Mutagenetix > Incidental Mutation

Incidental Mutation 'R8154:Rab3il1'

633231

Institutional Source

Beutler Lab

Gene Symbol

Rab3il1

Ensembl Gene

ENSMUSG00000024663

Gene Name

RAB3A interacting protein (rabin3)-like 1

Synonyms

1200014K04Rik, Rab3ail1

MMRRC Submission

067580-MU

Accession Numbers

Essential gene?

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

Stock #

R8154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9979033-10015744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10004936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 57 (M57L)

Ref Sequence

ENSEMBL: ENSMUSP00000113828 (fasta)

Gene Model

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

AlphaFold

Q8VDV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113161
AA Change: M126L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: M126L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117641
AA Change: M126L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663
AA Change: M126L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121418
AA Change: M57L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: M57L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131407
AA Change: M57L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115976
Gene: ENSMUSG00000024663
AA Change: M57L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137637
AA Change: M57L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120366
Gene: ENSMUSG00000024663
AA Change: M57L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144788
AA Change: M126L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: M126L

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	T	3: 122,718,142 (GRCm39)	G12C	probably damaging	Het
Adam34l	A	T	8: 44,078,424 (GRCm39)	I600N	probably damaging	Het
Adamts10	C	A	17: 33,756,902 (GRCm39)	P357T	probably damaging	Het
Bmyc	T	A	2: 25,597,346 (GRCm39)	S137T	probably damaging	Het
Bpifa1	T	A	2: 153,987,654 (GRCm39)	M168K	possibly damaging	Het
Card11	T	G	5: 140,886,732 (GRCm39)	K339T	probably damaging	Het
Ccdc149	C	T	5: 52,542,446 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,896 (GRCm39)	S193P	probably benign	Het
Cracd	A	T	5: 76,989,644 (GRCm39)	E62D	unknown	Het
Csf2rb	A	G	15: 78,224,642 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,434 (GRCm39)	E576G	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,493 (GRCm39)	N238S	probably benign	Het
Dnaja3	C	A	16: 4,517,740 (GRCm39)	T375K	possibly damaging	Het
Espnl	C	T	1: 91,252,921 (GRCm39)	H217Y	possibly damaging	Het
Exoc4	T	C	6: 33,887,473 (GRCm39)	S754P	probably benign	Het
Fcgbp	A	G	7: 27,784,507 (GRCm39)	D189G	probably benign	Het
Gle1	T	A	2: 29,828,619 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gtf2i	A	T	5: 134,280,721 (GRCm39)	F583L	probably benign	Het
Heatr9	T	A	11: 83,402,703 (GRCm39)	Y532F	possibly damaging	Het
Hic2	C	T	16: 17,076,344 (GRCm39)	S391L	probably benign	Het
Hipk1	A	G	3: 103,656,652 (GRCm39)	V905A	probably damaging	Het
Inpp5f	T	G	7: 128,265,991 (GRCm39)	W211G	possibly damaging	Het
Katnip	T	C	7: 125,412,802 (GRCm39)	L382P	probably damaging	Het
Kcnma1	T	A	14: 23,361,822 (GRCm39)	Y1123F	possibly damaging	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lmod3	T	A	6: 97,224,941 (GRCm39)	K293N	probably damaging	Het
Luzp1	T	C	4: 136,269,195 (GRCm39)	S473P	possibly damaging	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map4k4	T	G	1: 40,060,302 (GRCm39)	Y1030*	probably null	Het
Miga1	A	G	3: 152,026,337 (GRCm39)		probably benign	Het
Mrpl18	T	C	17: 13,130,608 (GRCm39)	E167G	probably damaging	Het
Myh4	A	G	11: 67,144,200 (GRCm39)	E1190G	probably damaging	Het
Ngef	C	T	1: 87,468,482 (GRCm39)	M92I	probably benign	Het
Nlrc4	T	A	17: 74,752,904 (GRCm39)	Y493F	probably damaging	Het
Or52s19	A	C	7: 103,007,763 (GRCm39)	C213G	probably benign	Het
Otud7a	C	A	7: 63,407,612 (GRCm39)	F638L	probably benign	Het
Padi2	T	A	4: 140,651,620 (GRCm39)		probably null	Het
Pcdhgb1	A	G	18: 37,815,596 (GRCm39)	I696V	probably damaging	Het
Pikfyve	T	C	1: 65,304,948 (GRCm39)	F1745S	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prrc2b	C	T	2: 32,108,689 (GRCm39)	A1637V	probably benign	Het
Rbl2	A	G	8: 91,833,825 (GRCm39)	D885G	probably damaging	Het
Rbm25	A	G	12: 83,691,205 (GRCm39)	M47V	unknown	Het
Rd3l	T	A	12: 111,946,638 (GRCm39)	H46L	probably benign	Het
Scn5a	C	G	9: 119,391,611 (GRCm39)	R27P	possibly damaging	Het
Set	T	A	2: 29,959,100 (GRCm39)	V99D	probably benign	Het
Sh3tc1	T	A	5: 35,875,696 (GRCm39)	I138F	probably damaging	Het
Slf2	T	A	19: 44,923,596 (GRCm39)	S137T	possibly damaging	Het
Smg8	A	T	11: 86,976,063 (GRCm39)	M506K	possibly damaging	Het
Stpg2	G	A	3: 139,014,938 (GRCm39)	V368M	probably damaging	Het
Trav16d-dv11	T	C	14: 53,284,999 (GRCm39)	V25A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Vrk1	A	G	12: 106,036,793 (GRCm39)	K360E	probably benign	Het
Xirp2	T	A	2: 67,342,017 (GRCm39)	H1419Q	possibly damaging	Het
Yes1	T	C	5: 32,802,366 (GRCm39)	F94L	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,946 (GRCm39)	L201P	probably benign	Het
Zfp638	C	T	6: 83,954,391 (GRCm39)	R1499W	probably damaging	Het
Znfx1	A	T	2: 166,897,157 (GRCm39)	L589Q	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
R0324:Rab3il1	UTSW	19	10,005,653 (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
R8812:Rab3il1	UTSW	19	10,004,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGTGTGAACGGCTTTGC -3'
(R):5'- GGCTACTTAAATTTCAGACCCACC -3'

Sequencing Primer
(F):5'- ACGGCTTTGCAAAGTACGTGC -3'
(R):5'- CCAGACTTGGGTTCTCCTG -3'

Posted On

2020-06-30