Mutagenetix > Incidental Mutation

Incidental Mutation 'R8852:Gga3'

675070

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

068674-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R8852 (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 115481244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 242 (D242G)

Ref Sequence

ENSEMBL: ENSMUSP00000019135 (fasta)

Gene Model

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

AlphaFold

Q8BMI3

Predicted Effect

probably benign
Transcript: ENSMUST00000019135
AA Change: D242G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
AA Change: D242G

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

possibly damaging
Transcript: ENSMUST00000106508
AA Change: D242G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
AA Change: D242G

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 benign
Transcript: ENSMUST00000156173
AA Change: D242G

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

SMART Domains

Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
AA Change: D242G

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,231,197 (GRCm39)	V985G	possibly damaging	Het
Acr	T	G	15: 89,458,057 (GRCm39)	M246R	probably damaging	Het
Adgrf5	G	T	17: 43,763,989 (GRCm39)	V1304L	possibly damaging	Het
Ago4	A	T	4: 126,387,043 (GRCm39)	D853E	probably benign	Het
Arvcf	C	A	16: 18,222,203 (GRCm39)	D790E	probably benign	Het
Atp8a2	A	C	14: 60,162,545 (GRCm39)	D725E	probably damaging	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Camkk2	T	C	5: 122,891,820 (GRCm39)	Y234C	probably damaging	Het
Ccdc106	A	G	7: 5,062,570 (GRCm39)	D192G	probably benign	Het
Ccm2l	T	C	2: 152,916,788 (GRCm39)	Y340H	probably damaging	Het
Chd1l	A	G	3: 97,477,685 (GRCm39)	F690S	probably benign	Het
Chuk	A	G	19: 44,076,407 (GRCm39)	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,576,703 (GRCm39)	S10T	probably benign	Het
Cnppd1	A	G	1: 75,113,063 (GRCm39)	S402P	probably damaging	Het
Cped1	A	G	6: 22,215,620 (GRCm39)	D718G	probably damaging	Het
Crtc1	A	G	8: 70,840,805 (GRCm39)	S474P	probably damaging	Het
Dcpp3	G	T	17: 24,138,123 (GRCm39)	E94*	probably null	Het
Dhx38	A	T	8: 110,289,361 (GRCm39)	L13*	probably null	Het
Dmbt1	T	C	7: 130,642,853 (GRCm39)	Y120H	unknown	Het
Fntb	T	A	12: 76,934,826 (GRCm39)	V201E	possibly damaging	Het
Gsx2	T	C	5: 75,236,996 (GRCm39)	M192T	possibly damaging	Het
Hif3a	A	T	7: 16,774,912 (GRCm39)	M562K	probably benign	Het
Irf5	G	A	6: 29,535,997 (GRCm39)	R337H	probably damaging	Het
Kcnmb3	A	G	3: 32,526,624 (GRCm39)	V189A	possibly damaging	Het
Letmd1	A	G	15: 100,373,247 (GRCm39)	T241A	probably benign	Het
Lrrc14b	T	A	13: 74,509,408 (GRCm39)	D333V	probably damaging	Het
Meaf6	T	A	4: 124,979,990 (GRCm39)	L48Q	probably damaging	Het
Miip	T	A	4: 147,950,839 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,569,461 (GRCm39)	T236A	possibly damaging	Het
Myh4	T	A	11: 67,132,335 (GRCm39)	I155N	probably damaging	Het
Obscn	C	T	11: 58,898,440 (GRCm39)	R6607Q	unknown	Het
Or2ak7	C	T	11: 58,574,966 (GRCm39)	T89I	probably benign	Het
Or5v1	G	A	17: 37,810,321 (GRCm39)	V260M	probably benign	Het
Otof	T	C	5: 30,529,044 (GRCm39)	N1788S	possibly damaging	Het
Psapl1	T	C	5: 36,362,314 (GRCm39)	L302S	probably damaging	Het
Rdh8	A	C	9: 20,734,021 (GRCm39)	N69T	probably benign	Het
Ryr3	T	C	2: 112,624,844 (GRCm39)	E2212G	probably damaging	Het
Septin7	A	T	9: 25,163,980 (GRCm39)	N16Y	possibly damaging	Het
Slc22a17	A	T	14: 55,146,436 (GRCm39)	L60Q	probably damaging	Het
Snrnp200	T	C	2: 127,060,349 (GRCm39)	I531T	probably damaging	Het
Ssh3	A	T	19: 4,317,992 (GRCm39)	V41E	probably damaging	Het
Tars1	G	T	15: 11,393,348 (GRCm39)	N115K	probably benign	Het
Tomm6	G	C	17: 47,998,850 (GRCm39)	F34L	possibly damaging	Het
Txnrd2	G	A	16: 18,259,601 (GRCm39)	V173M	possibly damaging	Het
Uba6	T	A	5: 86,289,454 (GRCm39)	I450F	possibly damaging	Het
Vmn2r95	G	T	17: 18,664,113 (GRCm39)	S516I	possibly damaging	Het
Vps4b	A	G	1: 106,710,414 (GRCm39)	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,706,019 (GRCm39)	H352L	probably damaging	Het
Zfp521	T	C	18: 14,072,150 (GRCm39)	D30G	probably benign	Het
Zic2	A	T	14: 122,713,530 (GRCm39)	H148L	possibly 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
R6967:Gga3	UTSW	11	115,482,102 (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
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'- TGGAGCACATTATCAGGGTACTG -3'
(R):5'- CTGCCTGGTTGTTGAAAGAC -3'

Sequencing Primer
(F):5'- ATCAGGGTACTGTATCTGAGTCACAG -3'
(R):5'- AGACAAGCTAAGTGACCTTGC -3'

Posted On

2021-07-15