Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Gga3'

533549

Institutional Source

Beutler Lab

Gene Symbol

Gga3

Ensembl Gene

ENSMUSG00000020740

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115584255-115604051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115585762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 709 (F709L)

Ref Sequence

ENSEMBL: ENSMUSP00000019135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000021085] [ENSMUST00000106508] [ENSMUST00000140986] [ENSMUST00000144473] [ENSMUST00000156173]

AlphaFold

Q8BMI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000019135
AA Change: F709L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
AA Change: F709L

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 benign
Transcript: ENSMUST00000021085

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	53	606	1.2e-181	PFAM
low complexity region	635	649	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106508
AA Change: F631L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
AA Change: F631L

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: ENSMUST00000140986

SMART Domains

Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	21	280	5.9e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144473

SMART Domains

Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	1	170	3e-56	PFAM
Pfam:Nucleopor_Nup85	168	274	1.1e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156173

SMART Domains

Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740

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

Meta Mutation Damage Score

0.5292

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	probably benign	Het

Other mutations in Gga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Gga3	APN	11	115591741	missense	probably damaging	1.00
IGL01449:Gga3	APN	11	115589102	missense	probably damaging	1.00
IGL03343:Gga3	APN	11	115592486	missense	probably damaging	0.99
IGL03390:Gga3	APN	11	115586994	critical splice donor site	probably null
R0049:Gga3	UTSW	11	115587089	nonsense	probably null
R0133:Gga3	UTSW	11	115588979	splice site	probably benign
R0411:Gga3	UTSW	11	115587433	missense	probably damaging	1.00
R0432:Gga3	UTSW	11	115590524	missense	probably damaging	1.00
R0865:Gga3	UTSW	11	115592459	missense	probably damaging	1.00
R3852:Gga3	UTSW	11	115587542	missense	probably benign	0.04
R4869:Gga3	UTSW	11	115586285	intron	probably benign
R4878:Gga3	UTSW	11	115591321	missense	probably damaging	1.00
R5380:Gga3	UTSW	11	115588431	missense	probably damaging	1.00
R5527:Gga3	UTSW	11	115587436	missense	probably damaging	0.98
R6545:Gga3	UTSW	11	115587169	missense	possibly damaging	0.71
R6967:Gga3	UTSW	11	115591276	missense	probably damaging	1.00
R8311:Gga3	UTSW	11	115587008	missense	probably benign	0.19
R8670:Gga3	UTSW	11	115587716	missense	probably benign	0.08
R8837:Gga3	UTSW	11	115588479	missense	probably benign
R8852:Gga3	UTSW	11	115590418	missense	probably benign	0.08
R8860:Gga3	UTSW	11	115590418	missense	probably benign	0.08
R9587:Gga3	UTSW	11	115590891	missense	probably damaging	1.00
Z1176:Gga3	UTSW	11	115587603	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGACAGGTCCTTTTAGGGGC -3'
(R):5'- CAAGATGGATCCTTCCTGGC -3'

Sequencing Primer
(F):5'- TCCTTTTAGGGGCCCAGGAAG -3'
(R):5'- AGATGGATCCTTCCTGGCAGAATC -3'

Posted On

2018-09-12