Mutagenetix > Incidental Mutation

Incidental Mutation 'R9483:Gcc1'

716367

Institutional Source

Beutler Lab

Gene Symbol

Gcc1

Ensembl Gene

ENSMUSG00000029708

Gene Name

golgi coiled coil 1

Synonyms

4932417P04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R9483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28416602-28421723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28418089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 748 (A748D)

Ref Sequence

ENSEMBL: ENSMUSP00000067395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064377] [ENSMUST00000090511] [ENSMUST00000170767]

AlphaFold

Q9D4H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000064377
AA Change: A748D

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

SMART Domains

Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: A748D

Domain	Start	End	E-Value	Type
coiled coil region	13	61	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
coiled coil region	156	315	N/A	INTRINSIC
low complexity region	408	418	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
Blast:H2B	492	590	3e-8	BLAST
low complexity region	613	631	N/A	INTRINSIC
coiled coil region	659	701	N/A	INTRINSIC
Grip	719	766	8.28e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000090511
AA Change: A748D

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

SMART Domains

Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: A748D

Domain	Start	End	E-Value	Type
coiled coil region	13	61	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
coiled coil region	156	315	N/A	INTRINSIC
low complexity region	408	418	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
Blast:H2B	492	590	3e-8	BLAST
low complexity region	613	631	N/A	INTRINSIC
coiled coil region	659	701	N/A	INTRINSIC
Grip	719	766	8.28e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165455

SMART Domains

Protein: ENSMUSP00000132415
Gene: ENSMUSG00000029708

Domain	Start	End	E-Value	Type
coiled coil region	5	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170767

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,010 (GRCm39)	M334K	probably benign	Het
Abca1	A	T	4: 53,060,351 (GRCm39)	I1525N	probably benign	Het
Abca4	A	T	3: 121,879,275 (GRCm39)	I398F		Het
Acbd3	A	G	1: 180,572,721 (GRCm39)	D327G	probably benign	Het
Acsm3	A	G	7: 119,383,166 (GRCm39)	T544A	probably damaging	Het
Atp11a	C	T	8: 12,901,087 (GRCm39)	T972M	probably damaging	Het
Cbfb	C	T	8: 105,929,123 (GRCm39)	R147*	probably null	Het
Ccdc17	G	T	4: 116,454,144 (GRCm39)	R54L	probably benign	Het
Cracdl	T	G	1: 37,670,496 (GRCm39)	E148A	probably damaging	Het
Cuedc2	G	T	19: 46,319,399 (GRCm39)	A223E	probably benign	Het
Cul5	T	C	9: 53,532,474 (GRCm39)	I787V	probably benign	Het
D430041D05Rik	T	A	2: 104,087,563 (GRCm39)	H471L	probably benign	Het
Ddx39a	T	C	8: 84,448,916 (GRCm39)	Y264H	probably benign	Het
Dlgap3	C	A	4: 127,127,665 (GRCm39)	R778S	probably damaging	Het
Esrrg	T	C	1: 187,930,848 (GRCm39)	V313A	probably damaging	Het
Fam124a	T	C	14: 62,844,100 (GRCm39)	I536T	probably damaging	Het
Fbxo21	T	C	5: 118,127,272 (GRCm39)	F275L	possibly damaging	Het
Gabrg1	C	A	5: 70,999,558 (GRCm39)	G2V	possibly damaging	Het
Gjb6	T	C	14: 57,361,511 (GRCm39)	D250G	probably benign	Het
Gm44501	A	T	17: 40,889,872 (GRCm39)	K129*	probably null	Het
Hmcn2	T	G	2: 31,320,375 (GRCm39)	L3952R		Het
Hpd	A	G	5: 123,312,535 (GRCm39)	I278T	probably damaging	Het
Igsf3	T	A	3: 101,346,904 (GRCm39)	F613Y	probably damaging	Het
Igsf3	T	C	3: 101,346,817 (GRCm39)	F584S	probably damaging	Het
Ik	A	G	18: 36,886,635 (GRCm39)	D369G	probably benign	Het
Ikbke	A	G	1: 131,198,719 (GRCm39)	L365P	probably damaging	Het
Il22ra2	A	T	10: 19,508,542 (GRCm39)	Q190L	possibly damaging	Het
Itga6	T	C	2: 71,679,834 (GRCm39)	V1033A	probably benign	Het
Kif18a	T	C	2: 109,120,032 (GRCm39)	Y112H	probably damaging	Het
Krt75	T	C	15: 101,482,238 (GRCm39)	H10R	probably benign	Het
L3mbtl1	T	A	2: 162,790,734 (GRCm39)	L93H	probably benign	Het
Lrfn1	G	A	7: 28,158,183 (GRCm39)	C34Y	probably damaging	Het
Lrrc47	A	T	4: 154,101,920 (GRCm39)	I396F	probably damaging	Het
Mgat3	T	A	15: 80,095,641 (GRCm39)	V156E	probably benign	Het
Mtus2	A	G	5: 148,232,300 (GRCm39)	D1120G	possibly damaging	Het
Muc5ac	G	T	7: 141,365,465 (GRCm39)	E2700*	probably null	Het
Nxpe5	A	T	5: 138,228,591 (GRCm39)		probably benign	Het
Or51v15-ps1	T	C	7: 103,278,931 (GRCm39)	T79A	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhga4	T	A	18: 37,819,746 (GRCm39)	S432T	possibly damaging	Het
Pdk4	T	A	6: 5,486,716 (GRCm39)	M353L	probably benign	Het
Ppp1r13b	T	A	12: 111,800,210 (GRCm39)	K645N	probably benign	Het
Ppt1	A	T	4: 122,751,367 (GRCm39)	D288V	possibly damaging	Het
Prkcb	A	G	7: 122,181,663 (GRCm39)	Y417C	probably damaging	Het
Prss22	A	G	17: 24,215,721 (GRCm39)	I67T	probably damaging	Het
Rab29	T	C	1: 131,795,508 (GRCm39)	V40A	possibly damaging	Het
Rae1	T	C	2: 172,849,941 (GRCm39)		probably null	Het
Rasa3	C	T	8: 13,630,033 (GRCm39)		probably null	Het
Rasgrp3	A	G	17: 75,807,717 (GRCm39)	D258G	probably benign	Het
Rcc1	T	A	4: 132,062,808 (GRCm39)	T208S	probably benign	Het
Rgs3	C	A	4: 62,575,354 (GRCm39)	Y580*	probably null	Het
Rpe65	C	T	3: 159,328,318 (GRCm39)	P405S	probably damaging	Het
Rsf1	GGCGGC	GGCGGCGGCAGCGGC	7: 97,229,137 (GRCm39)		probably benign	Het
Rsph4a	A	G	10: 33,790,418 (GRCm39)	E669G	probably damaging	Het
Rusc1	A	T	3: 88,994,113 (GRCm39)	V964E	probably benign	Het
Rusc2	A	G	4: 43,415,897 (GRCm39)	N401S	probably damaging	Het
Slc10a1	G	T	12: 81,002,864 (GRCm39)	T258K	probably damaging	Het
Slc5a9	A	G	4: 111,747,418 (GRCm39)	L323P	probably damaging	Het
Slc6a17	T	A	3: 107,378,772 (GRCm39)	I637F	possibly damaging	Het
Slc8a2	A	G	7: 15,886,780 (GRCm39)	E641G	possibly damaging	Het
Sptbn2	G	T	19: 4,789,974 (GRCm39)	A1321S	probably damaging	Het
Ssh2	G	T	11: 77,283,976 (GRCm39)	A77S	possibly damaging	Het
St13	G	T	15: 81,250,587 (GRCm39)	N316K	probably damaging	Het
Taf10	A	G	7: 105,393,062 (GRCm39)	M121T	probably benign	Het
Tcta	T	C	9: 108,182,942 (GRCm39)	T68A	probably damaging	Het
Timd2	A	T	11: 46,577,889 (GRCm39)	Y81N	probably damaging	Het
Tln2	T	C	9: 67,299,769 (GRCm39)	E161G	probably damaging	Het
Tmed10	T	C	12: 85,397,621 (GRCm39)	I123V	probably benign	Het
Ttf1	T	C	2: 28,969,492 (GRCm39)		probably null	Het
Tubg1	A	G	11: 101,016,886 (GRCm39)	D396G	probably damaging	Het
Uhmk1	A	G	1: 170,034,913 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,103,221 (GRCm39)	A922T	probably benign	Het
Usp24	T	A	4: 106,219,379 (GRCm39)	V525E	probably damaging	Het
Usp28	C	A	9: 48,947,037 (GRCm39)	Q823K	probably damaging	Het
Vldlr	A	T	19: 27,224,031 (GRCm39)	I764F	probably benign	Het
Vmn2r88	T	C	14: 51,648,641 (GRCm39)	Y62H		Het
Zfp423	T	A	8: 88,507,725 (GRCm39)	N873I	possibly damaging	Het

Other mutations in Gcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Gcc1	APN	6	28,421,197 (GRCm39)	missense	possibly damaging	0.89
IGL01538:Gcc1	APN	6	28,421,047 (GRCm39)	missense	probably damaging	1.00
IGL02248:Gcc1	APN	6	28,418,513 (GRCm39)	missense	probably damaging	1.00
IGL02476:Gcc1	APN	6	28,420,468 (GRCm39)	missense	probably benign
IGL02725:Gcc1	APN	6	28,418,458 (GRCm39)	missense	probably benign	0.02
IGL02733:Gcc1	APN	6	28,420,661 (GRCm39)	nonsense	probably null
IGL03065:Gcc1	APN	6	28,418,401 (GRCm39)	missense	possibly damaging	0.95
R0049:Gcc1	UTSW	6	28,421,268 (GRCm39)	missense	probably benign	0.01
R0049:Gcc1	UTSW	6	28,421,268 (GRCm39)	missense	probably benign	0.01
R0197:Gcc1	UTSW	6	28,420,615 (GRCm39)	missense	probably damaging	0.99
R0631:Gcc1	UTSW	6	28,421,009 (GRCm39)	missense	probably damaging	1.00
R1109:Gcc1	UTSW	6	28,419,166 (GRCm39)	missense	probably damaging	0.98
R1677:Gcc1	UTSW	6	28,419,163 (GRCm39)	missense	probably benign
R1698:Gcc1	UTSW	6	28,421,110 (GRCm39)	missense	possibly damaging	0.73
R2238:Gcc1	UTSW	6	28,420,462 (GRCm39)	missense	probably benign
R2267:Gcc1	UTSW	6	28,418,498 (GRCm39)	missense	probably benign
R4512:Gcc1	UTSW	6	28,419,208 (GRCm39)	missense	probably benign	0.08
R5237:Gcc1	UTSW	6	28,420,651 (GRCm39)	missense	probably benign	0.27
R5687:Gcc1	UTSW	6	28,419,232 (GRCm39)	splice site	probably null
R5829:Gcc1	UTSW	6	28,419,690 (GRCm39)	unclassified	probably benign
R5993:Gcc1	UTSW	6	28,424,851 (GRCm39)	splice site	probably null
R6024:Gcc1	UTSW	6	28,419,299 (GRCm39)	missense	probably benign	0.00
R6238:Gcc1	UTSW	6	28,420,742 (GRCm39)	missense	probably damaging	1.00
R7266:Gcc1	UTSW	6	28,417,995 (GRCm39)	makesense	probably null
R7822:Gcc1	UTSW	6	28,418,785 (GRCm39)	missense	probably damaging	1.00
R7981:Gcc1	UTSW	6	28,419,140 (GRCm39)	missense	probably benign	0.44
R8498:Gcc1	UTSW	6	28,418,029 (GRCm39)	missense	probably benign
R8530:Gcc1	UTSW	6	28,420,730 (GRCm39)	missense	probably damaging	1.00
R8688:Gcc1	UTSW	6	28,418,739 (GRCm39)	nonsense	probably null
R9031:Gcc1	UTSW	6	28,418,182 (GRCm39)	missense	probably damaging	0.99
R9233:Gcc1	UTSW	6	28,418,710 (GRCm39)	missense	probably damaging	0.99
R9242:Gcc1	UTSW	6	28,420,375 (GRCm39)	missense	possibly damaging	0.92
R9626:Gcc1	UTSW	6	28,418,917 (GRCm39)	missense	probably damaging	1.00
R9660:Gcc1	UTSW	6	28,420,544 (GRCm39)	missense	probably damaging	0.96
R9728:Gcc1	UTSW	6	28,420,544 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTGCTCTGAGTTCAACACAGTG -3'
(R):5'- TAGAAGCCCATCAGCTGCAG -3'

Sequencing Primer
(F):5'- AGAGGCCGTAGAAATCCGAGC -3'
(R):5'- CCCATCAGCTGCAGGAAAGG -3'

Posted On

2022-07-18