Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Gga1'

364078

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: 0.208) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

78761390-78778785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78777522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 558 (S558P)

Ref Sequence

ENSEMBL: ENSMUSP00000035992 (fasta)

Gene Model

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

AlphaFold

Q8R0H9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041587
AA Change: S558P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: S558P

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,029,012 (GRCm39)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,727,833 (GRCm39)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,277,650 (GRCm39)	E33*	probably null	Het
Arhgap29	T	C	3: 121,786,509 (GRCm39)	V358A	probably benign	Het
B3galt1	T	C	2: 67,948,728 (GRCm39)	S148P	probably damaging	Het
BC061237	A	G	14: 44,740,779 (GRCm39)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,412,047 (GRCm39)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,076,110 (GRCm39)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,249,663 (GRCm39)		probably benign	Het
Col5a2	T	C	1: 45,424,225 (GRCm39)	D1067G	probably damaging	Het
Col9a2	A	T	4: 120,910,389 (GRCm39)	R511S	probably benign	Het
Disp3	G	A	4: 148,333,658 (GRCm39)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 141,636,667 (GRCm39)	T308A	probably benign	Het
Ern1	T	C	11: 106,314,266 (GRCm39)	N178S	probably damaging	Het
Gas6	C	A	8: 13,527,136 (GRCm39)	C204F	probably damaging	Het
Gli1	T	C	10: 127,168,279 (GRCm39)	T525A	probably benign	Het
Gse1	A	G	8: 121,304,808 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,532,958 (GRCm39)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,408,037 (GRCm39)		probably benign	Het
Htt	A	T	5: 35,034,097 (GRCm39)	E1894D	probably damaging	Het
Kcnh8	G	A	17: 53,263,650 (GRCm39)	E716K	probably benign	Het
Kntc1	A	G	5: 123,937,874 (GRCm39)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,839,931 (GRCm39)	T211A	unknown	Het
Lin54	T	C	5: 100,628,180 (GRCm39)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,082,760 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,545,678 (GRCm39)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,500,923 (GRCm39)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,544,709 (GRCm39)	L169P	probably damaging	Het
Map9	C	A	3: 82,284,428 (GRCm39)	T334K	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,602 (GRCm39)	A338T	probably damaging	Het
Mst1	A	T	9: 107,961,841 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,549,421 (GRCm39)	F602I	probably benign	Het
Mylpf	T	A	7: 126,812,798 (GRCm39)	D98E	probably benign	Het
Naca	C	A	10: 127,883,551 (GRCm39)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,891,356 (GRCm39)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Npat	C	T	9: 53,482,341 (GRCm39)	Q1350*	probably null	Het
Oaz3	T	C	3: 94,342,287 (GRCm39)	N123S	probably benign	Het
Patj	A	G	4: 98,299,410 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,336,923 (GRCm39)	F280L	probably benign	Het
Piezo1	A	C	8: 123,210,258 (GRCm39)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 24,905,241 (GRCm39)	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,362,233 (GRCm39)	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,744,095 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,454,947 (GRCm39)	E31G	possibly damaging	Het
Sdhc	T	C	1: 170,971,124 (GRCm39)		probably benign	Het
Smim23	G	T	11: 32,770,667 (GRCm39)	P80T	probably damaging	Het
Snupn	C	T	9: 56,864,364 (GRCm39)	T21I	probably benign	Het
Tjp2	A	G	19: 24,073,996 (GRCm39)	V1097A	probably benign	Het
Ttc16	A	G	2: 32,661,939 (GRCm39)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,703,730 (GRCm39)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,633,195 (GRCm39)	V34M	probably damaging	Het
Vwf	A	C	6: 125,592,931 (GRCm39)	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,411,611 (GRCm39)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,203,307 (GRCm39)	F18L	probably benign	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
IGL02178:Gga1	APN	15	78,776,247 (GRCm39)	missense	probably benign	0.00
IGL02697:Gga1	APN	15	78,769,546 (GRCm39)	missense	probably damaging	1.00
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

2015-12-18