Mutagenetix > Incidental Mutation

Incidental Mutation 'R0324:Rab3il1'

26400

Institutional Source

Beutler Lab

Gene Symbol

Rab3il1

Ensembl Gene

ENSMUSG00000024663

Gene Name

RAB3A interacting protein (rabin3)-like 1

Synonyms

1200014K04Rik, Rab3ail1

MMRRC Submission

038534-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9979033-10015744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10005653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 149 (D149G)

Ref Sequence

ENSEMBL: ENSMUSP00000121449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113161] [ENSMUST00000117641] [ENSMUST00000121418] [ENSMUST00000131407] [ENSMUST00000137637] [ENSMUST00000144788] [ENSMUST00000149967]

AlphaFold

Q8VDV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000113161
AA Change: D149G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: D149G

Domain	Start	End	E-Value	Type
Pfam:Sec2p	90	173	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117641

SMART Domains

Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663

Domain	Start	End	E-Value	Type
Pfam:Sec2p	89	158	1.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121418
AA Change: D80G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: D80G

Domain	Start	End	E-Value	Type
Pfam:Sec2p	20	129	4.3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129882

Predicted Effect

probably damaging
Transcript: ENSMUST00000131407
AA Change: D80G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115976
Gene: ENSMUSG00000024663
AA Change: D80G

Domain	Start	End	E-Value	Type
Pfam:Sec2p	20	86	7.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137637

SMART Domains

Protein: ENSMUSP00000120366
Gene: ENSMUSG00000024663

Domain	Start	End	E-Value	Type
Pfam:Sec2p	20	58	5.9e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144788
AA Change: D149G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: D149G

Domain	Start	End	E-Value	Type
Pfam:Sec2p	89	198	4.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149967

SMART Domains

Protein: ENSMUSP00000120401
Gene: ENSMUSG00000024663

Domain	Start	End	E-Value	Type
Pfam:Sec2p	20	51	3.2e-11	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,219,989 (GRCm39)	L357S	probably benign	Het
1700129C05Rik	C	T	14: 59,380,256 (GRCm39)	R14H	probably damaging	Het
Aatf	A	G	11: 84,402,965 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,247,669 (GRCm39)	M2472K	possibly damaging	Het
Abcd3	C	A	3: 121,562,816 (GRCm39)	Q540H	probably null	Het
Adam17	C	T	12: 21,399,939 (GRCm39)	V156I	probably benign	Het
Adam26a	A	G	8: 44,021,490 (GRCm39)	S667P	probably benign	Het
Adcy10	A	G	1: 165,391,818 (GRCm39)	K1333E	probably benign	Het
Apob	G	A	12: 8,060,521 (GRCm39)	R2968Q	probably benign	Het
Arap3	G	A	18: 38,106,278 (GRCm39)	P1522S	possibly damaging	Het
Catsper1	A	T	19: 5,386,573 (GRCm39)	S269C	probably damaging	Het
Cd209d	A	T	8: 3,928,258 (GRCm39)	S42R	probably benign	Het
Cntln	T	A	4: 85,010,932 (GRCm39)	V1049E	probably damaging	Het
Cracr2b	T	C	7: 141,043,659 (GRCm39)	F87L	probably damaging	Het
Crb3	T	C	17: 57,372,133 (GRCm39)	L60P	probably damaging	Het
Crispld1	T	C	1: 17,819,815 (GRCm39)	V271A	probably benign	Het
Cyp2c66	G	T	19: 39,165,135 (GRCm39)	R372L	probably benign	Het
Deup1	G	A	9: 15,493,829 (GRCm39)	R438W	probably benign	Het
Dnah6	C	T	6: 73,150,541 (GRCm39)	E741K	possibly damaging	Het
Epha4	T	C	1: 77,360,188 (GRCm39)	E703G	probably damaging	Het
Evc2	G	A	5: 37,550,443 (GRCm39)	R819H	probably damaging	Het
Fam217a	A	C	13: 35,094,944 (GRCm39)	C272G	possibly damaging	Het
Fndc7	T	C	3: 108,784,015 (GRCm39)		probably null	Het
Foxs1	C	T	2: 152,774,607 (GRCm39)	G149S	probably benign	Het
Galnt13	T	C	2: 54,744,628 (GRCm39)	V109A	probably benign	Het
Hmgxb4	G	A	8: 75,725,556 (GRCm39)	M7I	probably benign	Het
Klk1b1	T	A	7: 43,620,165 (GRCm39)	C209*	probably null	Het
Klra10	A	G	6: 130,249,613 (GRCm39)		probably null	Het
Kntc1	A	T	5: 123,916,175 (GRCm39)	K701N	probably damaging	Het
Lpgat1	T	A	1: 191,481,754 (GRCm39)	L114Q	probably damaging	Het
Mecom	T	A	3: 30,017,261 (GRCm39)	Q468L	probably damaging	Het
Med15	T	C	16: 17,515,476 (GRCm39)	T70A	probably damaging	Het
Msh6	T	A	17: 88,294,048 (GRCm39)	Y934*	probably null	Het
Mtus1	T	C	8: 41,537,432 (GRCm39)	T95A	probably benign	Het
Mylk3	C	A	8: 86,079,535 (GRCm39)	R444S	probably damaging	Het
Nbea	A	G	3: 55,965,369 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,332,032 (GRCm39)	V2242A	probably damaging	Het
Nhp2	A	G	11: 51,513,334 (GRCm39)	T85A	possibly damaging	Het
Nlk	A	G	11: 78,463,257 (GRCm39)	S413P	possibly damaging	Het
Nmbr	A	G	10: 14,636,192 (GRCm39)	I54V	possibly damaging	Het
Nmur2	A	T	11: 55,931,346 (GRCm39)	C122S	probably damaging	Het
Nudt13	G	T	14: 20,361,583 (GRCm39)	V220L	probably damaging	Het
Or5m13	G	A	2: 85,748,295 (GRCm39)	V9M	probably benign	Het
Pclo	G	A	5: 14,719,447 (GRCm39)	G1195R	unknown	Het
Pcsk7	A	G	9: 45,824,309 (GRCm39)	H276R	possibly damaging	Het
Pdss2	T	C	10: 43,269,924 (GRCm39)	S256P	probably damaging	Het
Pgf	G	T	12: 85,218,198 (GRCm39)	H116N	probably benign	Het
Pglyrp2	T	C	17: 32,637,302 (GRCm39)	D242G	probably benign	Het
Plk2	G	A	13: 110,534,242 (GRCm39)	R274K	probably benign	Het
Ppp6r3	G	T	19: 3,514,693 (GRCm39)	P141T	probably benign	Het
Prss54	T	C	8: 96,292,295 (GRCm39)	T95A	probably benign	Het
Rasgef1c	T	C	11: 49,852,057 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,583,437 (GRCm39)	M334T	probably damaging	Het
Rigi	T	C	4: 40,213,766 (GRCm39)	T586A	probably benign	Het
Robo2	C	T	16: 73,764,739 (GRCm39)	V630M	probably damaging	Het
Rptor	C	T	11: 119,783,467 (GRCm39)	R1154W	probably damaging	Het
Scnn1g	A	G	7: 121,339,778 (GRCm39)	I192M	possibly damaging	Het
Sit1	G	A	4: 43,482,815 (GRCm39)	Q115*	probably null	Het
Slc13a2	T	C	11: 78,295,350 (GRCm39)	N141S	probably damaging	Het
Slc19a2	C	A	1: 164,084,344 (GRCm39)	T78K	probably damaging	Het
Snx14	A	G	9: 88,287,291 (GRCm39)		probably null	Het
Stil	T	A	4: 114,896,346 (GRCm39)	C944S	probably benign	Het
Tex56	A	G	13: 35,108,596 (GRCm39)	N26S	probably benign	Het
Tnfaip2	A	G	12: 111,419,893 (GRCm39)	N675S	probably damaging	Het
Trim30c	A	G	7: 104,032,516 (GRCm39)	I270T	possibly damaging	Het
Ugt2a3	C	T	5: 87,474,932 (GRCm39)		probably null	Het
Vmn1r213	A	T	13: 23,195,588 (GRCm39)		probably benign	Het
Vmn2r8	A	C	5: 108,945,807 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,871,591 (GRCm39)	F3253L	possibly damaging	Het
Zbtb16	G	T	9: 48,576,575 (GRCm39)	Q502K	possibly damaging	Het
Zfp143	A	G	7: 109,676,354 (GRCm39)	K218E	possibly damaging	Het
Zfp946	A	G	17: 22,673,417 (GRCm39)	N57S	probably benign	Het
Zfp985	T	C	4: 147,667,314 (GRCm39)	Y61H	probably benign	Het
Zkscan1	G	A	5: 138,095,785 (GRCm39)	R246Q	probably damaging	Het
Zpld1	A	G	16: 55,071,978 (GRCm39)	F94L	probably damaging	Het
Zswim5	G	T	4: 116,844,103 (GRCm39)	W1047L	probably damaging	Het

Other mutations in Rab3il1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4737:Rab3il1	UTSW	19	10,011,115 (GRCm39)	missense	probably damaging	1.00
R0613:Rab3il1	UTSW	19	10,005,728 (GRCm39)	missense	probably damaging	1.00
R0648:Rab3il1	UTSW	19	10,004,752 (GRCm39)	small insertion	probably benign
R3752:Rab3il1	UTSW	19	10,007,841 (GRCm39)	missense	probably benign	0.05
R3765:Rab3il1	UTSW	19	10,005,673 (GRCm39)	missense	probably damaging	1.00
R4062:Rab3il1	UTSW	19	10,003,988 (GRCm39)	missense	probably benign
R4245:Rab3il1	UTSW	19	10,007,518 (GRCm39)	missense	probably damaging	1.00
R4803:Rab3il1	UTSW	19	10,004,808 (GRCm39)	missense	possibly damaging	0.78
R4820:Rab3il1	UTSW	19	10,004,034 (GRCm39)	missense	probably benign	0.01
R7744:Rab3il1	UTSW	19	10,005,641 (GRCm39)	splice site	probably null
R8047:Rab3il1	UTSW	19	10,011,166 (GRCm39)	missense	probably benign	0.03
R8154:Rab3il1	UTSW	19	10,004,936 (GRCm39)	missense	possibly damaging	0.83
R8812:Rab3il1	UTSW	19	10,004,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCATGTCTCCTGTCAGCCTTG -3'
(R):5'- TTGTGAGCCCACTATTGCAGCC -3'

Sequencing Primer
(F):5'- ctgtcagccttgggtgc -3'
(R):5'- ACTATTGCAGCCTGTGCC -3'

Posted On

2013-04-16