Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:Garin5a'

603478

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 #

RF015 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

44146005-44150910 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGGGTCTGAGGGAGGA to TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA at 44149946 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: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,824 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,822 (GRCm39)		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,819 (GRCm39)		probably benign	Het
Abcb4	GAA	G	5: 8,946,594 (GRCm39)		probably null	Het
Agap1	T	A	1: 89,561,985 (GRCm39)	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Arid1a	AGGC	A	4: 133,480,142 (GRCm39)		probably benign	Het
Bco2	A	G	9: 50,457,297 (GRCm39)	F82L	probably damaging	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,129,695 (GRCm39)		probably benign	Het
Capn9	T	C	8: 125,345,221 (GRCm39)	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 119,963,794 (GRCm39)		probably benign	Het
Cfap251	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,392,305 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,679 (GRCm39)		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 86,922,491 (GRCm39)		probably benign	Het
Cyria	T	A	12: 12,419,939 (GRCm39)	S294R	probably benign	Het
Dnah10	G	A	5: 124,895,141 (GRCm39)	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,821,420 (GRCm39)		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Gatad1	A	T	5: 3,697,523 (GRCm39)	C33S	possibly damaging	Het
H2-DMb1	A	G	17: 34,374,476 (GRCm39)	Y42C	probably damaging	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGCGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,447 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Het
Mucl2	T	A	15: 103,927,696 (GRCm39)	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,924,718 (GRCm39)	V1749A	probably benign	Het
Or52e5	A	G	7: 104,719,255 (GRCm39)	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,854,855 (GRCm39)	N417Y	probably damaging	Het
Pclo	G	T	5: 14,565,283 (GRCm39)	L16F	unknown	Het
Pik3c2g	T	A	6: 139,700,497 (GRCm39)	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf41	C	T	10: 128,271,279 (GRCm39)	A63V	probably benign	Het
Sirt1	C	T	10: 63,172,795 (GRCm39)	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Skor2	A	G	18: 76,948,483 (GRCm39)	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,857,315 (GRCm39)		probably benign	Het
Smco2	T	TTCG	6: 146,754,161 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,061,846 (GRCm39)	I172T	probably damaging	Het
Syne1	T	C	10: 5,252,248 (GRCm39)	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,966,656 (GRCm39)		probably benign	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,685,413 (GRCm39)	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,000,406 (GRCm39)		probably benign	Het
Utp18	A	G	11: 93,776,287 (GRCm39)	L66P	probably damaging	Het
Wnt7a	C	T	6: 91,371,405 (GRCm39)	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,013,444 (GRCm39)		probably benign	Het
Zgrf1	A	G	3: 127,356,882 (GRCm39)	I703V	probably benign	Het
Zpld2	T	C	4: 133,920,338 (GRCm39)	H609R	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
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'- CTGGGCTAACAATATCAGCCAC -3'

Sequencing Primer
(F):5'- TGCCCTTCACGCACGAG -3'
(R):5'- CACAGTCCCTAGTCTGCTGCAG -3'

Posted On

2019-12-04