Mutagenetix > Incidental Mutation

Incidental Mutation 'R4803:Rab3il1'

370516

Institutional Source

Beutler Lab

Gene Symbol

Rab3il1

Ensembl Gene

ENSMUSG00000024663

Gene Name

RAB3A interacting protein (rabin3)-like 1

Synonyms

1200014K04Rik, Rab3ail1

Accession Numbers

Essential gene?

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

Stock #

R4803 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

9979033-10015744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10004808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 110 (Q110K)

Ref Sequence

ENSEMBL: ENSMUSP00000113551 (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: Q110K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: Q110K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117641
AA Change: Q110K

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663
AA Change: Q110K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121418
AA Change: Q41K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: Q41K

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
AA Change: Q41K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115976
Gene: ENSMUSG00000024663
AA Change: Q41K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137637
AA Change: Q41K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120366
Gene: ENSMUSG00000024663
AA Change: Q41K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144788
AA Change: Q110K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: Q110K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149967
AA Change: Q41K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120401
Gene: ENSMUSG00000024663
AA Change: Q41K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Anxa8	T	A	14: 33,814,579 (GRCm39)		probably null	Het
Ap4e1	A	G	2: 126,891,479 (GRCm39)	I83M	probably benign	Het
Arhgap44	G	C	11: 64,943,921 (GRCm39)	P197A	probably benign	Het
Asb1	T	A	1: 91,480,051 (GRCm39)	V157E	probably damaging	Het
B3gat1	T	A	9: 26,666,986 (GRCm39)	Y73N	probably benign	Het
Bmp8a	G	A	4: 123,218,362 (GRCm39)	T219I	possibly damaging	Het
Cacna1c	G	A	6: 118,728,502 (GRCm39)	S285F	probably damaging	Het
Cd163	A	G	6: 124,289,389 (GRCm39)	D369G	probably damaging	Het
Ckap2l	C	T	2: 129,111,176 (GRCm39)	G674R	probably damaging	Het
Cog2	A	G	8: 125,262,190 (GRCm39)	Y276C	probably damaging	Het
Col16a1	A	T	4: 129,948,901 (GRCm39)		probably benign	Het
Col5a1	G	A	2: 27,901,353 (GRCm39)	G1282R	unknown	Het
Cyp2c29	A	T	19: 39,313,439 (GRCm39)	M351L	probably benign	Het
Cyp4f15	T	A	17: 32,911,554 (GRCm39)	D145E	probably benign	Het
Defb48	T	C	14: 63,221,906 (GRCm39)	Y4C	unknown	Het
Dnaaf3	T	C	7: 4,529,903 (GRCm39)	Q292R	probably benign	Het
Dnah11	T	C	12: 118,091,343 (GRCm39)	M930V	possibly damaging	Het
Dnaja2	A	T	8: 86,280,029 (GRCm39)	I50K	probably damaging	Het
Dnm2	A	G	9: 21,385,925 (GRCm39)	N316S	probably damaging	Het
Dusp12	A	G	1: 170,708,175 (GRCm39)	Y181H	possibly damaging	Het
Efemp1	T	G	11: 28,871,795 (GRCm39)	F437V	possibly damaging	Het
Eps8l3	T	A	3: 107,798,325 (GRCm39)	V464D	probably damaging	Het
Fat2	A	T	11: 55,175,886 (GRCm39)	L1609Q	probably benign	Het
Fbxw24	C	T	9: 109,453,910 (GRCm39)	V79I	probably benign	Het
Fgl2	A	T	5: 21,580,918 (GRCm39)	Q420L	probably benign	Het
Filip1	T	C	9: 79,727,396 (GRCm39)	K408E	probably benign	Het
Fkbp9	A	C	6: 56,852,692 (GRCm39)	I471L	probably benign	Het
Fndc1	A	T	17: 7,972,538 (GRCm39)	S1465T	probably damaging	Het
Fry	A	T	5: 150,322,998 (GRCm39)	T1050S	probably benign	Het
Gm12258	G	A	11: 58,749,856 (GRCm39)	V344I	probably benign	Het
Gtf3c1	A	G	7: 125,262,712 (GRCm39)	V1049A	probably damaging	Het
Ireb2	A	G	9: 54,814,098 (GRCm39)	E829G	probably benign	Het
Itih5	G	A	2: 10,245,392 (GRCm39)	V494I	probably benign	Het
Krt75	A	T	15: 101,476,507 (GRCm39)	D419E	probably benign	Het
Lama1	T	C	17: 68,116,266 (GRCm39)	S2378P	probably damaging	Het
Lcorl	T	A	5: 45,904,623 (GRCm39)		probably null	Het
Man2a1	A	T	17: 64,966,004 (GRCm39)	H314L	probably damaging	Het
Mthfd1l	T	A	10: 3,957,840 (GRCm39)	H292Q	possibly damaging	Het
Ocm	A	T	5: 143,960,686 (GRCm39)	M87K	possibly damaging	Het
Oplah	A	G	15: 76,186,968 (GRCm39)	Y616H	probably damaging	Het
Or4s2b	A	T	2: 88,508,366 (GRCm39)	S56C	probably benign	Het
Or52e4	A	C	7: 104,705,863 (GRCm39)	I137L	probably benign	Het
Or5b99	T	C	19: 12,976,533 (GRCm39)	L61P	probably damaging	Het
Or5p58	A	C	7: 107,694,666 (GRCm39)	I37S	probably damaging	Het
Or8c13	C	A	9: 38,091,546 (GRCm39)	S191I	probably damaging	Het
Or8g32	A	G	9: 39,305,932 (GRCm39)	T282A	probably benign	Het
Pde3a	G	A	6: 141,404,812 (GRCm39)	V346M	probably damaging	Het
Pdlim1	T	A	19: 40,231,892 (GRCm39)	E162V	possibly damaging	Het
Pdzd2	C	G	15: 12,374,681 (GRCm39)	S1818T	probably benign	Het
Phf24	G	A	4: 42,933,731 (GRCm39)	G38S	probably damaging	Het
Plekhg1	T	C	10: 3,907,186 (GRCm39)	V701A	probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Ptprz1	A	G	6: 23,001,545 (GRCm39)	S1212G	probably benign	Het
Rin3	A	T	12: 102,327,642 (GRCm39)		probably benign	Het
Rps6kb2	T	A	19: 4,208,677 (GRCm39)	K280*	probably null	Het
Slc27a6	G	T	18: 58,705,105 (GRCm39)	L162F	possibly damaging	Het
Slc6a19	T	A	13: 73,832,161 (GRCm39)	I472F	possibly damaging	Het
Spatc1l	G	A	10: 76,405,206 (GRCm39)	R196Q	probably damaging	Het
Srp72	T	C	5: 77,132,231 (GRCm39)	I273T	probably damaging	Het
St8sia1	C	A	6: 142,813,649 (GRCm39)	S171I	probably benign	Het
Tas2r136	T	C	6: 132,754,455 (GRCm39)	H224R	probably damaging	Het
Tas2r140	A	G	6: 133,032,743 (GRCm39)	V5A	possibly damaging	Het
Tbce	C	T	13: 14,194,446 (GRCm39)	R71H	probably damaging	Het
Tdrd9	A	T	12: 111,963,269 (GRCm39)	K115*	probably null	Het
Thada	T	A	17: 84,580,245 (GRCm39)	H1403L	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Timm44	A	G	8: 4,317,932 (GRCm39)	S159P	probably damaging	Het
Tlk2	T	A	11: 105,171,926 (GRCm39)	C699S	probably damaging	Het
Tmem178b	A	G	6: 39,981,160 (GRCm39)	K65R	probably damaging	Het
Ttc28	T	C	5: 111,425,329 (GRCm39)	V1718A	possibly damaging	Het
Ttc6	T	G	12: 57,775,291 (GRCm39)	C1662W	probably damaging	Het
Ube2frt	T	A	12: 36,140,729 (GRCm39)		probably benign	Het
Unc13a	C	A	8: 72,115,494 (GRCm39)		probably null	Het
Vip	A	T	10: 5,594,099 (GRCm39)	I151F	probably damaging	Het
Vps16	C	T	2: 130,280,030 (GRCm39)	P85L	probably benign	Het
Wdsub1	T	C	2: 59,700,743 (GRCm39)		probably benign	Het
Zc3h12c	T	C	9: 52,027,853 (GRCm39)	D503G	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
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'- TACCTAGGAATCTGCTCCAGC -3'
(R):5'- CAACTGCTTTTCCGATGTCG -3'

Sequencing Primer
(F):5'- TAGCCTCATGCATGGGCTAC -3'
(R):5'- CGATGTCGCCTGCTTCATG -3'

Posted On

2016-02-04