Mutagenetix > Incidental Mutation

Incidental Mutation 'R9626:Gcc1'

725143

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 #

R9626 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28416602-28421723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28418917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 472 (D472G)

Ref Sequence

ENSEMBL: ENSMUSP00000067395 (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

probably damaging
Transcript: ENSMUST00000064377
AA Change: D472G

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

SMART Domains

Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: D472G

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: D472G

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

SMART Domains

Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: D472G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,127,502 (GRCm39)	N37I	unknown	Het
Abca9	T	A	11: 110,011,606 (GRCm39)	T1146S	probably benign	Het
Acnat2	G	A	4: 49,380,179 (GRCm39)	H400Y	probably damaging	Het
Adgrd1	T	C	5: 129,275,721 (GRCm39)	S768P	probably damaging	Het
Arap2	T	A	5: 62,906,878 (GRCm39)	H47L	probably benign	Het
Atxn1	T	A	13: 45,710,796 (GRCm39)	N712I	possibly damaging	Het
Bri3bp	T	A	5: 125,531,572 (GRCm39)	S173T	probably damaging	Het
Camta1	A	T	4: 151,168,287 (GRCm39)	S254R	probably damaging	Het
Card9	T	C	2: 26,247,294 (GRCm39)	E285G	probably benign	Het
Celf2	G	A	2: 6,590,835 (GRCm39)	A320V	probably benign	Het
Celsr3	T	C	9: 108,726,521 (GRCm39)	I3250T	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntrob	T	C	11: 69,202,167 (GRCm39)	H475R	possibly damaging	Het
Dcaf6	G	A	1: 165,227,264 (GRCm39)	R288*	probably null	Het
Ebna1bp2	G	A	4: 118,478,371 (GRCm39)		probably benign	Het
Erich3	A	T	3: 154,444,730 (GRCm39)	D302V	probably benign	Het
Fbxo48	T	A	11: 16,904,333 (GRCm39)	*162K	probably null	Het
Fyttd1	T	C	16: 32,725,915 (GRCm39)	L290S	probably damaging	Het
Gjb4	C	T	4: 127,246,081 (GRCm39)		probably benign	Het
Gm5157	G	T	7: 20,919,396 (GRCm39)	T49K	probably damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Hnrnpm	G	T	17: 33,896,264 (GRCm39)	D88E	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hunk	C	T	16: 90,272,791 (GRCm39)	T365M	probably damaging	Het
Lamb1	A	G	12: 31,354,669 (GRCm39)	D972G	probably benign	Het
Mamdc4	A	G	2: 25,458,273 (GRCm39)	L379P	probably damaging	Het
Mcrs1	A	G	15: 99,146,353 (GRCm39)	L179P	probably damaging	Het
Mterf2	C	T	10: 84,956,295 (GRCm39)	A110T	probably benign	Het
Mucl1	A	G	15: 103,783,934 (GRCm39)	S91P	possibly damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ndst4	A	C	3: 125,476,829 (GRCm39)	D18A	probably damaging	Het
Ndufv1	A	T	19: 4,058,064 (GRCm39)	C382*	probably null	Het
Npc1l1	T	C	11: 6,177,854 (GRCm39)	K519E	probably benign	Het
Nphs1	A	G	7: 30,166,991 (GRCm39)	K747E	probably benign	Het
Nubp2	C	G	17: 25,103,374 (GRCm39)		probably null	Het
Odad2	G	T	18: 7,211,422 (GRCm39)	C817*	probably null	Het
Or13a19	T	C	7: 139,903,236 (GRCm39)	V208A	probably benign	Het
Or5b97	A	T	19: 12,878,600 (GRCm39)	D181E	possibly damaging	Het
Or7a36	T	G	10: 78,820,213 (GRCm39)	D196E	probably benign	Het
Or7a40	A	G	16: 16,491,491 (GRCm39)	M118T	probably damaging	Het
Or8b48	A	G	9: 38,492,977 (GRCm39)	T135A	probably benign	Het
Pcdhac2	T	G	18: 37,279,555 (GRCm39)	L845R	probably damaging	Het
Pcdhb14	A	C	18: 37,581,787 (GRCm39)	T298P	probably damaging	Het
Phldb2	A	T	16: 45,592,547 (GRCm39)	L957Q	possibly damaging	Het
Pole	A	G	5: 110,459,959 (GRCm39)	D1121G	possibly damaging	Het
Ppp1r3g	C	A	13: 36,153,612 (GRCm39)	T344K	probably benign	Het
Prpf8	A	G	11: 75,385,681 (GRCm39)	K954R	possibly damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Sap18b	A	G	8: 96,552,098 (GRCm39)	E36G	possibly damaging	Het
Slc46a2	A	T	4: 59,914,241 (GRCm39)	F227L	probably benign	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spmip4	T	A	6: 50,550,930 (GRCm39)	K506N		Het
Ssc5d	C	A	7: 4,946,568 (GRCm39)	T974K	probably benign	Het
Tenm4	C	A	7: 96,545,345 (GRCm39)	R2491S	probably damaging	Het
Tex2	T	C	11: 106,437,579 (GRCm39)	E697G	unknown	Het
Tmem44	A	T	16: 30,366,226 (GRCm39)	F67I	possibly damaging	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Ttc39a	A	G	4: 109,278,570 (GRCm39)	D77G	possibly damaging	Het
Ttc9	A	G	12: 81,710,301 (GRCm39)	I198V	probably benign	Het
Ttn	C	T	2: 76,661,550 (GRCm39)	V11942M	unknown	Het
Uqcrc2	T	A	7: 120,237,118 (GRCm39)	Y55*	probably null	Het
Vmn1r160	A	T	7: 22,571,273 (GRCm39)	M209L	probably benign	Het
Vmn2r50	A	T	7: 9,771,960 (GRCm39)	C580*	probably null	Het
Vmn2r96	A	G	17: 18,793,758 (GRCm39)	E34G	probably benign	Het
Zmynd8	C	T	2: 165,654,268 (GRCm39)		probably null	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
R9483:Gcc1	UTSW	6	28,418,089 (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'- CGCAGGGAGATATACTTGTCC -3'
(R):5'- ACCTGGAGAACAAGACACTG -3'

Sequencing Primer
(F):5'- CAGGGAGATATACTTGTCCTTCAGC -3'
(R):5'- AAGACACTGGCCCTCGCAG -3'

Posted On

2022-09-12