Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02665:Rab3ip'

302694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab3ip

Ensembl Gene

ENSMUSG00000064181

Gene Name

RAB3A interacting protein

Synonyms

Rabin3, Gtpat12, SSX2 interacting protein

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02665

Quality Score

Status

Chromosome

Chromosomal Location

116905784-116950769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116937548 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 120 (Q120L)

Ref Sequence

ENSEMBL: ENSMUSP00000151326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020375] [ENSMUST00000218391] [ENSMUST00000219109] [ENSMUST00000219603]

Predicted Effect

probably benign
Transcript: ENSMUST00000020375
AA Change: Q120L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: Q120L

Domain	Start	End	E-Value	Type
low complexity region	84	100	N/A	INTRINSIC
PDB:4LHZ\|F	157	200	9e-15	PDB
low complexity region	213	220	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218391

Predicted Effect

probably benign
Transcript: ENSMUST00000219109
AA Change: Q120L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000219603
AA Change: Q120L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are fertile and show no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cenpc1	T	C	5: 86,046,403	N168S	probably benign	Het
Cep295	A	G	9: 15,326,632		probably benign	Het
Defb20	A	G	2: 152,479,576	Y91C	probably damaging	Het
Dio2	T	C	12: 90,729,653	D187G	possibly damaging	Het
Fat4	G	A	3: 39,002,836	R4227Q	probably benign	Het
Fsip2	G	A	2: 82,993,063	G6380D	probably damaging	Het
Gm5916	A	T	9: 36,128,666	F9I	possibly damaging	Het
Havcr2	T	A	11: 46,479,394	V216E	probably benign	Het
Hdac7	G	A	15: 97,796,957		probably benign	Het
Itgb8	T	C	12: 119,166,865		probably benign	Het
Kyat3	A	G	3: 142,734,466		probably null	Het
Lcn3	G	A	2: 25,766,404	A99T	possibly damaging	Het
Lox	T	A	18: 52,525,244		probably benign	Het
Lrrc7	A	G	3: 158,161,105	S1000P	probably damaging	Het
Muc5ac	T	C	7: 141,791,086	F98S	possibly damaging	Het
Nsd1	T	C	13: 55,296,183	Y1835H	probably damaging	Het
Pnpla3	A	G	15: 84,171,205	D104G	probably benign	Het
Ranbp6	T	A	19: 29,812,901	Q17L	possibly damaging	Het
Serpinb9g	T	C	13: 33,495,103	C319R	possibly damaging	Het
Ska3	T	C	14: 57,822,072	K99E	probably damaging	Het
Srcap	T	A	7: 127,540,903	S1330R	probably damaging	Het
Vmn2r82	T	A	10: 79,379,371	M396K	probably damaging	Het
Vmn2r87	T	G	10: 130,497,180	D67A	probably benign	Het

Other mutations in Rab3ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Rab3ip	APN	10	116907092	missense	probably benign	0.09
IGL01946:Rab3ip	APN	10	116937395	critical splice donor site	probably null
R1538:Rab3ip	UTSW	10	116939254	missense	probably damaging	1.00
R1565:Rab3ip	UTSW	10	116939223	missense	probably benign	0.09
R1760:Rab3ip	UTSW	10	116937510	missense	probably damaging	1.00
R2077:Rab3ip	UTSW	10	116918960	missense	possibly damaging	0.87
R4441:Rab3ip	UTSW	10	116915932	missense	probably benign	0.19
R5442:Rab3ip	UTSW	10	116918848	missense	probably benign
R5526:Rab3ip	UTSW	10	116918929	missense	possibly damaging	0.61
R5682:Rab3ip	UTSW	10	116907103	nonsense	probably null
R5921:Rab3ip	UTSW	10	116939247	missense	probably damaging	1.00
R6254:Rab3ip	UTSW	10	116915867	missense	probably damaging	1.00
R7021:Rab3ip	UTSW	10	116939378	missense	probably damaging	1.00
R7026:Rab3ip	UTSW	10	116937536	missense	probably benign	0.18
R7326:Rab3ip	UTSW	10	116937633	missense	probably benign	0.07
R7408:Rab3ip	UTSW	10	116937641	missense	possibly damaging	0.62
R7655:Rab3ip	UTSW	10	116914139	missense	probably benign	0.04
R7656:Rab3ip	UTSW	10	116914139	missense	probably benign	0.04
R8363:Rab3ip	UTSW	10	116918964	missense	probably damaging	1.00
R8537:Rab3ip	UTSW	10	116910154	missense	probably damaging	1.00

Posted On

2015-04-16