Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00490:Tbc1d32'

4723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, Bromi, b2b2284Clo, C6orf170

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

55890389-56104785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56031861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 689 (P689L)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099739]

AlphaFold

Q3URV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099739
AA Change: P689L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: P689L

Domain	Start	End	E-Value	Type
Pfam:BROMI	12	1293	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 129,905,665 (GRCm39)	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,171,172 (GRCm39)	M291T	probably benign	Het
Coq8b	C	A	7: 26,956,902 (GRCm39)	H518Q	probably benign	Het
Crebrf	A	G	17: 26,962,067 (GRCm39)	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,287,515 (GRCm39)	S244T	possibly damaging	Het
Ddr2	A	T	1: 169,832,763 (GRCm39)	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,691,164 (GRCm39)	D251E	probably damaging	Het
Fam210a	G	T	18: 68,401,983 (GRCm39)	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,364,572 (GRCm39)	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,221,337 (GRCm39)	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,731,526 (GRCm39)	K335N	probably benign	Het
Loxhd1	A	T	18: 77,518,770 (GRCm39)	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,747,413 (GRCm39)	L484P	probably damaging	Het
Myt1l	T	A	12: 29,877,423 (GRCm39)	V358E	unknown	Het
Mzt1	A	G	14: 99,278,106 (GRCm39)		probably benign	Het
Nrxn2	C	A	19: 6,523,623 (GRCm39)	H514Q	possibly damaging	Het
Nup214	G	A	2: 31,923,991 (GRCm39)	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,442,969 (GRCm39)	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,239,198 (GRCm39)		probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Smcr8	T	A	11: 60,669,458 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,740,621 (GRCm39)	D46E	probably damaging	Het
Tep1	C	A	14: 51,070,930 (GRCm39)	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,845,048 (GRCm39)	E8G	probably benign	Het
Tmem236	A	G	2: 14,224,189 (GRCm39)	Y326C	probably damaging	Het
Trip4	C	T	9: 65,740,692 (GRCm39)	G573R	probably damaging	Het
Trrap	C	T	5: 144,762,035 (GRCm39)	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,816 (GRCm39)	N435S	probably damaging	Het
Ube3a	A	G	7: 58,921,858 (GRCm39)	N77D	probably damaging	Het
Uvrag	A	T	7: 98,628,948 (GRCm39)	I373N	probably damaging	Het

Other mutations in Tbc1d32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7599:Tbc1d32	UTSW	10	56,027,929 (GRCm39)	missense	possibly damaging	0.92
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

Posted On

2012-04-20