Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Rab3ip'

574860

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 #

R7408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116905784-116950769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116937641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 89 (D89G)

Ref Sequence

ENSEMBL: ENSMUSP00000151708 (fasta)

Gene Model

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

AlphaFold

Q68EF0

Predicted Effect

probably benign
Transcript: ENSMUST00000020375
AA Change: D89G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: D89G

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

possibly damaging
Transcript: ENSMUST00000219109
AA Change: D89G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000219603
AA Change: D89G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,882,309	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,245,924	E72D	probably benign	Het
Arid1a	G	T	4: 133,681,080	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,195	H96P	probably damaging	Het
Cast	A	G	13: 74,739,841	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,808,178	C320S	probably damaging	Het
Cgn	T	A	3: 94,763,055	K1031*	probably null	Het
Cnot10	T	C	9: 114,631,826	N92S	probably benign	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,083,193	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,689,834	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,852,172		probably null	Het
Dtnb	T	A	12: 3,644,272		probably null	Het
Entpd1	A	G	19: 40,738,865	N486D	possibly damaging	Het
Fes	G	A	7: 80,378,662	R736C	probably damaging	Het
Galr1	T	G	18: 82,393,865	Y292S	probably damaging	Het
Gda	T	A	19: 21,428,624	D80V	probably damaging	Het
Ghr	A	G	15: 3,347,572	C56R	probably benign	Het
Golgb1	A	G	16: 36,898,547	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,332,993	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,804,466	S43P	probably benign	Het
Gsdmd	A	G	15: 75,866,353	E295G	probably damaging	Het
Htatip2	A	G	7: 49,759,786	K96R	probably benign	Het
Insm1	T	A	2: 146,222,791	F176I	probably benign	Het
Itih1	T	C	14: 30,943,160	E36G	probably benign	Het
Jak1	A	G	4: 101,175,182	V409A	probably damaging	Het
Knl1	A	G	2: 119,070,592	I925V	possibly damaging	Het
Lcmt2	A	G	2: 121,138,704	S413P	probably benign	Het
Lmo7	T	C	14: 101,880,953	S205P	probably damaging	Het
Lrch3	C	A	16: 32,986,743	S462*	probably null	Het
Lrrtm2	T	C	18: 35,213,635	I205V	possibly damaging	Het
Mark3	T	G	12: 111,633,789	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,965,812	G39D	possibly damaging	Het
Msh4	A	G	3: 153,876,745	Y497H	probably benign	Het
Msl2	T	A	9: 101,102,117	D563E	probably benign	Het
Mta1	G	A	12: 113,131,468		probably null	Het
Nalcn	T	A	14: 123,291,860	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,695,793	L867P	probably benign	Het
Nkapl	T	C	13: 21,467,843	D200G	unknown	Het
Nos1	A	C	5: 117,867,518	E101A	probably damaging	Het
Npat	T	C	9: 53,569,916	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,853,082	I358T	probably benign	Het
Olfr1270	T	A	2: 90,149,844	H54L	probably benign	Het
Olfr1342	C	T	4: 118,689,662	M263I	probably damaging	Het
Olfr715b	A	G	7: 107,106,067	S265P	probably benign	Het
Olfr745	A	G	14: 50,642,395	E32G	probably benign	Het
Olfr794	A	G	10: 129,570,624		probably benign	Het
Pex1	A	G	5: 3,630,222	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,028,479	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,261,673	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,311,766	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,937,984	M109K	probably benign	Het
Plekhn1	T	C	4: 156,233,961	N68S	probably benign	Het
Pramel7	T	A	2: 87,490,845	D282V	possibly damaging	Het
Pxdn	T	C	12: 29,990,945	Y407H	probably benign	Het
Rad17	G	A	13: 100,629,511	Q370*	probably null	Het
Robo4	T	C	9: 37,410,981	C751R	probably benign	Het
Sez6	A	G	11: 77,953,530	T60A	probably damaging	Het
Socs4	A	G	14: 47,289,839	H77R	probably benign	Het
Srrm3	T	A	5: 135,852,206	M120K	probably benign	Het
Steap4	A	T	5: 7,978,453	I344F	probably benign	Het
Stk36	T	A	1: 74,633,566	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108	Q667L	probably benign	Het
Tspan17	T	C	13: 54,789,653	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,661,359	Q65*	probably null	Het
Ush2a	A	T	1: 188,733,529	I2765F	probably benign	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdfy4	A	G	14: 33,078,307	V1954A		Het
Xrn2	T	A	2: 147,042,097		probably null	Het
Zfp687	C	T	3: 95,007,530	R1220H	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
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

Predicted Primers

PCR Primer
(F):5'- CAGAACAGATGGGCTTCGTAAAC -3'
(R):5'- AACCCCGTCCGTATGAAGTAG -3'

Sequencing Primer
(F):5'- TTCGTAAACGCGACAGGCTATC -3'
(R):5'- CCCGTCCGTATGAAGTAGTGTGTAG -3'

Posted On

2019-10-07