Mutagenetix > Incidental Mutation

Incidental Mutation 'R4259:Tbc1d32'

322568

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, Bromi, b2b2284Clo, C6orf170

MMRRC Submission

041072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R4259 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55890389-56104785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55925867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1093 (S1093P)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099739
AA Change: S1093P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: S1093P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Meta Mutation Damage Score

0.2707

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (40/41)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,066 (GRCm39)	S298P	probably damaging	Het
4930407I10Rik	A	G	15: 81,947,927 (GRCm39)	D608G	possibly damaging	Het
Actr10	T	C	12: 70,999,759 (GRCm39)	V185A	probably benign	Het
Cd248	A	G	19: 5,118,866 (GRCm39)	D238G	probably damaging	Het
Cep290	A	C	10: 100,350,354 (GRCm39)	E649D	probably damaging	Het
Cyp2b19	G	A	7: 26,462,807 (GRCm39)	G230S	probably damaging	Het
Dnah12	A	G	14: 26,520,883 (GRCm39)	I1901V	probably benign	Het
Garin1b	C	G	6: 29,320,800 (GRCm39)	I141M	probably damaging	Het
Gpr171	A	G	3: 59,004,948 (GRCm39)	S276P	probably damaging	Het
Hap1	C	A	11: 100,242,668 (GRCm39)		probably null	Het
Hcn1	A	T	13: 118,111,884 (GRCm39)	K616M	unknown	Het
Igkv4-90	T	C	6: 68,784,461 (GRCm39)	I18M	possibly damaging	Het
Itpr3	T	A	17: 27,325,298 (GRCm39)	V1297E	probably damaging	Het
Kmt2b	T	C	7: 30,280,506 (GRCm39)	N1319D	probably damaging	Het
Krt72	T	C	15: 101,686,692 (GRCm39)	E418G	probably damaging	Het
Lama1	T	C	17: 68,059,413 (GRCm39)	S599P	possibly damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrk1	A	T	7: 65,980,512 (GRCm39)	Y223N	probably damaging	Het
Or5p57	T	A	7: 107,665,100 (GRCm39)	K272*	probably null	Het
Or8g50	A	T	9: 39,648,999 (GRCm39)	D296V	probably damaging	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Pdgfrb	A	C	18: 61,210,703 (GRCm39)	T737P	probably benign	Het
Pdk2	T	C	11: 94,931,970 (GRCm39)	D38G	probably benign	Het
Pgk2	T	G	17: 40,518,274 (GRCm39)	T385P	probably benign	Het
Prl3b1	T	C	13: 27,427,889 (GRCm39)		probably null	Het
Sat1	T	C	X: 153,998,182 (GRCm39)		probably benign	Het
Sgo2b	A	T	8: 64,381,330 (GRCm39)	F501I	probably benign	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Slc26a1	T	A	5: 108,820,496 (GRCm39)	K250N	probably damaging	Het
Slc38a4	A	G	15: 96,896,374 (GRCm39)	Y498H	probably damaging	Het
Slc5a4b	A	G	10: 75,939,686 (GRCm39)	L150P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAACTGAGCCTAAGGACCATAGG -3'
(R):5'- AGTCTTCAAAACTCCAGACCTTGAG -3'

Sequencing Primer
(F):5'- GTGTGCTAACACATCCTATG -3'
(R):5'- CACCATACACTGTGATGGATTTC -3'

Posted On

2015-06-20