Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02178:Gga1'

283213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gga1

Ensembl Gene

ENSMUSG00000033128

Gene Name

golgi associated, gamma adaptin ear containing, ARF binding protein 1

Synonyms

4930406E12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02178

Quality Score

Status

Chromosome

Chromosomal Location

78761390-78778785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78776247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 430 (M430K)

Ref Sequence

ENSEMBL: ENSMUSP00000035992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041587] [ENSMUST00000230192]

AlphaFold

Q8R0H9

Predicted Effect

probably benign
Transcript: ENSMUST00000041587
AA Change: M430K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: M430K

Domain	Start	End	E-Value	Type
VHS	10	143	9.89e-45	SMART
Pfam:GAT	222	299	1.4e-27	PFAM
low complexity region	313	340	N/A	INTRINSIC
low complexity region	366	378	N/A	INTRINSIC
low complexity region	419	425	N/A	INTRINSIC
low complexity region	459	470	N/A	INTRINSIC
low complexity region	474	489	N/A	INTRINSIC
Alpha_adaptinC2	503	627	4.21e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229353

Predicted Effect

probably benign
Transcript: ENSMUST00000230192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230772

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele display decreased birth weight, slow postnatal weight gain, hypoglycemia, increased plasma levels of acid hydrolases, and partial neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,418 (GRCm39)	T516S	possibly damaging	Het
6820408C15Rik	T	C	2: 152,269,921 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,232,422 (GRCm39)	D331G	probably benign	Het
Ar	A	G	X: 97,349,044 (GRCm39)	D675G	probably damaging	Het
Arhgap23	A	G	11: 97,343,179 (GRCm39)	D276G	probably benign	Het
Arhgef3	C	T	14: 26,987,486 (GRCm39)	R40*	probably null	Het
Atp1b4	G	T	X: 37,421,695 (GRCm39)	R293L	possibly damaging	Het
Borcs8	T	C	8: 70,617,897 (GRCm39)	L85P	probably damaging	Het
Carmil1	T	G	13: 24,278,386 (GRCm39)	K194N	probably damaging	Het
Catsper4	T	A	4: 133,954,637 (GRCm39)	K4N	probably benign	Het
Ccdc30	T	C	4: 119,206,921 (GRCm39)		probably benign	Het
Cd101	A	G	3: 100,901,082 (GRCm39)	S997P	probably damaging	Het
Cdkl5	G	A	X: 159,599,889 (GRCm39)	T792I	probably benign	Het
Cep135	A	G	5: 76,743,321 (GRCm39)	Y185C	probably damaging	Het
Clcn5	A	G	X: 7,052,563 (GRCm39)	Y59H	possibly damaging	Het
Col6a1	A	T	10: 76,546,909 (GRCm39)	I771N	unknown	Het
Crispld1	C	T	1: 17,832,327 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,825,718 (GRCm39)	I128T	possibly damaging	Het
Has2	A	G	15: 56,545,456 (GRCm39)	Y49H	probably damaging	Het
Ivd	A	G	2: 118,701,915 (GRCm39)	I116V	probably benign	Het
Krt75	T	C	15: 101,481,226 (GRCm39)	N183D	probably benign	Het
Map3k9	A	T	12: 81,790,611 (GRCm39)	I314N	probably damaging	Het
Map6d1	T	G	16: 20,055,448 (GRCm39)	E129D	probably damaging	Het
Mettl22	T	C	16: 8,296,146 (GRCm39)	V145A	probably benign	Het
Muc5ac	T	A	7: 141,359,184 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,802 (GRCm39)	F1416L	probably benign	Het
Nlrc4	T	C	17: 74,753,838 (GRCm39)	I182V	probably damaging	Het
Or5b21	T	A	19: 12,839,907 (GRCm39)	I256N	possibly damaging	Het
Or7a35	T	C	10: 78,853,554 (GRCm39)	Y133H	possibly damaging	Het
Phc3	T	C	3: 30,984,012 (GRCm39)	T668A	possibly damaging	Het
Pheta2	T	A	15: 82,227,527 (GRCm39)	D15E	possibly damaging	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Prkcq	A	C	2: 11,281,851 (GRCm39)	Y460S	possibly damaging	Het
Prmt8	T	A	6: 127,674,770 (GRCm39)	E286V	probably benign	Het
Ptprb	A	T	10: 116,158,437 (GRCm39)	M503L	probably benign	Het
Ptprq	A	T	10: 107,522,180 (GRCm39)	D590E	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps6kc1	A	T	1: 190,604,033 (GRCm39)	S196R	possibly damaging	Het
Ryr3	A	G	2: 112,656,144 (GRCm39)	Y1951H	probably benign	Het
Sbno1	A	T	5: 124,538,258 (GRCm39)		probably null	Het
Sde2	T	G	1: 180,678,796 (GRCm39)	L20R	possibly damaging	Het
Slco1a5	A	T	6: 142,208,414 (GRCm39)	C81*	probably null	Het
Snx2	A	G	18: 53,332,857 (GRCm39)	E177G	possibly damaging	Het
Spg11	A	T	2: 121,927,783 (GRCm39)	V667D	probably damaging	Het
Tas2r115	T	C	6: 132,714,271 (GRCm39)	T227A	probably benign	Het
Tmed9	A	G	13: 55,741,108 (GRCm39)	H41R	possibly damaging	Het
Vmn1r35	T	G	6: 66,656,086 (GRCm39)	S28R	probably damaging	Het
Vmn2r110	A	C	17: 20,804,706 (GRCm39)		probably null	Het
Vstm2l	T	C	2: 157,777,337 (GRCm39)	Y72H	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zbtb4	A	T	11: 69,667,255 (GRCm39)	R187*	probably null	Het
Zfp598	A	G	17: 24,896,517 (GRCm39)	D198G	probably damaging	Het
Zp2	G	T	7: 119,732,973 (GRCm39)	A629E	possibly damaging	Het

Other mutations in Gga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Gga1	APN	15	78,767,555 (GRCm39)	missense	possibly damaging	0.68
IGL01921:Gga1	APN	15	78,777,995 (GRCm39)	missense	possibly damaging	0.82
IGL02697:Gga1	APN	15	78,769,546 (GRCm39)	missense	probably damaging	1.00
IGL02931:Gga1	APN	15	78,777,522 (GRCm39)	missense	possibly damaging	0.95
IGL03025:Gga1	APN	15	78,772,382 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Gga1	UTSW	15	78,777,836 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Gga1	UTSW	15	78,777,990 (GRCm39)	missense	probably benign	0.37
R0838:Gga1	UTSW	15	78,776,118 (GRCm39)	missense	probably damaging	1.00
R1167:Gga1	UTSW	15	78,772,370 (GRCm39)	missense	probably damaging	1.00
R1620:Gga1	UTSW	15	78,772,670 (GRCm39)	missense	probably damaging	1.00
R1757:Gga1	UTSW	15	78,773,230 (GRCm39)	missense	probably damaging	1.00
R2128:Gga1	UTSW	15	78,772,648 (GRCm39)	missense	probably damaging	1.00
R2438:Gga1	UTSW	15	78,769,498 (GRCm39)	missense	probably damaging	1.00
R4050:Gga1	UTSW	15	78,775,691 (GRCm39)	missense	probably benign	0.01
R4199:Gga1	UTSW	15	78,773,275 (GRCm39)	missense	probably damaging	1.00
R4684:Gga1	UTSW	15	78,769,509 (GRCm39)	missense	probably damaging	0.99
R5070:Gga1	UTSW	15	78,776,217 (GRCm39)	missense	possibly damaging	0.57
R5579:Gga1	UTSW	15	78,777,388 (GRCm39)	missense	probably damaging	1.00
R7340:Gga1	UTSW	15	78,775,651 (GRCm39)	missense	probably benign	0.00
R7657:Gga1	UTSW	15	78,773,327 (GRCm39)	splice site	probably null
R7864:Gga1	UTSW	15	78,772,444 (GRCm39)	missense	probably damaging	1.00
R9038:Gga1	UTSW	15	78,768,321 (GRCm39)	missense	probably damaging	0.97
R9089:Gga1	UTSW	15	78,773,952 (GRCm39)	missense	probably damaging	0.98
R9443:Gga1	UTSW	15	78,765,247 (GRCm39)	missense	possibly damaging	0.88
R9504:Gga1	UTSW	15	78,767,528 (GRCm39)	missense	probably damaging	1.00
Z1088:Gga1	UTSW	15	78,776,221 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16