Mutagenetix > Incidental Mutation

Incidental Mutation 'R8363:Rab3ip'

646060

Institutional Source

Beutler Lab

Gene Symbol

Rab3ip

Ensembl Gene

ENSMUSG00000064181

Gene Name

RAB3A interacting protein

Synonyms

Rabin3, Gtpat12, SSX2 interacting protein

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8363 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116905784-116950769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116918964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 229 (I229S)

Ref Sequence

ENSEMBL: ENSMUSP00000151708 (fasta)

Gene Model

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

AlphaFold

Q68EF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020375
AA Change: I197S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: I197S

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 damaging
Transcript: ENSMUST00000219109
AA Change: I229S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,170	I375L		Het
Adamts18	C	T	8: 113,767,163	G448D	probably damaging	Het
Bzw2	A	G	12: 36,130,123	V35A	probably benign	Het
C2cd4d	C	T	3: 94,363,850	T141M	probably benign	Het
Cbwd1	A	T	19: 24,942,727	H175Q	probably benign	Het
Chchd4	T	A	6: 91,467,755	K17*	probably null	Het
Cmas	C	T	6: 142,756,828	P19L	probably benign	Het
Colec10	A	G	15: 54,410,842	H22R	probably benign	Het
D630045J12Rik	T	C	6: 38,148,441	D1546G	probably damaging	Het
Dgki	A	T	6: 37,016,678	C583S	probably damaging	Het
Dhrs13	G	T	11: 78,034,517	V205L	probably damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Erc1	T	C	6: 119,753,299	D612G	probably benign	Het
Fam163b	G	A	2: 27,112,638	R116C	probably benign	Het
Gm5160	T	C	18: 14,424,872	V2A	possibly damaging	Het
Gm8247	A	T	14: 44,586,462	I202F		Het
Gm8994	T	G	6: 136,329,455	S305A	probably benign	Het
Gnpat	T	C	8: 124,863,299	V21A	probably benign	Het
Igfn1	A	T	1: 135,963,887	S2297T	probably benign	Het
Igkv13-85	A	G	6: 68,930,285	Y111H	probably damaging	Het
Il17rd	A	G	14: 27,091,949	N206D	probably damaging	Het
Il1r2	G	A	1: 40,120,935	V272M	probably damaging	Het
Ivl	T	A	3: 92,572,218	H180L	possibly damaging	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Kirrel2	A	G	7: 30,453,543	V350A	probably damaging	Het
Marc2	A	G	1: 184,833,858		probably null	Het
Mcpt4	A	G	14: 56,062,235	S14P	probably damaging	Het
Mdm2	A	G	10: 117,690,334	V449A	probably damaging	Het
Mga	T	C	2: 119,963,926	V2697A	probably benign	Het
Mlxipl	T	C	5: 135,107,076	F52L	probably benign	Het
Ndst3	T	C	3: 123,556,868	S623G	possibly damaging	Het
Oas1a	C	T	5: 120,905,839	A77T	probably damaging	Het
Olfr459	T	C	6: 41,771,750	Q183R	probably benign	Het
Olfr464	A	T	11: 87,914,243	I221N	probably damaging	Het
P3h2	A	G	16: 25,992,718	F252L	probably damaging	Het
Psme4	A	G	11: 30,812,139	D493G	probably damaging	Het
Ralgapb	T	C	2: 158,426,199	L74P	probably damaging	Het
Scn1a	G	T	2: 66,322,257	N804K	probably damaging	Het
Slc22a6	A	T	19: 8,619,022	H124L	probably benign	Het
Slc6a6	A	G	6: 91,750,296	I492V	probably benign	Het
Snx2	G	T	18: 53,197,864	E134*	probably null	Het
Stt3b	A	G	9: 115,254,920	I396T	probably damaging	Het
Tcp11	A	G	17: 28,069,247	S415P	possibly damaging	Het
Vmn2r67	A	T	7: 85,155,761	S48T	probably benign	Het
Vps16	T	A	2: 130,442,241	F665L	probably benign	Het
Wdhd1	A	T	14: 47,276,532	D22E	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
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
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
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

Predicted Primers

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

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

Posted On

2020-09-02