Mutagenetix > Incidental Mutation

Incidental Mutation 'R9038:Gga1'

687564

Institutional Source

Beutler Lab

Gene Symbol

Gga1

Ensembl Gene

ENSMUSG00000033128

Gene Name

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

Synonyms

4930406E12Rik

MMRRC Submission

068866-MU

Accession Numbers

Essential gene?

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

Stock #

R9038 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78761390-78778785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78768321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 114 (K114E)

Ref Sequence

ENSEMBL: ENSMUSP00000035992 (fasta)

Gene Model

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

AlphaFold

Q8R0H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041587
AA Change: K114E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: K114E

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

probably damaging
Transcript: ENSMUST00000230192
AA Change: K114E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,895,651 (GRCm39)	C382S	probably benign	Het
Abcf2	A	G	5: 24,776,191 (GRCm39)	V296A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Acvrl1	A	G	15: 101,039,011 (GRCm39)	D436G	possibly damaging	Het
Adamts7	A	G	9: 90,056,692 (GRCm39)	I254V		Het
Arhgef18	A	G	8: 3,503,257 (GRCm39)	I888V	probably benign	Het
Arhgef40	C	A	14: 52,235,072 (GRCm39)	A1083D	probably damaging	Het
Arnt2	C	A	7: 83,954,059 (GRCm39)	A275S	probably benign	Het
Brd10	A	T	19: 29,731,900 (GRCm39)	Y371N	possibly damaging	Het
Brip1	C	T	11: 86,080,599 (GRCm39)	V156I	probably benign	Het
Camk4	C	A	18: 33,291,953 (GRCm39)	C204*	probably null	Het
Cenpe	A	G	3: 134,923,797 (GRCm39)	T161A	probably benign	Het
Chd2	G	A	7: 73,105,358 (GRCm39)	H1256Y	probably damaging	Het
Chd9	G	A	8: 91,716,233 (GRCm39)	V936I	unknown	Het
D6Ertd527e	A	G	6: 87,089,233 (GRCm39)	*465W	probably null	Het
Dcaf11	T	A	14: 55,803,114 (GRCm39)	D309E	probably damaging	Het
Dtna	A	G	18: 23,743,553 (GRCm39)	N373S	probably benign	Het
Eif2b2	A	G	12: 85,266,897 (GRCm39)	D104G	probably benign	Het
Fras1	A	T	5: 96,874,742 (GRCm39)	T2302S	probably benign	Het
Gm12887	A	G	4: 121,473,616 (GRCm39)		probably null	Het
Gss	A	T	2: 155,406,794 (GRCm39)	I396N		Het
H2-M5	T	C	17: 37,299,422 (GRCm39)	I199M	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	G	T	5: 31,441,399 (GRCm39)	T245K	possibly damaging	Het
Ift70a2	G	A	2: 75,808,215 (GRCm39)	T99I	probably benign	Het
Iqck	A	G	7: 118,498,881 (GRCm39)	D173G	probably damaging	Het
Itga11	A	G	9: 62,675,039 (GRCm39)	N857S	possibly damaging	Het
Kdm1b	C	A	13: 47,202,770 (GRCm39)	S68R	probably benign	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Myo6	G	T	9: 80,162,285 (GRCm39)	V341L	unknown	Het
Nfkbie	C	A	17: 45,870,183 (GRCm39)	A176E	probably damaging	Het
Nlrp2	C	T	7: 5,330,478 (GRCm39)	M639I	probably benign	Het
Or10g3	T	A	14: 52,609,716 (GRCm39)	S265C	probably damaging	Het
Or10j2	T	A	1: 173,098,147 (GRCm39)	I135N	possibly damaging	Het
Or56a41	T	C	7: 104,740,433 (GRCm39)	I138V	probably benign	Het
Or5w16	A	G	2: 87,577,125 (GRCm39)	N195S	probably damaging	Het
Or6c215	T	C	10: 129,637,564 (GRCm39)	T277A	probably damaging	Het
Or8k40	A	T	2: 86,584,354 (GRCm39)	S243T	probably damaging	Het
Pak4	G	A	7: 28,264,263 (GRCm39)	T213M	probably damaging	Het
Pan2	C	T	10: 128,153,810 (GRCm39)	Q1003*	probably null	Het
Pde4c	G	C	8: 71,179,550 (GRCm39)	V34L	probably benign	Het
Pi4k2a	G	A	19: 42,089,235 (GRCm39)	V199M	probably damaging	Het
Platr25	T	C	13: 62,848,007 (GRCm39)	E285G	probably damaging	Het
Polr3e	T	C	7: 120,536,906 (GRCm39)	V356A	possibly damaging	Het
Prcp	A	G	7: 92,567,017 (GRCm39)	D243G	probably benign	Het
Qsox2	T	C	2: 26,115,246 (GRCm39)	T161A	probably damaging	Het
Rhoj	A	G	12: 75,355,700 (GRCm39)	T35A		Het
Scn9a	T	A	2: 66,325,147 (GRCm39)	M1336L	probably damaging	Het
Sel1l2	G	T	2: 140,117,384 (GRCm39)	N162K	probably damaging	Het
Slc15a3	T	C	19: 10,820,866 (GRCm39)	L161P	probably damaging	Het
Slc4a11	G	A	2: 130,533,663 (GRCm39)	A100V	probably damaging	Het
Sp1	A	G	15: 102,316,320 (GRCm39)	S41G	probably benign	Het
Tbx15	A	G	3: 99,222,085 (GRCm39)	M183V	probably benign	Het
Tfip11	A	G	5: 112,481,214 (GRCm39)	T397A	possibly damaging	Het
Themis	T	C	10: 28,657,749 (GRCm39)	S259P	probably damaging	Het
Tm7sf2	T	C	19: 6,117,172 (GRCm39)	Y77C	probably damaging	Het
Tnnt2	C	A	1: 135,774,484 (GRCm39)	P81H	possibly damaging	Het
Trpc7	T	C	13: 57,035,886 (GRCm39)	T16A	probably benign	Het
Ttn	T	A	2: 76,745,056 (GRCm39)	Y5331F	possibly damaging	Het
Virma	A	G	4: 11,526,922 (GRCm39)	Q1057R	possibly damaging	Het
Vmn2r118	A	T	17: 55,918,649 (GRCm39)	F81Y	probably damaging	Het
Vmn2r88	T	C	14: 51,651,490 (GRCm39)	V268A		Het
Vmn2r93	T	A	17: 18,524,471 (GRCm39)	M155K	probably benign	Het
Vps13b	G	T	15: 35,875,931 (GRCm39)	C2772F	possibly damaging	Het
Wdr90	T	C	17: 26,076,200 (GRCm39)	N86D		Het
Zbtb34	T	C	2: 33,301,248 (GRCm39)	D431G	probably damaging	Het
Zc3h3	G	A	15: 75,711,237 (GRCm39)	P408L	probably benign	Het
Zfp345	A	G	2: 150,313,864 (GRCm39)	Y558H	probably benign	Het
Zfp583	G	A	7: 6,319,543 (GRCm39)	P490S	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AACAGTGTAGTGAGAGCCCC -3'
(R):5'- TCTTGAGACAGTAAAGGCAGACC -3'

Sequencing Primer
(F):5'- GTAGTGAGAGCCCCATCTCTTG -3'
(R):5'- CAGACCTTGCTGGCAGAAG -3'

Posted On

2021-11-19