Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01946:Rab3ip'

180972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab3ip

Ensembl Gene

ENSMUSG00000064181

Gene Name

RAB3A interacting protein

Synonyms

Rabin3, Gtpat12, SSX2 interacting protein

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01946

Quality Score

Status

Chromosome

Chromosomal Location

116905784-116950769 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 116937395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020375] [ENSMUST00000218391] [ENSMUST00000219109] [ENSMUST00000219603]

AlphaFold

Q68EF0

Predicted Effect

probably null
Transcript: ENSMUST00000020375

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181

Domain	Start	End	E-Value	Type
low complexity region	84	100	N/A	INTRINSIC
PDB:4LHZ\|F	157	200	9e-15	PDB
low complexity region	213	220	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218391

Predicted Effect

probably null
Transcript: ENSMUST00000219109

Predicted Effect

probably benign
Transcript: ENSMUST00000219603

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are fertile and show no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,570,479	E343K	possibly damaging	Het
Abcc9	T	C	6: 142,626,037	I1087V	probably benign	Het
Bcam	A	C	7: 19,760,117	Y416*	probably null	Het
Bhlhe22	T	A	3: 18,055,796	C337S	probably damaging	Het
Cerkl	T	C	2: 79,393,020	D119G	probably benign	Het
Cog6	T	C	3: 53,002,404		probably benign	Het
Dchs1	T	C	7: 105,759,105	D1840G	probably damaging	Het
Dhx16	G	T	17: 35,885,504	M521I	probably benign	Het
Dnaja2	A	G	8: 85,546,700	I196T	probably damaging	Het
Fbxw7	T	C	3: 84,904,062	Y165H	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm3371	A	G	14: 44,408,721	Y96H	probably damaging	Het
Gm884	T	A	11: 103,612,933	R560S	probably benign	Het
H2-T10	G	A	17: 36,120,716	A82V	possibly damaging	Het
Hydin	A	G	8: 110,490,718	T1413A	possibly damaging	Het
Krt23	T	A	11: 99,492,839	M76L	possibly damaging	Het
Lipe	A	T	7: 25,383,276	M504K	possibly damaging	Het
Lta4h	T	A	10: 93,471,370		probably benign	Het
Ltbp2	T	C	12: 84,830,748	T348A	probably damaging	Het
Mybpc2	C	A	7: 44,509,898		probably benign	Het
Olfr550	T	C	7: 102,578,527		probably null	Het
Olfr582	T	A	7: 103,042,150	S219T	probably damaging	Het
Pdp2	G	A	8: 104,594,192	M224I	probably benign	Het
Pimreg	C	T	11: 72,044,978		probably benign	Het
Pld1	A	T	3: 28,124,617	S887C	probably damaging	Het
Ppp1r3g	G	A	13: 35,968,995	A133T	possibly damaging	Het
Prpf8	G	A	11: 75,499,992	G1323D	probably damaging	Het
Rpain	A	G	11: 70,970,532	H9R	possibly damaging	Het
Scin	T	C	12: 40,060,491		probably benign	Het
Serpinb6d	A	G	13: 33,671,386	T348A	probably benign	Het
Smad3	A	G	9: 63,757,553	L42P	probably damaging	Het
Smr3a	C	T	5: 88,008,155		probably benign	Het
Vmn2r13	G	A	5: 109,174,219	T204I	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfhx3	A	G	8: 108,933,929	N1272D	probably damaging	Het

Other mutations in Rab3ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Rab3ip	APN	10	116907092	missense	probably benign	0.09
IGL02665:Rab3ip	APN	10	116937548	missense	probably benign	0.02
R1538:Rab3ip	UTSW	10	116939254	missense	probably damaging	1.00
R1565:Rab3ip	UTSW	10	116939223	missense	probably benign	0.09
R1760:Rab3ip	UTSW	10	116937510	missense	probably damaging	1.00
R2077:Rab3ip	UTSW	10	116918960	missense	possibly damaging	0.87
R4441:Rab3ip	UTSW	10	116915932	missense	probably benign	0.19
R5442:Rab3ip	UTSW	10	116918848	missense	probably benign
R5526:Rab3ip	UTSW	10	116918929	missense	possibly damaging	0.61
R5682:Rab3ip	UTSW	10	116907103	nonsense	probably null
R5921:Rab3ip	UTSW	10	116939247	missense	probably damaging	1.00
R6254:Rab3ip	UTSW	10	116915867	missense	probably damaging	1.00
R7021:Rab3ip	UTSW	10	116939378	missense	probably damaging	1.00
R7026:Rab3ip	UTSW	10	116937536	missense	probably benign	0.18
R7326:Rab3ip	UTSW	10	116937633	missense	probably benign	0.07
R7408:Rab3ip	UTSW	10	116937641	missense	possibly damaging	0.62
R7655:Rab3ip	UTSW	10	116914139	missense	probably benign	0.04
R7656:Rab3ip	UTSW	10	116914139	missense	probably benign	0.04
R8363:Rab3ip	UTSW	10	116918964	missense	probably damaging	1.00
R8537:Rab3ip	UTSW	10	116910154	missense	probably damaging	1.00
R9085:Rab3ip	UTSW	10	116939405	missense	probably damaging	1.00
R9086:Rab3ip	UTSW	10	116939405	missense	probably damaging	1.00
R9161:Rab3ip	UTSW	10	116914161	missense	probably damaging	1.00
R9451:Rab3ip	UTSW	10	116939449	start codon destroyed	probably null	0.97
R9563:Rab3ip	UTSW	10	116918763	missense	not run
R9564:Rab3ip	UTSW	10	116915875	missense	not run

Posted On

2014-05-07