Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Tbc1d32'

289388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, C6orf170, Bromi, b2b2284Clo

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.886) question?

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

56014293-56228689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56224619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 88 (S88P)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably benign
Transcript: ENSMUST00000099739
AA Change: S88P

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: S88P

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	T	C	2: 85,493,296	I298V	possibly damaging	Het
Akap12	G	A	10: 4,354,722	D511N	probably damaging	Het
Akt3	T	A	1: 177,059,386	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,591,347	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,351,228		probably null	Het
Capn9	C	A	8: 124,594,677	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,972,643	D450V	probably damaging	Het
Ctrb1	C	T	8: 111,687,130	A201T	possibly damaging	Het
Erp27	T	C	6: 136,911,546	T145A	probably damaging	Het
Fanca	A	T	8: 123,305,263	L256Q	probably damaging	Het
Fars2	G	A	13: 36,537,380	V433I	probably benign	Het
Fbxo9	T	A	9: 78,109,007	M1L	probably benign	Het
Fcnb	C	A	2: 28,084,830	V10F	possibly damaging	Het
Gad2	C	T	2: 22,629,393	H175Y	probably damaging	Het
Get4	G	A	5: 139,252,499	G12D	probably benign	Het
Gmpr2	T	A	14: 55,678,301	I312N	probably damaging	Het
Golm1	T	A	13: 59,638,377	M334L	probably benign	Het
Itgam	T	A	7: 128,116,300	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,706,473		probably benign	Het
Kif3b	G	A	2: 153,316,893	A205T	probably damaging	Het
Macf1	C	T	4: 123,512,866	V276M	probably damaging	Het
Mdga2	T	A	12: 66,550,575	N715I	probably damaging	Het
Mfap5	T	A	6: 122,526,787	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,517,982	V876M	probably damaging	Het
Ncor1	A	T	11: 62,333,659		probably benign	Het
Nfya	G	A	17: 48,393,276	Q122*	probably null	Het
Nup210l	G	A	3: 90,104,164		probably benign	Het
Olfr190	T	G	16: 59,074,949	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,498,808	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,654,647	S153T	probably benign	Het
Ptpn4	T	C	1: 119,682,722	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,720,376	R144G	probably damaging	Het
S1pr4	A	C	10: 81,499,021	Y206*	probably null	Het
Slc39a14	A	G	14: 70,316,436		probably null	Het
Stx2	G	A	5: 128,988,830	A254V	probably damaging	Het
Sumf2	G	T	5: 129,859,870	G216C	probably damaging	Het
Trem1	T	A	17: 48,232,796	M1K	probably null	Het
Trmt1l	T	C	1: 151,450,006	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,622,938	M130L	probably damaging	Het
Wnk1	T	C	6: 119,963,328	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,732,082	G165D	probably damaging	Het
Zscan21	A	G	5: 138,133,383	T390A	probably damaging	Het
Zswim7	G	T	11: 62,268,755	C85*	probably null	Het

Other mutations in Tbc1d32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tbc1d32	APN	10	56155765	missense	probably damaging	1.00
IGL00535:Tbc1d32	APN	10	56215125	splice site	probably benign
IGL00835:Tbc1d32	APN	10	56089846	splice site	probably benign
IGL01013:Tbc1d32	APN	10	56201959	splice site	probably null
IGL01306:Tbc1d32	APN	10	56180524	missense	probably benign	0.14
IGL01452:Tbc1d32	APN	10	56215080	missense	possibly damaging	0.71
IGL01668:Tbc1d32	APN	10	56123577	missense	probably benign	0.37
IGL02008:Tbc1d32	APN	10	56151775	missense	possibly damaging	0.71
IGL02076:Tbc1d32	APN	10	56088403	missense	possibly damaging	0.93
IGL02476:Tbc1d32	APN	10	56198542	missense	possibly damaging	0.71
IGL02750:Tbc1d32	APN	10	56198491	missense	possibly damaging	0.95
IGL02893:Tbc1d32	APN	10	56017703	missense	probably damaging	0.98
ANU23:Tbc1d32	UTSW	10	56180524	missense	probably benign	0.14
P0035:Tbc1d32	UTSW	10	56198439	missense	probably damaging	1.00
R0118:Tbc1d32	UTSW	10	56017605	missense	probably benign	0.02
R0446:Tbc1d32	UTSW	10	56192898	missense	possibly damaging	0.93
R0567:Tbc1d32	UTSW	10	56173963	missense	possibly damaging	0.71
R0615:Tbc1d32	UTSW	10	56224640	missense	probably benign	0.33
R0679:Tbc1d32	UTSW	10	56180576	missense	probably damaging	0.99
R0943:Tbc1d32	UTSW	10	56161147	missense	probably benign
R1432:Tbc1d32	UTSW	10	56017662	missense	probably damaging	0.99
R1454:Tbc1d32	UTSW	10	56177479	splice site	probably benign
R1708:Tbc1d32	UTSW	10	56151769	missense	possibly damaging	0.84
R1834:Tbc1d32	UTSW	10	56017604	missense	probably benign	0.00
R1860:Tbc1d32	UTSW	10	56123537	nonsense	probably null
R2208:Tbc1d32	UTSW	10	56150792	critical splice donor site	probably null
R3012:Tbc1d32	UTSW	10	56173915	missense	probably benign	0.08
R3736:Tbc1d32	UTSW	10	56129093	missense	probably damaging	0.99
R4184:Tbc1d32	UTSW	10	56224580	missense	probably benign	0.15
R4259:Tbc1d32	UTSW	10	56049771	missense	probably damaging	0.97
R4617:Tbc1d32	UTSW	10	56170904	missense	possibly damaging	0.92
R4700:Tbc1d32	UTSW	10	56224649	missense	probably damaging	0.98
R4794:Tbc1d32	UTSW	10	56196836	missense	possibly damaging	0.92
R4879:Tbc1d32	UTSW	10	56049029	splice site	probably null
R5031:Tbc1d32	UTSW	10	56123531	missense	probably damaging	0.98
R5036:Tbc1d32	UTSW	10	56195404	nonsense	probably null
R5276:Tbc1d32	UTSW	10	56151818	missense	probably damaging	0.99
R5358:Tbc1d32	UTSW	10	56170937	missense	possibly damaging	0.93
R5429:Tbc1d32	UTSW	10	56027993	missense	probably damaging	0.99
R5435:Tbc1d32	UTSW	10	56040150	missense	probably damaging	0.98
R5451:Tbc1d32	UTSW	10	56195475	missense	possibly damaging	0.95
R5607:Tbc1d32	UTSW	10	56129150	missense	possibly damaging	0.92
R5642:Tbc1d32	UTSW	10	56150877	missense	possibly damaging	0.82
R5732:Tbc1d32	UTSW	10	56088393	missense	probably damaging	0.99
R5795:Tbc1d32	UTSW	10	56215062	missense	possibly damaging	0.71
R5988:Tbc1d32	UTSW	10	56088337	missense	probably damaging	0.98
R6054:Tbc1d32	UTSW	10	56162208	missense	possibly damaging	0.95
R6103:Tbc1d32	UTSW	10	56150883	missense	probably damaging	0.99
R6277:Tbc1d32	UTSW	10	56195429	missense	probably benign
R6422:Tbc1d32	UTSW	10	56028061	nonsense	probably null
R6508:Tbc1d32	UTSW	10	56224690	missense	probably damaging	0.98
R6859:Tbc1d32	UTSW	10	56180530	missense	probably damaging	0.98
R6887:Tbc1d32	UTSW	10	56151811	nonsense	probably null
R7012:Tbc1d32	UTSW	10	56224724	missense	probably damaging	0.99
R7253:Tbc1d32	UTSW	10	56198441	missense	probably benign
R7288:Tbc1d32	UTSW	10	56051387	critical splice donor site	probably null
R7599:Tbc1d32	UTSW	10	56151833	missense	possibly damaging	0.92
R8338:Tbc1d32	UTSW	10	56028077	missense	possibly damaging	0.85
R8814:Tbc1d32	UTSW	10	56196592	missense	possibly damaging	0.93
R8864:Tbc1d32	UTSW	10	56087559	missense	probably benign	0.01
R9018:Tbc1d32	UTSW	10	56072597	missense	probably benign	0.02
R9030:Tbc1d32	UTSW	10	56161145	missense	possibly damaging	0.92
R9530:Tbc1d32	UTSW	10	56196411	missense	probably damaging	0.98
R9616:Tbc1d32	UTSW	10	56161150	missense	possibly damaging	0.85
Z1188:Tbc1d32	UTSW	10	56170881	missense	probably damaging	0.99

Posted On

2015-04-16