Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Gcc1'

564923

Institutional Source

Beutler Lab

Gene Symbol

Gcc1

Ensembl Gene

ENSMUSG00000029708

Gene Name

golgi coiled coil 1

Synonyms

4932417P04Rik

MMRRC Submission

045389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28416602-28421723 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 28417995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 779 (*779C)

Ref Sequence

ENSEMBL: ENSMUSP00000067395 (fasta)

Gene Model

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

AlphaFold

Q9D4H2

Predicted Effect

probably null
Transcript: ENSMUST00000064377
AA Change: *779C

SMART Domains

Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: *779C

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 null
Transcript: ENSMUST00000090511
AA Change: *779C

SMART Domains

Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: *779C

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Agfg1	G	T	1: 82,859,966 (GRCm39)	V278L	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Kctd17	A	T	15: 78,317,214 (GRCm39)	I117F	probably damaging	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Or1i2	A	G	10: 78,448,448 (GRCm39)	V9A	probably benign	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Synpo	A	G	18: 60,762,631 (GRCm39)	F92S	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,829,684 (GRCm39)	D173G	possibly damaging	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zdhhc6	G	T	19: 55,292,932 (GRCm39)	N271K	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	probably benign	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
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
R9483:Gcc1	UTSW	6	28,418,089 (GRCm39)	missense	probably damaging	1.00
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'- GCTGTCTCAATACTGGCAGTACC -3'
(R):5'- GGAGCCAACCTGGAATATCTC -3'

Sequencing Primer
(F):5'- GTCTCAATACTGGCAGTACCCTGAG -3'
(R):5'- TCAAAAACATCATCTACCGCTTCCTG -3'

Posted On

2019-06-26