Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Rab3ip'

714270

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116741685-116786361 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to T at 116775354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

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
AA Change: M1I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: M1I

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 null
Transcript: ENSMUST00000218391
AA Change: M1I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably null
Transcript: ENSMUST00000219109
AA Change: M1I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably null
Transcript: ENSMUST00000219603
AA Change: M1I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh8a1	T	A	10: 21,265,032 (GRCm39)	S220T	probably benign	Het
Ankrd66	A	G	17: 43,845,811 (GRCm39)	V192A	probably benign	Het
Aoc1l3	A	G	6: 48,965,774 (GRCm39)	Y594C	probably damaging	Het
Atp1a2	A	G	1: 172,103,494 (GRCm39)	Y1009H	probably benign	Het
Bptf	A	C	11: 106,935,411 (GRCm39)	M142R	probably damaging	Het
Brwd1	C	T	16: 95,845,703 (GRCm39)	R740Q	probably damaging	Het
C3	A	G	17: 57,531,169 (GRCm39)	M339T	probably benign	Het
Catsperg1	A	G	7: 28,897,772 (GRCm39)		probably null	Het
Cep295nl	T	A	11: 118,224,446 (GRCm39)	K133*	probably null	Het
Copg2	A	T	6: 30,793,786 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,402 (GRCm39)	D89E	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,765,209 (GRCm39)	R826L	probably damaging	Het
Dlg4	G	T	11: 69,922,065 (GRCm39)	K162N	probably damaging	Het
Dna2	T	A	10: 62,790,072 (GRCm39)	L185H	probably benign	Het
Dock9	C	T	14: 121,787,601 (GRCm39)		probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Etl4	A	G	2: 20,813,926 (GRCm39)	I1322V	probably benign	Het
Exd1	T	C	2: 119,355,064 (GRCm39)	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,462 (GRCm39)	T786A	probably damaging	Het
Gm29106	A	C	1: 118,127,644 (GRCm39)	E445D	possibly damaging	Het
Gm5592	T	C	7: 40,935,876 (GRCm39)	L126P	probably damaging	Het
Grep1	A	G	17: 23,936,187 (GRCm39)	Y19H	unknown	Het
Gtf3c2	T	G	5: 31,325,773 (GRCm39)	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,294,100 (GRCm39)	R669S	probably benign	Het
Hivep1	A	G	13: 42,337,252 (GRCm39)	T2444A	probably benign	Het
Hspg2	A	G	4: 137,238,380 (GRCm39)	E289G	probably damaging	Het
Htatip2	C	A	7: 49,408,987 (GRCm39)	T9K	unknown	Het
Ifngr1	T	C	10: 19,483,041 (GRCm39)	V265A	possibly damaging	Het
Ift140	A	G	17: 25,252,925 (GRCm39)	N359D	probably benign	Het
Mat1a	A	G	14: 40,836,803 (GRCm39)	R178G	probably damaging	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Myh14	C	T	7: 44,273,743 (GRCm39)		probably null	Het
Myof	A	G	19: 37,966,096 (GRCm39)		probably null	Het
Nfe2l1	G	T	11: 96,718,453 (GRCm39)	D27E	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Or4a15	A	T	2: 89,193,243 (GRCm39)	C177S	probably damaging	Het
Or4k51	T	C	2: 111,585,218 (GRCm39)	V208A	probably benign	Het
Or5p61	A	G	7: 107,758,468 (GRCm39)	V204A	probably benign	Het
Or8s5	A	G	15: 98,238,144 (GRCm39)	V242A	possibly damaging	Het
Plec	C	A	15: 76,067,987 (GRCm39)	Q1139H	unknown	Het
Plxna2	T	A	1: 194,326,692 (GRCm39)	S209T	probably benign	Het
Plxnd1	T	C	6: 115,940,277 (GRCm39)	E1369G	possibly damaging	Het
Psd3	T	C	8: 68,363,487 (GRCm39)	I3V	unknown	Het
Pwp1	T	A	10: 85,714,428 (GRCm39)	F195L	probably damaging	Het
Rad54l2	T	C	9: 106,585,488 (GRCm39)	K759R	probably benign	Het
Rims2	G	T	15: 39,300,724 (GRCm39)	V344L	probably damaging	Het
Robo1	G	A	16: 72,803,718 (GRCm39)	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,282,745 (GRCm39)		probably benign	Het
Serhl	A	C	15: 82,987,167 (GRCm39)	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,075,392 (GRCm39)		probably null	Het
Slc27a1	T	A	8: 72,032,808 (GRCm39)	Y248*	probably null	Het
Slitrk3	T	A	3: 72,958,616 (GRCm39)	E52V	possibly damaging	Het
Snx2	T	C	18: 53,343,415 (GRCm39)	V271A	probably benign	Het
Snx9	C	A	17: 5,949,768 (GRCm39)	P156Q	probably damaging	Het
Spag6	C	A	2: 18,715,369 (GRCm39)	Y71*	probably null	Het
Speer4a3	T	A	5: 26,156,569 (GRCm39)	K137*	probably null	Het
Speg	A	G	1: 75,394,377 (GRCm39)	D1724G	probably damaging	Het
Syt7	A	G	19: 10,421,532 (GRCm39)	N572S	probably damaging	Het
Thoc2l	C	A	5: 104,668,644 (GRCm39)	S1055R	probably benign	Het
Ticam2	A	G	18: 46,693,766 (GRCm39)	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,488,256 (GRCm39)	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663 (GRCm39)	T519A	possibly damaging	Het
Trim43b	G	A	9: 88,973,608 (GRCm39)	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,852,089 (GRCm39)	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,158 (GRCm39)	D97G	probably benign	Het
Uncx	A	G	5: 139,532,475 (GRCm39)	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Vmn2r51	A	T	7: 9,833,816 (GRCm39)	H407Q	probably damaging	Het
Wdfy4	C	T	14: 32,855,518 (GRCm39)	E699K		Het
Wdr95	A	G	5: 149,504,165 (GRCm39)	T324A	probably benign	Het

Other mutations in Rab3ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Rab3ip	APN	10	116,742,997 (GRCm39)	missense	probably benign	0.09
IGL01946:Rab3ip	APN	10	116,773,300 (GRCm39)	critical splice donor site	probably null
IGL02665:Rab3ip	APN	10	116,773,453 (GRCm39)	missense	probably benign	0.02
R1538:Rab3ip	UTSW	10	116,775,159 (GRCm39)	missense	probably damaging	1.00
R1565:Rab3ip	UTSW	10	116,775,128 (GRCm39)	missense	probably benign	0.09
R1760:Rab3ip	UTSW	10	116,773,415 (GRCm39)	missense	probably damaging	1.00
R2077:Rab3ip	UTSW	10	116,754,865 (GRCm39)	missense	possibly damaging	0.87
R4441:Rab3ip	UTSW	10	116,751,837 (GRCm39)	missense	probably benign	0.19
R5442:Rab3ip	UTSW	10	116,754,753 (GRCm39)	missense	probably benign
R5526:Rab3ip	UTSW	10	116,754,834 (GRCm39)	missense	possibly damaging	0.61
R5682:Rab3ip	UTSW	10	116,743,008 (GRCm39)	nonsense	probably null
R5921:Rab3ip	UTSW	10	116,775,152 (GRCm39)	missense	probably damaging	1.00
R6254:Rab3ip	UTSW	10	116,751,772 (GRCm39)	missense	probably damaging	1.00
R7021:Rab3ip	UTSW	10	116,775,283 (GRCm39)	missense	probably damaging	1.00
R7026:Rab3ip	UTSW	10	116,773,441 (GRCm39)	missense	probably benign	0.18
R7326:Rab3ip	UTSW	10	116,773,538 (GRCm39)	missense	probably benign	0.07
R7408:Rab3ip	UTSW	10	116,773,546 (GRCm39)	missense	possibly damaging	0.62
R7655:Rab3ip	UTSW	10	116,750,044 (GRCm39)	missense	probably benign	0.04
R7656:Rab3ip	UTSW	10	116,750,044 (GRCm39)	missense	probably benign	0.04
R8363:Rab3ip	UTSW	10	116,754,869 (GRCm39)	missense	probably damaging	1.00
R8537:Rab3ip	UTSW	10	116,746,059 (GRCm39)	missense	probably damaging	1.00
R9085:Rab3ip	UTSW	10	116,775,310 (GRCm39)	missense	probably damaging	1.00
R9086:Rab3ip	UTSW	10	116,775,310 (GRCm39)	missense	probably damaging	1.00
R9161:Rab3ip	UTSW	10	116,750,066 (GRCm39)	missense	probably damaging	1.00
R9563:Rab3ip	UTSW	10	116,754,668 (GRCm39)	missense	probably null	1.00
R9564:Rab3ip	UTSW	10	116,751,780 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGAAAGATCTAAGGCATTGGC -3'
(R):5'- CCGACTGAGACAACATTTCTGC -3'

Sequencing Primer
(F):5'- GCATTGGCCTGGAGAGG -3'
(R):5'- GACTGAGACAACATTTCTGCATTTCC -3'

Posted On

2022-06-15