Mutagenetix > Incidental Mutation

Incidental Mutation 'R5526:Rab3ip'

431865

Institutional Source

Beutler Lab

Gene Symbol

Rab3ip

Ensembl Gene

ENSMUSG00000064181

Gene Name

RAB3A interacting protein

Synonyms

Rabin3, Gtpat12, SSX2 interacting protein

MMRRC Submission

043084-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5526 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

116905784-116950769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116918929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 209 (T209A)

Ref Sequence

ENSEMBL: ENSMUSP00000020375 (fasta)

Gene Model

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

AlphaFold

Q68EF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020375
AA Change: T209A

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: T209A

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: ENSMUST00000219109
AA Change: T241A

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219570

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,125	V486A	possibly damaging	Het
Abca12	A	T	1: 71,292,446	M1315K	probably benign	Het
Abcc4	C	T	14: 118,631,037	V168I	probably benign	Het
Add3	T	A	19: 53,226,607	L71Q	probably damaging	Het
Agbl5	G	A	5: 30,893,903		probably null	Het
Angpt1	A	G	15: 42,512,341	L173P	probably damaging	Het
BC067074	T	C	13: 113,367,893	V1852A	probably benign	Het
Crls1	T	A	2: 132,861,245	M205K	possibly damaging	Het
Dhtkd1	A	T	2: 5,911,851	N671K	probably damaging	Het
Dmbt1	A	T	7: 131,041,190	D246V	probably damaging	Het
Dolk	G	A	2: 30,285,808	A75V	probably damaging	Het
Dtna	T	A	18: 23,646,230	V623E	probably damaging	Het
Elavl3	T	C	9: 22,036,326	T106A	probably benign	Het
Ergic1	T	C	17: 26,624,678	C41R	probably damaging	Het
Fat2	T	A	11: 55,269,361	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,365,639	R978L	possibly damaging	Het
Fzd6	A	T	15: 39,031,164	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,472,970	H87L	probably benign	Het
Gatad2a	T	C	8: 69,935,941	E32G	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm11541	G	T	11: 94,704,118	H41Q	unknown	Het
Has3	A	G	8: 106,873,947	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,580,444	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,733,727	N428S	probably benign	Het
Lipo5	A	T	19: 33,467,884	V95D	unknown	Het
Lrp1	A	T	10: 127,555,724	V2942D	probably benign	Het
Map1a	T	C	2: 121,305,662	S2082P	probably damaging	Het
Mast4	T	C	13: 102,754,215	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,269,373	L13*	probably null	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nlrp9c	T	A	7: 26,382,366	N645I	possibly damaging	Het
Olfr109	T	A	17: 37,467,112	L302Q	unknown	Het
Olfr1126	T	C	2: 87,457,765	I200T	probably benign	Het
Olfr128	T	A	17: 37,924,492	*309K	probably null	Het
Olfr857	C	A	9: 19,713,698	Y290*	probably null	Het
Olfr965	A	T	9: 39,719,596	Y123F	possibly damaging	Het
Pex12	A	G	11: 83,296,264	V286A	possibly damaging	Het
Phax	C	T	18: 56,584,310	T275I	probably damaging	Het
Phf21b	A	G	15: 84,791,805	V335A	probably benign	Het
Psg18	A	T	7: 18,349,348	L173H	probably damaging	Het
Ralgapb	T	C	2: 158,432,785	V202A	probably damaging	Het
Rpn2	T	C	2: 157,323,267	L611P	probably damaging	Het
Runx2	T	G	17: 44,724,862	T148P	probably damaging	Het
Sbpl	C	A	17: 23,954,649	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,521,171	P879L	probably damaging	Het
Sfn	T	C	4: 133,601,604	R56G	probably damaging	Het
Tas2r138	C	T	6: 40,612,980	A111T	probably benign	Het
Tasp1	A	T	2: 140,008,789	S105T	probably damaging	Het
Tmem225	T	G	9: 40,150,706	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,660,904	S640P	probably damaging	Het
Utp4	G	A	8: 106,917,633	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,103	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,872,645	L9P	probably benign	Het
Zcchc2	T	A	1: 106,030,254	C420*	probably null	Het
Zfp804a	A	G	2: 82,258,590	D921G	probably benign	Het

Other mutations in Rab3ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Rab3ip	APN	10	116907092	missense	probably benign	0.09
IGL01946:Rab3ip	APN	10	116937395	critical splice donor site	probably null
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
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	probably null	1.00
R9564:Rab3ip	UTSW	10	116915875	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTCTCTGCAGGAGTTAC -3'
(R):5'- TGGTAGTTGAATCCAATCCATATGG -3'

Sequencing Primer
(F):5'- GGAGTTACCTCTTTGCAGTCTTTTAC -3'
(R):5'- CAAAAATCTTGGATTGCTTTCCC -3'

Posted On

2016-10-05