Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Rab3il1'

54919

Institutional Source

Beutler Lab

Gene Symbol

Rab3il1

Ensembl Gene

ENSMUSG00000024663

Gene Name

RAB3A interacting protein (rabin3)-like 1

Synonyms

1200014K04Rik, Rab3ail1

MMRRC Submission

038802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9979033-10015744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10005728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 174 (L174P)

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: L174P

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

SMART Domains

Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: L174P

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: L105P

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

SMART Domains

Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: L105P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129882

Predicted Effect

probably benign
Transcript: ENSMUST00000131407

SMART Domains

Protein: ENSMUSP00000115976
Gene: ENSMUSG00000024663

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: L174P

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

SMART Domains

Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: L174P

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

Meta Mutation Damage Score

0.1104

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 106,427,200 (GRCm39)		probably null	Het
Adcy9	A	G	16: 4,237,403 (GRCm39)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,248,859 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,004 (GRCm39)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,596,979 (GRCm39)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,611,978 (GRCm39)	I384N	probably damaging	Het
Brca1	A	T	11: 101,399,036 (GRCm39)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,399,850 (GRCm39)	V94A	probably benign	Het
Cep170	T	C	1: 176,602,246 (GRCm39)	T287A	probably benign	Het
Ces1a	A	G	8: 93,752,209 (GRCm39)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,906,228 (GRCm39)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,687,496 (GRCm39)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 95,990,316 (GRCm39)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,019,061 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,102,383 (GRCm39)		probably benign	Het
Entrep1	T	A	19: 23,963,853 (GRCm39)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,848,347 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,824,139 (GRCm39)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,068,297 (GRCm39)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,545,174 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,848,221 (GRCm39)		probably null	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,737,721 (GRCm39)	N293K	probably damaging	Het
Hps6	C	A	19: 45,992,260 (GRCm39)	P66T	probably benign	Het
Hspa9	A	T	18: 35,081,033 (GRCm39)	V216E	probably damaging	Het
Igsf8	T	A	1: 172,145,156 (GRCm39)	M224K	probably benign	Het
Igsf9b	T	C	9: 27,238,216 (GRCm39)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,884,168 (GRCm39)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,696,603 (GRCm39)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,465,458 (GRCm39)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,739,184 (GRCm39)		probably benign	Het
Map1b	T	A	13: 99,578,149 (GRCm39)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,697,855 (GRCm39)		probably benign	Het
Mgst1	G	A	6: 138,133,243 (GRCm39)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,299,630 (GRCm39)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,610,503 (GRCm39)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 31,898,509 (GRCm39)	L443Q	probably damaging	Het
Nelfa	G	A	5: 34,060,807 (GRCm39)		probably benign	Het
Nepn	T	A	10: 52,277,353 (GRCm39)	L363Q	probably damaging	Het
Nfat5	A	G	8: 108,092,927 (GRCm39)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,041,211 (GRCm39)	V328E	probably benign	Het
Or11h4b	T	A	14: 50,918,861 (GRCm39)	I77F	probably benign	Het
Or2y1e	T	A	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or4c122	A	T	2: 89,079,469 (GRCm39)	C178S	probably damaging	Het
Or4d2b	A	T	11: 87,780,053 (GRCm39)	V223E	possibly damaging	Het
Or6c76	T	A	10: 129,612,131 (GRCm39)	M116K	probably damaging	Het
Or8d2	T	A	9: 38,759,909 (GRCm39)	C166*	probably null	Het
Otogl	A	T	10: 107,652,931 (GRCm39)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,680,465 (GRCm39)	Y236*	probably null	Het
Prelid1	C	T	13: 55,472,156 (GRCm39)	R111*	probably null	Het
Prpf8	T	C	11: 75,394,270 (GRCm39)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,138,230 (GRCm39)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,138,283 (GRCm39)	T396A	possibly damaging	Het
Rab4a	T	C	8: 124,550,574 (GRCm39)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,302,628 (GRCm39)	M1273L	possibly damaging	Het
Sdhc	A	T	1: 170,957,413 (GRCm39)	V156E	probably benign	Het
Slco3a1	T	C	7: 73,996,382 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,924,371 (GRCm39)	T343A	probably benign	Het
Syt11	A	G	3: 88,669,776 (GRCm39)	C39R	probably damaging	Het
Tll2	G	T	19: 41,093,429 (GRCm39)	D462E	probably damaging	Het
Tmem132e	T	A	11: 82,329,164 (GRCm39)	V481D	probably damaging	Het
Tmem161b	C	T	13: 84,399,439 (GRCm39)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,428,578 (GRCm39)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,213,140 (GRCm39)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 52,994,784 (GRCm39)	D238E	probably damaging	Het
Zfp112	G	A	7: 23,826,453 (GRCm39)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,830,946 (GRCm39)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,791,544 (GRCm39)	E39G	probably benign	Het
Zfp865	A	G	7: 5,032,090 (GRCm39)	H25R	possibly 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
R0324:Rab3il1	UTSW	19	10,005,653 (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'- agaggttgttccaagggtaag -3'
(R):5'- ACTATTGCAGCCTGTGCC -3'

Posted On

2013-07-11