Mutagenetix > Incidental Mutation

Incidental Mutation 'RF040:Garin5a'

604768

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: 0.084) question?

Stock #

RF040 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

44146005-44150910 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGGAGGA to GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA at 44149955 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: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTG	TGCTGTGACAGCTGTG	1: 82,891,298 (GRCm39)		probably benign	Het
A030005L19Rik	G	GTGGCTGCTC	1: 82,891,311 (GRCm39)		probably benign	Het
Brme1	TG	TGTCAGGGCAGCAGCAG	8: 84,894,204 (GRCm39)		probably benign	Het
Cacna1f	CTGAATTGGTTCCCAGACCCGTGT	CT	X: 7,485,210 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGA	19: 47,129,716 (GRCm39)		probably benign	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)		probably null	Het
Dnajc2	TAGTTG	T	5: 21,962,695 (GRCm39)		probably null	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)		probably null	Het
Flywch1	CTCCTGGTGT	CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT	17: 23,981,143 (GRCm39)		probably null	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Heatr3	TAT	TATTGAT	8: 88,883,085 (GRCm39)		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGC	4: 136,270,507 (GRCm39)		probably benign	Het
Mamld1	AACA	AACAACA	X: 70,162,420 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,183,388 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,571 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Ncoa6	TGCAGC	TGC	2: 155,263,651 (GRCm39)		probably benign	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)		probably null	Het
Nolc1	AGCAGCAGC	AGCAGCAGCCGCAGCAGC	19: 46,069,802 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,068 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Or52z15	ACTTGCTGATATCTT	ACTT	7: 103,332,145 (GRCm39)		probably null	Het
Osmr	TTCT	TTCTTCT	15: 6,867,182 (GRCm39)		probably benign	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Pdik1l	AC	ACCACCGC	4: 134,006,826 (GRCm39)		probably benign	Het
Rpgrip1	AGGAAGAGG	AG	14: 52,386,994 (GRCm39)		probably null	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150 (GRCm39)		probably benign	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	GC	GCCCCACC	19: 26,608,422 (GRCm39)		probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sprr2b	CAGTATGCTGTGAGCCTTGTCCTCCT	C	3: 92,224,871 (GRCm39)		probably null	Het
Sry	GCTG	GCTGGTGGTGGTGGTCATGGAACTG	Y: 2,662,590 (GRCm39)		probably benign	Het
Tcof1	CT	CTATT	18: 60,961,480 (GRCm39)		probably benign	Het
Tcof1	GC	GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC	18: 60,966,655 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,022 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,035 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGTCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGGTTGTTT	4: 107,047,723 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,673,141 (GRCm39)		probably benign	Het
Triobp	CAA	CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA	15: 78,851,263 (GRCm39)		probably benign	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGGAGCA	8: 109,682,733 (GRCm39)		probably benign	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
RF003:Garin5a	UTSW	7	44,149,951 (GRCm39)	frame shift	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	44,149,945 (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'- GCCTTCTACTTGCAACTGCG -3'
(R):5'- ACCTGGGCTAACAATATCAGC -3'

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

Posted On

2019-12-04