Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Garin4'

559021

Institutional Source

Beutler Lab

Gene Symbol

Garin4

Ensembl Gene

ENSMUSG00000091017

Gene Name

golgi associated RAB2 interactor family member 4

Synonyms

4933417M04Rik, Fam71a

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

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

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

190894781-190897014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 190895548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 365 (R365H)

Ref Sequence

ENSEMBL: ENSMUSP00000127945 (fasta)

Gene Model

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

AlphaFold

B7XG49

Predicted Effect

probably damaging
Transcript: ENSMUST00000171798
AA Change: R365H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: R365H

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Gk5	G	T	9: 96,001,579 (GRCm39)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Manba	A	T	3: 135,273,274 (GRCm39)	N736I	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,261,776 (GRCm39)	D169E	possibly damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Pigk	G	A	3: 152,428,188 (GRCm39)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Scnm1	A	T	3: 95,041,165 (GRCm39)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,543,426 (GRCm39)	V163A	possibly damaging	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
IGL03283:Garin4	APN	1	190,895,029 (GRCm39)	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- ATCGCCAACACCTCTGTGAC -3'
(R):5'- GCAGCAAACATGCCTGAAGG -3'

Sequencing Primer
(F):5'- AACACCTCTGTGACTGGTTG -3'
(R):5'- CCTGAAGGCTTGGGACAG -3'

Posted On

2019-06-26