Mutagenetix > Incidental Mutation

Incidental Mutation 'R2077:Rab3ip'

229223

Institutional Source

Beutler Lab

Gene Symbol

Rab3ip

Ensembl Gene

ENSMUSG00000064181

Gene Name

RAB3A interacting protein

Synonyms

Rabin3, Gtpat12, SSX2 interacting protein

MMRRC Submission

040082-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2077 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

116905784-116950769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116918960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

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: D198E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: D198E

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

possibly damaging
Transcript: ENSMUST00000219109
AA Change: D230E

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219570

Meta Mutation Damage Score

0.1566

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,457,034		probably benign	Het
Abhd16b	A	C	2: 181,493,416	D37A	probably benign	Het
Acp7	T	C	7: 28,629,482	E91G	probably damaging	Het
Alms1	T	A	6: 85,622,309	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,460,008	D620V	probably damaging	Het
Caps2	C	T	10: 112,199,727	T371I	possibly damaging	Het
Ccdc175	A	G	12: 72,140,020	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,299,196	L1434P	probably damaging	Het
Cdkl3	A	T	11: 52,026,839	E321V	probably damaging	Het
Clec2d	G	T	6: 129,183,190	V56L	possibly damaging	Het
Cops3	A	T	11: 59,824,310	S301T	possibly damaging	Het
Crygd	T	C	1: 65,063,246	D19G	probably damaging	Het
Dnah2	T	C	11: 69,496,606	I931M	possibly damaging	Het
Dst	A	T	1: 34,211,170	R4068S	probably damaging	Het
Fas	C	T	19: 34,320,553		probably benign	Het
G6pd2	T	A	5: 61,810,251	D456E	probably damaging	Het
Galnt18	G	A	7: 111,554,602	R272W	probably damaging	Het
Grb2	C	A	11: 115,645,825	G200W	probably damaging	Het
Herc4	A	G	10: 63,264,053	N85S	probably benign	Het
Ighv7-2	T	C	12: 113,912,107	D92G	probably damaging	Het
Itih3	A	G	14: 30,909,835	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,363,120	N247D	probably benign	Het
Kcnd3	T	C	3: 105,666,999	V500A	probably benign	Het
Lrp2	C	T	2: 69,507,843	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,761,987	T22A	probably damaging	Het
Mdga2	A	G	12: 66,655,362	V355A	probably damaging	Het
Megf8	T	A	7: 25,353,738	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,944,966	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,963,992	C534R	probably benign	Het
Nup155	A	G	15: 8,143,026	E832G	probably damaging	Het
Olfr1131	A	G	2: 87,628,829	Y122C	probably damaging	Het
Plcl2	A	G	17: 50,606,829	T289A	probably benign	Het
Ptprs	C	T	17: 56,434,990	R7Q	probably null	Het
Scaf4	A	T	16: 90,252,435	F255I	unknown	Het
Senp6	T	C	9: 80,126,155	S475P	probably benign	Het
Shpk	T	C	11: 73,203,959	L67P	probably damaging	Het
Sik3	T	A	9: 46,219,503	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,353,724	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,700,566	V23A	probably benign	Het
Slit3	A	T	11: 35,544,748	I169F	possibly damaging	Het
Stxbp5l	A	G	16: 37,236,275	V379A	possibly damaging	Het
Tex2	T	C	11: 106,506,864		probably null	Het
Tnpo3	A	G	6: 29,586,144	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,790,390	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,815,399	C562S	probably damaging	Het
Wipi1	T	C	11: 109,577,664	N368S	probably benign	Het
Zbtb41	T	C	1: 139,424,093	S315P	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
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	probably null	1.00
R9564:Rab3ip	UTSW	10	116915875	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-09-17