Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Gga1'

690847

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

068907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R9089 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

78761390-78778785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78773952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 325 (D325G)

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: D325G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: D325G

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 benign
Transcript: ENSMUST00000230192
AA Change: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,951 (GRCm39)	R118*	probably null	Het
Acadsb	T	C	7: 131,027,504 (GRCm39)	V68A	probably damaging	Het
Adgb	T	C	10: 10,318,432 (GRCm39)	R137G	probably benign	Het
Adgrl3	C	A	5: 81,808,291 (GRCm39)	N622K	possibly damaging	Het
Ager	C	A	17: 34,819,579 (GRCm39)	P366T	probably benign	Het
Barx2	C	A	9: 31,765,443 (GRCm39)	W184L	probably damaging	Het
Bckdha	A	C	7: 25,341,144 (GRCm39)	N72K	probably benign	Het
Blm	A	T	7: 80,162,867 (GRCm39)	D161E	probably damaging	Het
Ccdc121rt2	A	T	5: 112,598,757 (GRCm39)	R435W	probably damaging	Het
Cd96	G	T	16: 45,870,068 (GRCm39)	T467N	probably benign	Het
Cdk13	A	T	13: 17,978,444 (GRCm39)	S265T	unknown	Het
Col6a5	A	C	9: 105,766,142 (GRCm39)	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,097,983 (GRCm39)	V361D	probably damaging	Het
Cstf1	T	A	2: 172,217,807 (GRCm39)	M140K		Het
Ddx41	A	T	13: 55,683,424 (GRCm39)	S128T	probably benign	Het
Deaf1	A	T	7: 140,877,465 (GRCm39)	V554D	probably damaging	Het
Dido1	C	T	2: 180,303,293 (GRCm39)	S1537N	probably benign	Het
Dmwd	T	C	7: 18,811,980 (GRCm39)	S145P	probably damaging	Het
Eftud2	A	G	11: 102,759,971 (GRCm39)	S125P	probably benign	Het
Gm43518	T	C	5: 124,072,329 (GRCm39)		probably null	Het
Got1l1	A	T	8: 27,690,889 (GRCm39)	V53E	probably damaging	Het
Helz2	A	T	2: 180,881,433 (GRCm39)	C350S	probably damaging	Het
Ipo7	T	A	7: 109,643,666 (GRCm39)	F398I	possibly damaging	Het
Itga11	A	G	9: 62,678,662 (GRCm39)	N943S	probably damaging	Het
Itpa	T	A	2: 130,509,857 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kbtbd4	A	T	2: 90,737,909 (GRCm39)	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,535,506 (GRCm39)	F594L	probably damaging	Het
Klhdc4	C	T	8: 122,524,684 (GRCm39)	V446I	probably benign	Het
Klk1b1	A	G	7: 43,620,668 (GRCm39)	I253V	possibly damaging	Het
Kynu	T	A	2: 43,489,620 (GRCm39)	M135K	probably damaging	Het
Lgi1	T	C	19: 38,294,095 (GRCm39)	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,250,045 (GRCm39)	N288S	probably damaging	Het
Lrp6	G	C	6: 134,488,169 (GRCm39)	A309G	probably damaging	Het
Map2	T	A	1: 66,452,098 (GRCm39)	N329K	probably benign	Het
Med15	G	A	16: 17,473,421 (GRCm39)	P476L	unknown	Het
Muc16	A	T	9: 18,555,846 (GRCm39)	N3482K	unknown	Het
Nemf	A	C	12: 69,400,628 (GRCm39)	V149G	probably damaging	Het
Notch3	T	C	17: 32,370,521 (GRCm39)	S706G	probably benign	Het
Nphp4	T	C	4: 152,645,673 (GRCm39)	V1227A	possibly damaging	Het
Or1e31	A	G	11: 73,690,052 (GRCm39)	F177S	probably damaging	Het
Or2a52	A	T	6: 43,144,917 (GRCm39)	R308S	probably benign	Het
Or6c70	A	G	10: 129,710,488 (GRCm39)	L46P	probably damaging	Het
Parp2	A	G	14: 51,052,327 (GRCm39)	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,264 (GRCm39)	V555A	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,723,351 (GRCm39)	L1725R	probably damaging	Het
Reln	G	T	5: 22,130,198 (GRCm39)	D2704E	probably benign	Het
Sart3	C	A	5: 113,891,756 (GRCm39)	E405D	possibly damaging	Het
Scin	A	T	12: 40,131,703 (GRCm39)	L277*	probably null	Het
Sec62	T	A	3: 30,868,383 (GRCm39)	V204E	probably benign	Het
Serpina3a	T	C	12: 104,085,956 (GRCm39)	I137T	possibly damaging	Het
Sh3rf1	T	C	8: 61,825,613 (GRCm39)	M536T	probably benign	Het
Slc45a4	T	C	15: 73,457,953 (GRCm39)	H532R	probably damaging	Het
Svs5	A	G	2: 164,079,341 (GRCm39)	F189L	probably benign	Het
Synm	T	C	7: 67,408,766 (GRCm39)	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,147,215 (GRCm39)	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,201,929 (GRCm39)	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847 (GRCm39)	I85S	probably damaging	Het
Ush2a	T	A	1: 188,487,374 (GRCm39)	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,614,453 (GRCm39)	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884 (GRCm39)	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,296,742 (GRCm39)	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,725,292 (GRCm39)	D208V	probably damaging	Het
Zfp422	A	C	6: 116,604,086 (GRCm39)		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
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
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'- CTGACCCTAAGCAAAGCTGG -3'
(R):5'- AATAGGGAAGCCATGCTGCTC -3'

Sequencing Primer
(F):5'- GACCCTAAGCAAAGCTGGTTTATTG -3'
(R):5'- TCCACTGGCTTCCCAAAGGAG -3'

Posted On

2021-12-30