Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01732:Garin1a'

105554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Garin1a

Ensembl Gene

ENSMUSG00000079652

Gene Name

golgi associated RAB2 interactor 1A

Synonyms

Fam71f2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01732

Quality Score

Status

Chromosome

Chromosomal Location

29279592-29290679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29285979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 146 (H146L)

Ref Sequence

ENSEMBL: ENSMUSP00000110941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115286] [ENSMUST00000167131] [ENSMUST00000167608]

AlphaFold

B2RXB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000115286
AA Change: H146L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110941
Gene: ENSMUSG00000079652
AA Change: H146L

Domain	Start	End	E-Value	Type
Pfam:DUF3699	105	175	8.3e-28	PFAM
low complexity region	188	204	N/A	INTRINSIC
low complexity region	212	228	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167131
AA Change: H88L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132049
Gene: ENSMUSG00000079652
AA Change: H88L

Domain	Start	End	E-Value	Type
Pfam:DUF3699	46	119	7.1e-29	PFAM
low complexity region	130	146	N/A	INTRINSIC
low complexity region	154	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167608

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	G	T	4: 139,369,471 (GRCm39)	E341*	probably null	Het
Alpk3	A	G	7: 80,707,390 (GRCm39)	R5G	unknown	Het
Arhgef10l	C	T	4: 140,307,726 (GRCm39)	V113M	probably damaging	Het
Brca2	T	A	5: 150,465,852 (GRCm39)	I1872K	probably benign	Het
Cdk17	C	A	10: 93,053,907 (GRCm39)	P134T	probably benign	Het
Cerk	A	G	15: 86,030,517 (GRCm39)	S35P	possibly damaging	Het
Cfap126	T	C	1: 170,954,305 (GRCm39)	V174A	possibly damaging	Het
Cfhr1	T	C	1: 139,478,606 (GRCm39)	T255A	probably benign	Het
Clcn1	A	G	6: 42,287,606 (GRCm39)		probably benign	Het
Copz1	A	G	15: 103,206,318 (GRCm39)	E151G	probably benign	Het
Cubn	G	A	2: 13,494,747 (GRCm39)	Q101*	probably null	Het
Eri1	T	C	8: 35,958,397 (GRCm39)	E12G	possibly damaging	Het
Fut9	A	G	4: 25,619,867 (GRCm39)	F316L	possibly damaging	Het
Gm973	A	G	1: 59,669,396 (GRCm39)	I816V	probably benign	Het
Itln1	A	G	1: 171,362,348 (GRCm39)	M11T	probably benign	Het
Klc2	C	T	19: 5,159,825 (GRCm39)	R458Q	probably damaging	Het
Lrrc8b	A	T	5: 105,633,826 (GRCm39)	E766V	probably damaging	Het
Mmadhc	A	T	2: 50,171,197 (GRCm39)	I205N	probably damaging	Het
Myo10	A	G	15: 25,732,149 (GRCm39)	I342V	probably benign	Het
Ncapg	T	A	5: 45,851,195 (GRCm39)	V796D	probably damaging	Het
Olfm3	A	C	3: 114,890,649 (GRCm39)	D134A	possibly damaging	Het
Or3a1c	T	C	11: 74,046,279 (GRCm39)	C100R	probably damaging	Het
Or51t4	T	A	7: 102,598,446 (GRCm39)	I248N	probably damaging	Het
Or56b2	T	C	7: 104,337,543 (GRCm39)	M107T	possibly damaging	Het
Phldb3	A	G	7: 24,326,751 (GRCm39)	E593G	probably damaging	Het
Plcg1	T	A	2: 160,589,699 (GRCm39)	D74E	probably damaging	Het
Plekhm3	T	C	1: 64,961,407 (GRCm39)	D283G	probably benign	Het
Pnpla6	C	A	8: 3,572,616 (GRCm39)	T279N	probably damaging	Het
Prkcq	G	A	2: 11,265,644 (GRCm39)		probably benign	Het
Rbm11	G	A	16: 75,397,510 (GRCm39)	A147T	probably benign	Het
Rnf103	A	G	6: 71,487,366 (GRCm39)	K666E	probably damaging	Het
Selenos	A	G	7: 65,730,137 (GRCm39)	Y45C	probably damaging	Het
Septin11	A	G	5: 93,309,085 (GRCm39)	Y255C	probably damaging	Het
Serpinb3c	T	C	1: 107,199,702 (GRCm39)	H273R	probably benign	Het
Slc35f2	A	G	9: 53,713,909 (GRCm39)	D141G	probably damaging	Het
Sntg2	A	T	12: 30,362,648 (GRCm39)	Y33N	probably damaging	Het
Snx19	C	A	9: 30,373,649 (GRCm39)	T904K	probably damaging	Het
Tenm4	A	G	7: 96,544,716 (GRCm39)	Y2244C	probably damaging	Het
Tescl	A	G	7: 24,032,872 (GRCm39)	V151A	probably damaging	Het
Tnrc18	C	T	5: 142,757,816 (GRCm39)	V902M	unknown	Het
Trmt13	A	G	3: 116,375,113 (GRCm39)	L465S	probably damaging	Het
Ube2j2	T	G	4: 156,041,788 (GRCm39)	V249G	probably damaging	Het
Zan	T	C	5: 137,391,273 (GRCm39)	K4737R	unknown	Het
Zc3h6	T	C	2: 128,853,795 (GRCm39)	I430T	probably damaging	Het
Zfp750	G	A	11: 121,403,819 (GRCm39)	S352L	probably benign	Het
Zfp819	A	G	7: 43,265,846 (GRCm39)	K34E	probably benign	Het

Other mutations in Garin1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
3-1:Garin1a	UTSW	6	29,290,489 (GRCm39)	missense	possibly damaging	0.94
R0389:Garin1a	UTSW	6	29,281,391 (GRCm39)	missense	possibly damaging	0.92
R1348:Garin1a	UTSW	6	29,283,284 (GRCm39)	missense	probably benign
R1661:Garin1a	UTSW	6	29,285,937 (GRCm39)	missense	probably damaging	1.00
R1982:Garin1a	UTSW	6	29,285,921 (GRCm39)	missense	probably benign	0.35
R4553:Garin1a	UTSW	6	29,287,705 (GRCm39)	missense	probably benign	0.45
R5197:Garin1a	UTSW	6	29,281,221 (GRCm39)	start gained	probably benign
R5211:Garin1a	UTSW	6	29,286,098 (GRCm39)	nonsense	probably null
R5918:Garin1a	UTSW	6	29,285,942 (GRCm39)	missense	probably null	0.99
R5997:Garin1a	UTSW	6	29,290,423 (GRCm39)	nonsense	probably null
R7316:Garin1a	UTSW	6	29,286,101 (GRCm39)	missense	probably benign	0.00
R7480:Garin1a	UTSW	6	29,281,435 (GRCm39)	splice site	probably null
R8218:Garin1a	UTSW	6	29,286,072 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21