Mutagenetix > Incidental Mutation

Incidental Mutation 'R3752:Rab3il1'

271285

Institutional Source

Beutler Lab

Gene Symbol

Rab3il1

Ensembl Gene

ENSMUSG00000024663

Gene Name

RAB3A interacting protein (rabin3)-like 1

Synonyms

1200014K04Rik, Rab3ail1

MMRRC Submission

040737-MU

Accession Numbers

Essential gene?

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

Stock #

R3752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9979033-10015744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10007841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 227 (T227S)

Ref Sequence

ENSEMBL: ENSMUSP00000113551 (fasta)

Gene Model

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

AlphaFold

Q8VDV3

Predicted Effect

probably benign
Transcript: ENSMUST00000113161
AA Change: T300S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: T300S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117641
AA Change: T227S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663
AA Change: T227S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121418
AA Change: T231S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: T231S

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 benign
Transcript: ENSMUST00000144788
AA Change: T300S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: T300S

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

0.0631

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,588,904 (GRCm39)	I107N	probably damaging	Het
Adh1	G	A	3: 137,994,555 (GRCm39)	V292I	probably benign	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Cep170	A	G	1: 176,610,061 (GRCm39)		probably benign	Het
Col4a4	G	A	1: 82,458,215 (GRCm39)	P1120S	probably damaging	Het
Cramp1	A	T	17: 25,190,532 (GRCm39)	N1067K	probably damaging	Het
Dhrs7c	A	G	11: 67,702,281 (GRCm39)	T90A	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Eml6	C	A	11: 29,759,360 (GRCm39)	V798F	probably benign	Het
Ext1	A	T	15: 52,939,306 (GRCm39)	V581E	probably damaging	Het
Fbf1	C	T	11: 116,038,622 (GRCm39)	R833Q	probably benign	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Gm10521	A	G	1: 171,723,712 (GRCm39)	T8A	unknown	Het
Hapln4	A	T	8: 70,539,615 (GRCm39)	L215F	probably damaging	Het
Hmgcr	T	C	13: 96,799,624 (GRCm39)	I157V	probably damaging	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Lama3	T	A	18: 12,640,086 (GRCm39)	C1700S	probably damaging	Het
Lama5	C	T	2: 179,829,015 (GRCm39)	C2042Y	probably damaging	Het
Lrrc9	T	G	12: 72,507,580 (GRCm39)	Y360*	probably null	Het
Lrrd1	T	A	5: 3,900,282 (GRCm39)	S196T	probably benign	Het
Mdc1	C	T	17: 36,156,821 (GRCm39)	A76V	probably damaging	Het
Mei1	C	T	15: 81,970,383 (GRCm39)	T428M	probably damaging	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Nobox	T	G	6: 43,284,167 (GRCm39)	K126N	probably damaging	Het
Ogn	C	T	13: 49,776,307 (GRCm39)	L249F	probably benign	Het
Or10ag59	A	G	2: 87,406,057 (GRCm39)	I210V	probably benign	Het
Or6a2	A	T	7: 106,600,682 (GRCm39)	Y128*	probably null	Het
Paqr8	A	G	1: 21,005,856 (GRCm39)	T337A	probably benign	Het
Pcdhb15	T	A	18: 37,606,810 (GRCm39)	V14E	probably damaging	Het
Perm1	A	T	4: 156,302,403 (GRCm39)	I316L	probably benign	Het
Plxnb2	G	A	15: 89,041,458 (GRCm39)		probably benign	Het
Rag2	A	T	2: 101,461,121 (GRCm39)	Y477F	probably damaging	Het
Ralgapa2	A	T	2: 146,263,551 (GRCm39)	V722E	possibly damaging	Het
Rbp3	A	T	14: 33,677,969 (GRCm39)	E639V	probably damaging	Het
Sh2b1	A	G	7: 126,067,959 (GRCm39)	V565A	probably damaging	Het
Skint6	T	C	4: 112,700,096 (GRCm39)		probably benign	Het
Slc47a1	C	T	11: 61,235,207 (GRCm39)	R542Q	possibly damaging	Het
Slc6a5	T	C	7: 49,586,062 (GRCm39)		probably null	Het
Slc9a8	C	A	2: 167,299,272 (GRCm39)	H215N	probably benign	Het
Slit1	C	T	19: 41,635,406 (GRCm39)		probably null	Het
Snx1	A	T	9: 66,012,933 (GRCm39)		probably null	Het
Tbc1d30	T	A	10: 121,108,073 (GRCm39)	N443I	probably damaging	Het
Tex15	T	A	8: 34,061,443 (GRCm39)	M565K	probably benign	Het
Traf3ip1	T	C	1: 91,428,639 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,446,019 (GRCm39)	D384G	probably damaging	Het
Vldlr	G	A	19: 27,215,731 (GRCm39)	E243K	probably damaging	Het
Vps35	A	G	8: 86,001,460 (GRCm39)	S453P	probably benign	Het
Zfp644	A	G	5: 106,784,249 (GRCm39)	V766A	probably benign	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
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'- TTGACTTCACAGTGCAGGAGG -3'
(R):5'- ATGAATCCCGGGAGACAGTCAG -3'

Sequencing Primer
(F):5'- ACAGTGGTTAGCTGGGGATCC -3'
(R):5'- AGTCACCCTGAATGTTATAGTCC -3'

Posted On

2015-03-18