Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Gcc1'

192398

Institutional Source

Beutler Lab

Gene Symbol

Gcc1

Ensembl Gene

ENSMUSG00000029708

Gene Name

golgi coiled coil 1

Synonyms

4932417P04Rik

MMRRC Submission

039731-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28416091-28428390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28421111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 69 (L69P)

Ref Sequence

ENSEMBL: ENSMUSP00000087997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020717] [ENSMUST00000064377] [ENSMUST00000090511] [ENSMUST00000169841] [ENSMUST00000170767]

AlphaFold

Q9D4H2

Predicted Effect

probably benign
Transcript: ENSMUST00000020717

SMART Domains

Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440

Domain	Start	End	E-Value	Type
ARF	1	180	5.83e-121	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064377
AA Change: L69P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: L69P

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

possibly damaging
Transcript: ENSMUST00000090511
AA Change: L69P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: L69P

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: ENSMUST00000169841

SMART Domains

Protein: ENSMUSP00000127281
Gene: ENSMUSG00000020440

Domain	Start	End	E-Value	Type
ARF	1	180	5.83e-121	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202028

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,645,158	E340A	possibly damaging	Het
Abca13	A	G	11: 9,314,507	D2963G	probably benign	Het
Actn3	T	C	19: 4,862,207	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 27,103,127	E723G	possibly damaging	Het
Agrn	G	T	4: 156,166,558	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,614,521	A426T	probably benign	Het
Atg9b	C	A	5: 24,388,188	G406C	probably damaging	Het
BC005561	C	T	5: 104,520,510	A966V	probably benign	Het
C1ra	A	T	6: 124,522,766	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,719,581	M438L	probably benign	Het
Cep350	T	C	1: 155,953,358	I267V	possibly damaging	Het
Chrna5	A	G	9: 55,004,642	Y138C	probably damaging	Het
Chst3	T	A	10: 60,185,703	M441L	probably benign	Het
Cmya5	G	A	13: 93,063,519	P3434S	probably benign	Het
Cog2	T	A	8: 124,525,683	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,126	I210F	probably benign	Het
Crnn	C	A	3: 93,148,458	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,478,059	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,604,530	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,917,380		probably null	Het
Dync1h1	A	G	12: 110,626,992	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,833,731	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,702,469	D518G	probably benign	Het
Gkn1	T	C	6: 87,347,169	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,517,044	W81G	probably benign	Het
Gyg	T	A	3: 20,138,051	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,246,453	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,565,369	Q5379*	probably null	Het
Kank1	T	C	19: 25,411,317	C785R	probably benign	Het
Lrp1b	A	T	2: 40,851,806	C3036*	probably null	Het
Mdga2	T	C	12: 66,689,335	D373G	probably damaging	Het
Mgat2	A	T	12: 69,185,719	I356F	probably benign	Het
Miga2	A	G	2: 30,377,997	D346G	probably damaging	Het
Mprip	T	A	11: 59,760,258	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,914,140	R386Q	probably benign	Het
Mst1r	T	A	9: 107,919,980	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,492,825	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,508,143	Q460*	probably null	Het
Myo9a	T	C	9: 59,868,181	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,168,590	E1365K	probably null	Het
Nkiras2	C	A	11: 100,625,163	D105E	probably damaging	Het
Nolc1	T	G	19: 46,081,431		probably null	Het
Nos1	T	C	5: 117,867,232	F6L	probably benign	Het
Olfr1112	G	T	2: 87,191,737	V17L	probably benign	Het
Olfr1278	T	A	2: 111,292,560	C97*	probably null	Het
Olfr1369-ps1	C	T	13: 21,116,565	T291I	probably benign	Het
Olfr218	A	T	1: 173,203,371	N5I	probably damaging	Het
Olfr325	T	C	11: 58,581,251	Y136H	probably damaging	Het
Olfr910	T	A	9: 38,539,256	Y120*	probably null	Het
Pfkm	A	G	15: 98,128,318	E598G	possibly damaging	Het
Phf2	A	T	13: 48,807,630	D861E	unknown	Het
Polr2a	A	G	11: 69,739,877		probably null	Het
Popdc2	G	A	16: 38,369,491	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,885,798	S422P	probably benign	Het
Rasa2	T	C	9: 96,568,375	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,495,221	D286V	probably damaging	Het
Rdh13	A	G	7: 4,427,791	W223R	probably damaging	Het
Riok3	T	C	18: 12,128,929	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,353,632	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498	Q655*	probably null	Het
Rpap2	T	C	5: 107,603,550	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,709,602	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,253	G896*	probably null	Het
Spast	C	T	17: 74,356,160	Q158*	probably null	Het
Tas2r104	G	A	6: 131,685,584	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,628,017	W611*	probably null	Het
Timp4	G	A	6: 115,250,403		probably null	Het
Tmem45a	G	A	16: 56,823,570	S72L	probably benign	Het
Tnrc18	T	C	5: 142,788,703	T124A	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttn	T	C	2: 76,942,915	D2381G	probably damaging	Het
Uevld	T	C	7: 46,955,624	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc5d	T	C	8: 28,696,478	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,933,614	I59S	probably benign	Het
Vps72	G	A	3: 95,118,695	S106N	probably benign	Het
Zan	A	C	5: 137,409,669		probably benign	Het
Zbtb38	T	C	9: 96,685,462	K1190E	probably benign	Het
Zc3h6	T	C	2: 129,017,358	V1103A	probably benign	Het
Zfp407	G	A	18: 84,562,157	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,769,509	S1149P	probably damaging	Het

Other mutations in Gcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Gcc1	APN	6	28421198	missense	possibly damaging	0.89
IGL01538:Gcc1	APN	6	28421048	missense	probably damaging	1.00
IGL02248:Gcc1	APN	6	28418514	missense	probably damaging	1.00
IGL02476:Gcc1	APN	6	28420469	missense	probably benign
IGL02725:Gcc1	APN	6	28418459	missense	probably benign	0.02
IGL02733:Gcc1	APN	6	28420662	nonsense	probably null
IGL03065:Gcc1	APN	6	28418402	missense	possibly damaging	0.95
R0049:Gcc1	UTSW	6	28421269	missense	probably benign	0.01
R0049:Gcc1	UTSW	6	28421269	missense	probably benign	0.01
R0197:Gcc1	UTSW	6	28420616	missense	probably damaging	0.99
R0631:Gcc1	UTSW	6	28421010	missense	probably damaging	1.00
R1109:Gcc1	UTSW	6	28419167	missense	probably damaging	0.98
R1677:Gcc1	UTSW	6	28419164	missense	probably benign
R2238:Gcc1	UTSW	6	28420463	missense	probably benign
R2267:Gcc1	UTSW	6	28418499	missense	probably benign
R4512:Gcc1	UTSW	6	28419209	missense	probably benign	0.08
R5237:Gcc1	UTSW	6	28420652	missense	probably benign	0.27
R5687:Gcc1	UTSW	6	28419233	splice site	probably null
R5829:Gcc1	UTSW	6	28419691	unclassified	probably benign
R5993:Gcc1	UTSW	6	28424852	splice site	probably null
R6024:Gcc1	UTSW	6	28419300	missense	probably benign	0.00
R6238:Gcc1	UTSW	6	28420743	missense	probably damaging	1.00
R7266:Gcc1	UTSW	6	28417996	makesense	probably null
R7822:Gcc1	UTSW	6	28418786	missense	probably damaging	1.00
R7981:Gcc1	UTSW	6	28419141	missense	probably benign	0.44
R8498:Gcc1	UTSW	6	28418030	missense	probably benign
R8530:Gcc1	UTSW	6	28420731	missense	probably damaging	1.00
R8688:Gcc1	UTSW	6	28418740	nonsense	probably null
R9031:Gcc1	UTSW	6	28418183	missense	probably damaging	0.99
R9233:Gcc1	UTSW	6	28418711	missense	probably damaging	0.99
R9242:Gcc1	UTSW	6	28420376	missense	possibly damaging	0.92
R9483:Gcc1	UTSW	6	28418090	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCGCCAAGGAGCTAGTCAAAG -3'
(R):5'- AGGATCTCTTGGAGACCATCGAGAC -3'

Sequencing Primer
(F):5'- ATCTCACTACCGGCAGATGG -3'
(R):5'- GAGACACAGAAAAAGCAGCTTC -3'

Posted On

2014-05-14