type |
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 90,009,256 (GRCm39) |
S136G |
probably benign |
Het |
Apba3 |
T |
A |
10: 81,108,180 (GRCm39) |
N445K |
probably damaging |
Het |
Aqp6 |
A |
G |
15: 99,501,652 (GRCm39) |
K237E |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,391,169 (GRCm39) |
T1229A |
probably benign |
Het |
Bpifb1 |
T |
C |
2: 154,056,071 (GRCm39) |
I379T |
probably damaging |
Het |
Bpnt2 |
G |
A |
4: 4,778,207 (GRCm39) |
T177I |
probably damaging |
Het |
Ccdc169 |
A |
G |
3: 55,047,530 (GRCm39) |
D7G |
probably damaging |
Het |
Cyp2f2 |
T |
A |
7: 26,830,784 (GRCm39) |
|
probably null |
Het |
Daam2 |
T |
A |
17: 49,787,755 (GRCm39) |
K453* |
probably null |
Het |
Dennd4c |
T |
C |
4: 86,729,849 (GRCm39) |
L817P |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,755,189 (GRCm39) |
R1376W |
probably damaging |
Het |
Esrra |
G |
T |
19: 6,891,214 (GRCm39) |
A182E |
possibly damaging |
Het |
Fam234b |
T |
A |
6: 135,203,874 (GRCm39) |
V392E |
probably damaging |
Het |
Fanca |
A |
G |
8: 123,997,999 (GRCm39) |
V1229A |
probably benign |
Het |
Fdps |
G |
T |
3: 89,006,693 (GRCm39) |
Q66K |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,499,438 (GRCm39) |
D1269E |
probably benign |
Het |
Foxred1 |
G |
A |
9: 35,116,932 (GRCm39) |
R353W |
probably damaging |
Het |
Gabrg2 |
C |
T |
11: 41,858,451 (GRCm39) |
V226I |
possibly damaging |
Het |
Gcnt2 |
C |
A |
13: 41,014,343 (GRCm39) |
C171* |
probably null |
Het |
Glyat |
C |
A |
19: 12,617,172 (GRCm39) |
A8E |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,695,758 (GRCm39) |
R86S |
unknown |
Het |
Hc |
T |
A |
2: 34,940,431 (GRCm39) |
T136S |
probably damaging |
Het |
Hdac1 |
G |
T |
4: 129,411,259 (GRCm39) |
S421* |
probably null |
Het |
Hmcn2 |
G |
T |
2: 31,246,298 (GRCm39) |
A756S |
possibly damaging |
Het |
Igkv8-26 |
A |
G |
6: 70,170,571 (GRCm39) |
N54S |
probably benign |
Het |
Itgae |
T |
A |
11: 73,012,786 (GRCm39) |
V706E |
possibly damaging |
Het |
Itgax |
G |
A |
7: 127,747,262 (GRCm39) |
V992M |
probably damaging |
Het |
Klk10 |
A |
G |
7: 43,433,851 (GRCm39) |
D221G |
probably benign |
Het |
Klkb1 |
T |
C |
8: 45,731,150 (GRCm39) |
I205V |
probably benign |
Het |
Kpna2 |
T |
C |
11: 106,889,583 (GRCm39) |
N8S |
probably null |
Het |
L3mbtl1 |
A |
C |
2: 162,806,434 (GRCm39) |
T442P |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,551,561 (GRCm39) |
C4181Y |
|
Het |
Mcat |
T |
C |
15: 83,431,872 (GRCm39) |
Y332C |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,010,534 (GRCm39) |
D648G |
probably damaging |
Het |
Mesp2 |
A |
T |
7: 79,460,717 (GRCm39) |
D14V |
probably damaging |
Het |
Mlh3 |
A |
T |
12: 85,314,973 (GRCm39) |
Y404* |
probably null |
Het |
Mterf3 |
A |
T |
13: 67,065,212 (GRCm39) |
F230I |
probably damaging |
Het |
Nrxn3 |
T |
C |
12: 89,478,832 (GRCm39) |
V602A |
probably benign |
Het |
Or4a74 |
T |
A |
2: 89,439,571 (GRCm39) |
I292F |
possibly damaging |
Het |
Plekhg6 |
A |
G |
6: 125,351,623 (GRCm39) |
F209L |
probably damaging |
Het |
Pmp22 |
C |
A |
11: 63,049,174 (GRCm39) |
A139D |
probably damaging |
Het |
Polr2e |
T |
C |
10: 79,874,404 (GRCm39) |
D34G |
possibly damaging |
Het |
Ppard |
T |
A |
17: 28,516,091 (GRCm39) |
L105H |
probably damaging |
Het |
Ptpn14 |
T |
A |
1: 189,582,942 (GRCm39) |
D596E |
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,002,518 (GRCm39) |
A1536V |
not run |
Het |
Qng1 |
T |
A |
13: 58,529,649 (GRCm39) |
H321L |
probably damaging |
Het |
Rabgap1 |
TGGGG |
TGGG |
2: 37,392,908 (GRCm39) |
|
probably null |
Het |
Retreg1 |
T |
A |
15: 25,971,727 (GRCm39) |
D222E |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,363,404 (GRCm39) |
K282R |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sall3 |
C |
T |
18: 81,015,267 (GRCm39) |
R887H |
possibly damaging |
Het |
Samd3 |
A |
G |
10: 26,139,711 (GRCm39) |
D281G |
probably benign |
Het |
Scube1 |
T |
A |
15: 83,497,653 (GRCm39) |
D766V |
probably damaging |
Het |
Sec24b |
TGC |
TGCAGC |
3: 129,834,460 (GRCm39) |
|
probably benign |
Het |
Slc2a2 |
A |
G |
3: 28,752,166 (GRCm39) |
M1V |
probably null |
Het |
Slc39a2 |
A |
T |
14: 52,132,488 (GRCm39) |
T144S |
probably benign |
Het |
Slc5a9 |
T |
C |
4: 111,734,937 (GRCm39) |
H619R |
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,113,048 (GRCm39) |
F427L |
probably benign |
Het |
Snapc3 |
C |
A |
4: 83,336,073 (GRCm39) |
Y28* |
probably null |
Het |
St3gal6 |
C |
T |
16: 58,293,800 (GRCm39) |
R243H |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,066 (GRCm39) |
N119K |
possibly damaging |
Het |
Syne2 |
G |
C |
12: 76,013,145 (GRCm39) |
V2779L |
probably benign |
Het |
Tacc1 |
T |
A |
8: 25,691,301 (GRCm39) |
M1L |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,533,766 (GRCm39) |
I259T |
possibly damaging |
Het |
Ucn2 |
T |
C |
9: 108,815,292 (GRCm39) |
I18T |
probably benign |
Het |
Wdr35 |
G |
C |
12: 9,074,886 (GRCm39) |
A1000P |
probably benign |
Het |
Wnk1 |
C |
A |
6: 119,906,789 (GRCm39) |
C244F |
possibly damaging |
Het |
Zeb2 |
T |
G |
2: 44,884,625 (GRCm39) |
D1022A |
probably damaging |
Het |
Zfp26 |
A |
T |
9: 20,349,129 (GRCm39) |
H478Q |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,378,630 (GRCm39) |
K265R |
probably benign |
Het |
Zfp575 |
T |
C |
7: 24,286,093 (GRCm39) |
D21G |
probably benign |
Het |
|
Other mutations in Tbc1d32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Tbc1d32
|
APN |
10 |
56,031,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00535:Tbc1d32
|
APN |
10 |
56,091,221 (GRCm39) |
splice site |
probably benign |
|
IGL00835:Tbc1d32
|
APN |
10 |
55,965,942 (GRCm39) |
splice site |
probably benign |
|
IGL01013:Tbc1d32
|
APN |
10 |
56,078,055 (GRCm39) |
splice site |
probably null |
|
IGL01306:Tbc1d32
|
APN |
10 |
56,056,620 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01452:Tbc1d32
|
APN |
10 |
56,091,176 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01668:Tbc1d32
|
APN |
10 |
55,999,673 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02008:Tbc1d32
|
APN |
10 |
56,027,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02076:Tbc1d32
|
APN |
10 |
55,964,499 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02348:Tbc1d32
|
APN |
10 |
56,100,715 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02476:Tbc1d32
|
APN |
10 |
56,074,638 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02750:Tbc1d32
|
APN |
10 |
56,074,587 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02893:Tbc1d32
|
APN |
10 |
55,893,799 (GRCm39) |
missense |
probably damaging |
0.98 |
ANU23:Tbc1d32
|
UTSW |
10 |
56,056,620 (GRCm39) |
missense |
probably benign |
0.14 |
P0035:Tbc1d32
|
UTSW |
10 |
56,074,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Tbc1d32
|
UTSW |
10 |
55,893,701 (GRCm39) |
missense |
probably benign |
0.02 |
R0446:Tbc1d32
|
UTSW |
10 |
56,068,994 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0567:Tbc1d32
|
UTSW |
10 |
56,050,059 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0615:Tbc1d32
|
UTSW |
10 |
56,100,736 (GRCm39) |
missense |
probably benign |
0.33 |
R0679:Tbc1d32
|
UTSW |
10 |
56,056,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R0943:Tbc1d32
|
UTSW |
10 |
56,037,243 (GRCm39) |
missense |
probably benign |
|
R1432:Tbc1d32
|
UTSW |
10 |
55,893,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R1454:Tbc1d32
|
UTSW |
10 |
56,053,575 (GRCm39) |
splice site |
probably benign |
|
R1708:Tbc1d32
|
UTSW |
10 |
56,027,865 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1834:Tbc1d32
|
UTSW |
10 |
55,893,700 (GRCm39) |
missense |
probably benign |
0.00 |
R1860:Tbc1d32
|
UTSW |
10 |
55,999,633 (GRCm39) |
nonsense |
probably null |
|
R2208:Tbc1d32
|
UTSW |
10 |
56,026,888 (GRCm39) |
critical splice donor site |
probably null |
|
R3012:Tbc1d32
|
UTSW |
10 |
56,050,011 (GRCm39) |
missense |
probably benign |
0.08 |
R3736:Tbc1d32
|
UTSW |
10 |
56,005,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R4184:Tbc1d32
|
UTSW |
10 |
56,100,676 (GRCm39) |
missense |
probably benign |
0.15 |
R4259:Tbc1d32
|
UTSW |
10 |
55,925,867 (GRCm39) |
missense |
probably damaging |
0.97 |
R4617:Tbc1d32
|
UTSW |
10 |
56,047,000 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4700:Tbc1d32
|
UTSW |
10 |
56,100,745 (GRCm39) |
missense |
probably damaging |
0.98 |
R4794:Tbc1d32
|
UTSW |
10 |
56,072,932 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4879:Tbc1d32
|
UTSW |
10 |
55,925,125 (GRCm39) |
splice site |
probably null |
|
R5031:Tbc1d32
|
UTSW |
10 |
55,999,627 (GRCm39) |
missense |
probably damaging |
0.98 |
R5036:Tbc1d32
|
UTSW |
10 |
56,071,500 (GRCm39) |
nonsense |
probably null |
|
R5276:Tbc1d32
|
UTSW |
10 |
56,027,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R5358:Tbc1d32
|
UTSW |
10 |
56,047,033 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5429:Tbc1d32
|
UTSW |
10 |
55,904,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R5435:Tbc1d32
|
UTSW |
10 |
55,916,246 (GRCm39) |
missense |
probably damaging |
0.98 |
R5451:Tbc1d32
|
UTSW |
10 |
56,071,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5607:Tbc1d32
|
UTSW |
10 |
56,005,246 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5642:Tbc1d32
|
UTSW |
10 |
56,026,973 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5732:Tbc1d32
|
UTSW |
10 |
55,964,489 (GRCm39) |
missense |
probably damaging |
0.99 |
R5795:Tbc1d32
|
UTSW |
10 |
56,091,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5988:Tbc1d32
|
UTSW |
10 |
55,964,433 (GRCm39) |
missense |
probably damaging |
0.98 |
R6054:Tbc1d32
|
UTSW |
10 |
56,038,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6103:Tbc1d32
|
UTSW |
10 |
56,026,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R6277:Tbc1d32
|
UTSW |
10 |
56,071,525 (GRCm39) |
missense |
probably benign |
|
R6422:Tbc1d32
|
UTSW |
10 |
55,904,157 (GRCm39) |
nonsense |
probably null |
|
R6508:Tbc1d32
|
UTSW |
10 |
56,100,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R6859:Tbc1d32
|
UTSW |
10 |
56,056,626 (GRCm39) |
missense |
probably damaging |
0.98 |
R6887:Tbc1d32
|
UTSW |
10 |
56,027,907 (GRCm39) |
nonsense |
probably null |
|
R7012:Tbc1d32
|
UTSW |
10 |
56,100,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R7253:Tbc1d32
|
UTSW |
10 |
56,074,537 (GRCm39) |
missense |
probably benign |
|
R7288:Tbc1d32
|
UTSW |
10 |
55,927,483 (GRCm39) |
critical splice donor site |
probably null |
|
R8338:Tbc1d32
|
UTSW |
10 |
55,904,173 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8814:Tbc1d32
|
UTSW |
10 |
56,072,688 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8864:Tbc1d32
|
UTSW |
10 |
55,963,655 (GRCm39) |
missense |
probably benign |
0.01 |
R9018:Tbc1d32
|
UTSW |
10 |
55,948,693 (GRCm39) |
missense |
probably benign |
0.02 |
R9030:Tbc1d32
|
UTSW |
10 |
56,037,241 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9530:Tbc1d32
|
UTSW |
10 |
56,072,507 (GRCm39) |
missense |
probably damaging |
0.98 |
R9616:Tbc1d32
|
UTSW |
10 |
56,037,246 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1188:Tbc1d32
|
UTSW |
10 |
56,046,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAACATAGTCACAAACTGGGAAG -3'
(R):5'- GCTAGGCTTAAACTCAAACCAG -3'
Sequencing Primer
(F):5'- TCACAAACTGGGAAGTAGAATTTTAG -3'
(R):5'- GGTACTAATTCACTGTAAGGGTTTC -3'
|
Posted On |
2019-10-24 |