Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03283:Garin4'

415643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Garin4

Ensembl Gene

ENSMUSG00000091017

Gene Name

golgi associated RAB2 interactor family member 4

Synonyms

4933417M04Rik, Fam71a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL03283

Quality Score

Status

Chromosome

Chromosomal Location

190894781-190897014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 190895029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 538 (R538H)

Ref Sequence

ENSEMBL: ENSMUSP00000127945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171798]

AlphaFold

B7XG49

Predicted Effect

probably benign
Transcript: ENSMUST00000171798
AA Change: R538H

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: R538H

Domain	Start	End	E-Value	Type
Pfam:DUF3699	120	193	3.6e-31	PFAM
low complexity region	214	227	N/A	INTRINSIC
low complexity region	505	513	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicdl2	A	G	17: 23,886,155 (GRCm39)	E361G	probably damaging	Het
Cd163	A	G	6: 124,286,158 (GRCm39)	D236G	possibly damaging	Het
Cep76	A	T	18: 67,773,139 (GRCm39)	I53N	possibly damaging	Het
Cfap43	A	G	19: 47,779,851 (GRCm39)		probably benign	Het
Champ1	T	C	8: 13,928,786 (GRCm39)	S315P	probably benign	Het
Ctdsp2	A	G	10: 126,832,266 (GRCm39)	T91A	probably benign	Het
Cyp4a32	G	T	4: 115,468,280 (GRCm39)	K283N	possibly damaging	Het
Dgki	A	G	6: 36,914,246 (GRCm39)		probably benign	Het
Fads2b	A	C	2: 85,320,751 (GRCm39)	F351V	probably damaging	Het
Gabrr2	A	G	4: 33,082,364 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,535,522 (GRCm39)	Q188K	probably damaging	Het
Grik2	A	T	10: 49,454,365 (GRCm39)	M50K	probably benign	Het
Muc5ac	A	G	7: 141,367,518 (GRCm39)	M2980V	probably benign	Het
Pafah2	C	T	4: 134,145,408 (GRCm39)	T264M	probably damaging	Het
Tacc2	A	G	7: 130,343,996 (GRCm39)	M2552V	possibly damaging	Het
Usp3	C	T	9: 66,469,831 (GRCm39)		probably null	Het

Other mutations in Garin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Garin4	APN	1	190,895,224 (GRCm39)	missense	probably benign	0.00
IGL01541:Garin4	APN	1	190,896,606 (GRCm39)	nonsense	probably null
IGL02364:Garin4	APN	1	190,895,713 (GRCm39)	missense	probably benign	0.03
IGL02573:Garin4	APN	1	190,896,067 (GRCm39)	missense	probably damaging	1.00
IGL02705:Garin4	APN	1	190,896,499 (GRCm39)	missense	probably damaging	1.00
IGL03057:Garin4	APN	1	190,895,141 (GRCm39)	missense	probably benign	0.01
R0234:Garin4	UTSW	1	190,895,105 (GRCm39)	missense	probably benign	0.00
R0234:Garin4	UTSW	1	190,895,105 (GRCm39)	missense	probably benign	0.00
R0402:Garin4	UTSW	1	190,896,637 (GRCm39)	missense	probably benign	0.03
R0635:Garin4	UTSW	1	190,895,924 (GRCm39)	missense	probably benign
R0750:Garin4	UTSW	1	190,896,682 (GRCm39)	start gained	probably benign
R1118:Garin4	UTSW	1	190,896,682 (GRCm39)	start gained	probably benign
R1521:Garin4	UTSW	1	190,896,219 (GRCm39)	missense	probably benign	0.00
R1573:Garin4	UTSW	1	190,896,682 (GRCm39)	start gained	probably benign
R1654:Garin4	UTSW	1	190,895,678 (GRCm39)	missense	probably benign	0.00
R1699:Garin4	UTSW	1	190,896,018 (GRCm39)	missense	probably benign	0.01
R1900:Garin4	UTSW	1	190,896,631 (GRCm39)	missense	possibly damaging	0.76
R2912:Garin4	UTSW	1	190,895,425 (GRCm39)	missense	probably benign	0.00
R2939:Garin4	UTSW	1	190,896,103 (GRCm39)	missense	possibly damaging	0.54
R3747:Garin4	UTSW	1	190,896,207 (GRCm39)	missense	probably damaging	1.00
R4133:Garin4	UTSW	1	190,895,205 (GRCm39)	missense	probably benign	0.05
R6038:Garin4	UTSW	1	190,894,919 (GRCm39)	missense	probably damaging	0.98
R6038:Garin4	UTSW	1	190,894,919 (GRCm39)	missense	probably damaging	0.98
R7179:Garin4	UTSW	1	190,896,218 (GRCm39)	missense	probably damaging	1.00
R7182:Garin4	UTSW	1	190,895,548 (GRCm39)	missense	probably damaging	0.99
R7261:Garin4	UTSW	1	190,896,308 (GRCm39)	missense	unknown
R7326:Garin4	UTSW	1	190,896,550 (GRCm39)	missense	probably benign	0.00
R7363:Garin4	UTSW	1	190,895,910 (GRCm39)	missense	probably damaging	0.99
R7960:Garin4	UTSW	1	190,895,645 (GRCm39)	missense	probably benign	0.02
R8120:Garin4	UTSW	1	190,895,022 (GRCm39)	missense	probably damaging	0.99
R8916:Garin4	UTSW	1	190,895,857 (GRCm39)	missense	probably benign	0.00
R9011:Garin4	UTSW	1	190,895,258 (GRCm39)	missense	probably benign	0.08
R9090:Garin4	UTSW	1	190,895,153 (GRCm39)	missense	probably damaging	1.00
R9165:Garin4	UTSW	1	190,895,258 (GRCm39)	missense	probably benign	0.04
R9189:Garin4	UTSW	1	190,894,900 (GRCm39)	missense	possibly damaging	0.65
R9271:Garin4	UTSW	1	190,895,153 (GRCm39)	missense	probably damaging	1.00
Z1176:Garin4	UTSW	1	190,895,942 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02