Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Gga3'

542071

Institutional Source

Beutler Lab

Gene Symbol

Gga3

Ensembl Gene

ENSMUSG00000020740

Gene Name

golgi associated, gamma adaptin ear containing, ARF binding protein 3

Synonyms

C230037M19Rik

MMRRC Submission

045077-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R6967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115475081-115494877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115482102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 172 (E172G)

Ref Sequence

ENSEMBL: ENSMUSP00000102117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000106508] [ENSMUST00000125097] [ENSMUST00000156173]

AlphaFold

Q8BMI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000019135
AA Change: E172G

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

SMART Domains

Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
AA Change: E172G

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	222	299	1.7e-20	PFAM
low complexity region	334	369	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC
low complexity region	455	471	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	532	554	N/A	INTRINSIC
Alpha_adaptinC2	586	710	6.09e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106508
AA Change: E172G

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

SMART Domains

Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
AA Change: E172G

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	206	307	1.3e-32	PFAM
low complexity region	377	393	N/A	INTRINSIC
low complexity region	405	420	N/A	INTRINSIC
low complexity region	454	476	N/A	INTRINSIC
Alpha_adaptinC2	508	632	6.09e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125097

SMART Domains

Protein: ENSMUSP00000118024
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
Pfam:VHS	3	106	3.4e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156173
AA Change: E172G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
AA Change: E172G

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	206	307	7.3e-32	PFAM
low complexity region	334	369	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC
low complexity region	455	471	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	532	554	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

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) family. This family includes 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 have been identified in this gene. [provided by RefSeq, Feb 2010]
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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 103,708,212 (GRCm39)	I199T	probably benign	Het
Adam23	T	G	1: 63,602,495 (GRCm39)		probably null	Het
Adamts8	C	T	9: 30,865,787 (GRCm39)	T445I	probably benign	Het
Ahi1	T	C	10: 20,864,524 (GRCm39)	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,706,130 (GRCm39)	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,998 (GRCm39)	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,994,625 (GRCm39)	P262L	probably benign	Het
Chrna2	A	T	14: 66,388,398 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,797,420 (GRCm39)	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dach1	A	T	14: 98,140,633 (GRCm39)	S456R	probably damaging	Het
Dhx37	T	C	5: 125,499,231 (GRCm39)	D659G	probably benign	Het
Dscaml1	T	C	9: 45,585,821 (GRCm39)	V586A	probably damaging	Het
Efhb	G	T	17: 53,770,196 (GRCm39)	L38I	probably benign	Het
Fbxw10	T	C	11: 62,738,429 (GRCm39)	S108P	possibly damaging	Het
Fmnl2	A	G	2: 52,987,344 (GRCm39)	N313S	possibly damaging	Het
Ggta1	A	G	2: 35,292,734 (GRCm39)	V191A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hcn4	C	T	9: 58,731,228 (GRCm39)	T145M	unknown	Het
Kirrel3	T	C	9: 34,946,202 (GRCm39)	S654P	probably damaging	Het
Klrb1	A	T	6: 128,687,486 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,025,339 (GRCm39)	D166V	probably damaging	Het
Lipk	T	A	19: 34,017,794 (GRCm39)	Y277*	probably null	Het
Ly6g	A	C	15: 75,030,398 (GRCm39)	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,392,191 (GRCm39)	Q4L	probably benign	Het
Nfya	A	C	17: 48,699,932 (GRCm39)		probably benign	Het
Nub1	T	C	5: 24,913,709 (GRCm39)	V530A	probably benign	Het
Ocln	A	T	13: 100,675,796 (GRCm39)	Y232*	probably null	Het
Or10ag59	A	G	2: 87,405,857 (GRCm39)	N143S	possibly damaging	Het
Or2r2	A	G	6: 42,463,947 (GRCm39)	F60S	probably damaging	Het
Or4d2b	C	T	11: 87,780,324 (GRCm39)	V133I	probably benign	Het
Or5b114-ps1	A	G	19: 13,352,815 (GRCm39)	H163R	unknown	Het
Otogl	G	A	10: 107,649,911 (GRCm39)	A1148V	probably benign	Het
Paqr5	C	T	9: 61,880,113 (GRCm39)	W46*	probably null	Het
Psd2	C	A	18: 36,113,385 (GRCm39)	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,612,311 (GRCm39)	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sbk2	C	T	7: 4,967,146 (GRCm39)		probably null	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sspo	A	C	6: 48,466,728 (GRCm39)	D4072A	probably benign	Het
St6galnac3	T	C	3: 152,912,345 (GRCm39)	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,513,202 (GRCm39)	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,834,847 (GRCm39)	Y90C	probably benign	Het
Taok2	A	G	7: 126,469,564 (GRCm39)	I1088T	probably damaging	Het
Tasor2	A	T	13: 3,624,819 (GRCm39)	D1710E	probably benign	Het
Tmc7	T	A	7: 118,146,901 (GRCm39)	T459S	probably benign	Het
Tmed11	T	C	5: 108,926,780 (GRCm39)	Y164C	probably damaging	Het
Tmem275	A	G	4: 115,755,491 (GRCm39)	T97A	unknown	Het
Tmem63b	T	C	17: 45,977,558 (GRCm39)	E356G	probably benign	Het
Ttc13	T	C	8: 125,415,357 (GRCm39)	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,490,544 (GRCm39)	K121*	probably null	Het
Zc3h12d	A	T	10: 7,715,644 (GRCm39)	S16C	probably damaging	Het
Zfp292	A	T	4: 34,807,812 (GRCm39)	M1744K	probably damaging	Het

Other mutations in Gga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Gga3	APN	11	115,482,567 (GRCm39)	missense	probably damaging	1.00
IGL01449:Gga3	APN	11	115,479,928 (GRCm39)	missense	probably damaging	1.00
IGL03343:Gga3	APN	11	115,483,312 (GRCm39)	missense	probably damaging	0.99
IGL03390:Gga3	APN	11	115,477,820 (GRCm39)	critical splice donor site	probably null
R0049:Gga3	UTSW	11	115,477,915 (GRCm39)	nonsense	probably null
R0133:Gga3	UTSW	11	115,479,805 (GRCm39)	splice site	probably benign
R0411:Gga3	UTSW	11	115,478,259 (GRCm39)	missense	probably damaging	1.00
R0432:Gga3	UTSW	11	115,481,350 (GRCm39)	missense	probably damaging	1.00
R0865:Gga3	UTSW	11	115,483,285 (GRCm39)	missense	probably damaging	1.00
R3852:Gga3	UTSW	11	115,478,368 (GRCm39)	missense	probably benign	0.04
R4869:Gga3	UTSW	11	115,477,111 (GRCm39)	intron	probably benign
R4878:Gga3	UTSW	11	115,482,147 (GRCm39)	missense	probably damaging	1.00
R5380:Gga3	UTSW	11	115,479,257 (GRCm39)	missense	probably damaging	1.00
R5527:Gga3	UTSW	11	115,478,262 (GRCm39)	missense	probably damaging	0.98
R6545:Gga3	UTSW	11	115,477,995 (GRCm39)	missense	possibly damaging	0.71
R6805:Gga3	UTSW	11	115,476,588 (GRCm39)	missense	probably damaging	1.00
R8311:Gga3	UTSW	11	115,477,834 (GRCm39)	missense	probably benign	0.19
R8670:Gga3	UTSW	11	115,478,542 (GRCm39)	missense	probably benign	0.08
R8837:Gga3	UTSW	11	115,479,305 (GRCm39)	missense	probably benign
R8852:Gga3	UTSW	11	115,481,244 (GRCm39)	missense	probably benign	0.08
R8860:Gga3	UTSW	11	115,481,244 (GRCm39)	missense	probably benign	0.08
R9587:Gga3	UTSW	11	115,481,717 (GRCm39)	missense	probably damaging	1.00
Z1176:Gga3	UTSW	11	115,478,429 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAGGGGATGGCATGTACC -3'
(R):5'- CTCATCACAGGGATTTGGCC -3'

Sequencing Primer
(F):5'- AAGACCCCACTTCATGCTTGCTAG -3'
(R):5'- CCCTTGTTGTGTGAAGGACAG -3'

Posted On

2018-11-28