Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Garin5a'

602627

Institutional Source

Beutler Lab

Gene Symbol

Garin5a

Ensembl Gene

ENSMUSG00000051113

Gene Name

golgi associated RAB2 interactor 5A

Synonyms

1700021P22Rik, Fam71e1, 0610007G24Rik, 1700021N13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

RF003 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

44146005-44150910 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

C to CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA at 44149951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000118515] [ENSMUST00000118808] [ENSMUST00000138328] [ENSMUST00000165208] [ENSMUST00000205359] [ENSMUST00000205422] [ENSMUST00000206398]

AlphaFold

A1L3C1

Predicted Effect

probably benign
Transcript: ENSMUST00000107927

SMART Domains

Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113

Domain	Start	End	E-Value	Type
low complexity region	70	85	N/A	INTRINSIC
Pfam:DUF3699	91	160	5.6e-20	PFAM
coiled coil region	164	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118515

SMART Domains

Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
low complexity region	239	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118808

SMART Domains

Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
low complexity region	246	255	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138328

SMART Domains

Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	154	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165208

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
IG	54	150	6.26e-5	SMART
PDB:2LHU\|A	160	236	7e-9	PDB
low complexity region	237	252	N/A	INTRINSIC
IG	258	337	5.21e-2	SMART
IG	347	430	1.2e-1	SMART
IG	440	526	2.72e-5	SMART
IG	546	631	1.68e-5	SMART
FN3	634	717	3.29e-11	SMART
FN3	732	815	1.23e-10	SMART
IG	842	925	6.07e-3	SMART
FN3	928	1010	2.08e-8	SMART
IGc2	1055	1122	6.91e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000205359

Predicted Effect

probably benign
Transcript: ENSMUST00000205422

Predicted Effect

probably benign
Transcript: ENSMUST00000206398

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
A630073D07Rik	A	C	6: 132,604,406 (GRCm39)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,686,727 (GRCm39)		probably benign	Het
Arb2a	A	T	13: 77,982,794 (GRCm39)	I135L	possibly damaging	Het
Arc	G	C	15: 74,543,980 (GRCm39)	T81S	probably benign	Het
Atad5	A	T	11: 80,002,386 (GRCm39)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,196,957 (GRCm39)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,196,958 (GRCm39)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 57,965,574 (GRCm39)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cep192	A	T	18: 67,971,027 (GRCm39)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,498,921 (GRCm39)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,593,440 (GRCm39)	M14V	probably benign	Het
Colec10	A	G	15: 54,325,787 (GRCm39)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,707,919 (GRCm39)	D748G	probably damaging	Het
Etl4	C	T	2: 20,524,729 (GRCm39)	Q21*	probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,356,131 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,821,865 (GRCm39)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,612 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,937,518 (GRCm39)		probably null	Het
Grip2	C	T	6: 91,760,574 (GRCm39)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,500,312 (GRCm39)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Il12a	A	T	3: 68,602,562 (GRCm39)	T102S	probably benign	Het
Il1a	T	A	2: 129,144,852 (GRCm39)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 82,696,150 (GRCm39)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,447,806 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGTGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,960,507 (GRCm39)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,567,258 (GRCm39)	A1821E	unknown	Het
Maz	A	G	7: 126,624,669 (GRCm39)	C284R	probably damaging	Het
Med23	A	G	10: 24,779,683 (GRCm39)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,427,099 (GRCm39)		probably benign	Het
Mmp14	C	T	14: 54,676,471 (GRCm39)	R339*	probably null	Het
Mroh9	T	G	1: 162,885,630 (GRCm39)	K334T	probably damaging	Het
Nab1	A	T	1: 52,518,441 (GRCm39)	C320S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Nudt4	T	C	10: 95,385,236 (GRCm39)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,458,084 (GRCm39)		probably benign	Het
Or10al2	A	C	17: 37,983,749 (GRCm39)	K278N	probably damaging	Het
Or2d4	T	A	7: 106,543,855 (GRCm39)	M118L	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	TTA	TTAGTA	7: 102,747,513 (GRCm39)		probably null	Het
Or7g16	T	C	9: 18,726,778 (GRCm39)	T271A	probably benign	Het
Or9a7	T	C	6: 40,521,296 (GRCm39)	I206V	probably benign	Het
Plxnc1	T	C	10: 94,630,306 (GRCm39)	Y1531C	probably damaging	Het
Pnma8b	TGA	TGAAGA	7: 16,679,941 (GRCm39)		probably benign	Het
Rp1	A	G	1: 4,414,917 (GRCm39)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 24,164,343 (GRCm39)		probably benign	Het
Sepsecs	G	A	5: 52,804,533 (GRCm39)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,646,828 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Tfeb	C	T	17: 48,099,003 (GRCm39)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,593,335 (GRCm39)		probably null	Het
Tmem94	G	A	11: 115,686,958 (GRCm39)	V1108M	probably damaging	Het
Usp35	T	C	7: 96,971,303 (GRCm39)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,629,598 (GRCm39)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp407	A	T	18: 84,227,688 (GRCm39)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,617,704 (GRCm39)	S254P	probably damaging	Het

Other mutations in Garin5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1355:Garin5a	UTSW	7	44,146,115 (GRCm39)	missense	possibly damaging	0.82
R5308:Garin5a	UTSW	7	44,149,606 (GRCm39)	missense	probably damaging	1.00
R5568:Garin5a	UTSW	7	44,150,428 (GRCm39)	missense	probably damaging	0.99
R6038:Garin5a	UTSW	7	44,149,719 (GRCm39)	missense	probably damaging	1.00
R6038:Garin5a	UTSW	7	44,149,719 (GRCm39)	missense	probably damaging	1.00
R8136:Garin5a	UTSW	7	44,149,704 (GRCm39)	missense	probably damaging	0.99
R8994:Garin5a	UTSW	7	44,146,342 (GRCm39)	missense	probably benign	0.09
R9716:Garin5a	UTSW	7	44,150,405 (GRCm39)	missense	probably damaging	1.00
RF002:Garin5a	UTSW	7	44,149,944 (GRCm39)	nonsense	probably null
RF013:Garin5a	UTSW	7	44,149,944 (GRCm39)	frame shift	probably null
RF015:Garin5a	UTSW	7	44,149,946 (GRCm39)	frame shift	probably null
RF017:Garin5a	UTSW	7	44,149,955 (GRCm39)	frame shift	probably null
RF017:Garin5a	UTSW	7	44,149,949 (GRCm39)	frame shift	probably null
RF020:Garin5a	UTSW	7	44,149,959 (GRCm39)	frame shift	probably null
RF034:Garin5a	UTSW	7	44,149,947 (GRCm39)	frame shift	probably null
RF038:Garin5a	UTSW	7	44,149,946 (GRCm39)	frame shift	probably null
RF040:Garin5a	UTSW	7	44,149,955 (GRCm39)	frame shift	probably null
RF040:Garin5a	UTSW	7	44,149,945 (GRCm39)	frame shift	probably null
RF045:Garin5a	UTSW	7	44,149,956 (GRCm39)	frame shift	probably null
RF047:Garin5a	UTSW	7	44,149,960 (GRCm39)	frame shift	probably null
RF047:Garin5a	UTSW	7	44,149,953 (GRCm39)	frame shift	probably null
RF050:Garin5a	UTSW	7	44,149,945 (GRCm39)	frame shift	probably null
RF051:Garin5a	UTSW	7	44,149,947 (GRCm39)	frame shift	probably null
RF055:Garin5a	UTSW	7	44,149,957 (GRCm39)	nonsense	probably null
RF056:Garin5a	UTSW	7	44,149,951 (GRCm39)	frame shift	probably null
RF057:Garin5a	UTSW	7	44,149,956 (GRCm39)	frame shift	probably null
RF060:Garin5a	UTSW	7	44,149,957 (GRCm39)	nonsense	probably null
RF060:Garin5a	UTSW	7	44,149,949 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCGCCTTCTACTTGCAACTG -3'
(R):5'- CCTGGGCTAACAATATCAGCC -3'

Sequencing Primer
(F):5'- TTCACGCACGAGGACACTG -3'
(R):5'- GCCACACAGTCCCTAGTCTG -3'

Posted On

2019-12-04