Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Cep112'

236400

Institutional Source

Beutler Lab

Gene Symbol

Cep112

Ensembl Gene

ENSMUSG00000020728

Gene Name

centrosomal protein 112

Synonyms

Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108316041-108751441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108497151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 697 (E697G)

Ref Sequence

ENSEMBL: ENSMUSP00000114569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000130515] [ENSMUST00000133670] [ENSMUST00000146912] [ENSMUST00000150863] [ENSMUST00000182729]

AlphaFold

Q5PR68

Predicted Effect

probably damaging
Transcript: ENSMUST00000061287
AA Change: E697G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: E697G

Domain	Start	End	E-Value	Type
Pfam:DUF4485	13	98	4.8e-31	PFAM
coiled coil region	275	341	N/A	INTRINSIC
coiled coil region	397	477	N/A	INTRINSIC
coiled coil region	504	954	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130515
AA Change: E697G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: E697G

Domain	Start	End	E-Value	Type
Pfam:DUF4485	12	99	5.8e-31	PFAM
coiled coil region	275	341	N/A	INTRINSIC
coiled coil region	397	477	N/A	INTRINSIC
coiled coil region	504	954	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133670
AA Change: E423G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114627
Gene: ENSMUSG00000020728
AA Change: E423G

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
internal_repeat_2	66	104	4.9e-5	PROSPERO
internal_repeat_1	81	110	2.63e-5	PROSPERO
coiled coil region	123	203	N/A	INTRINSIC
internal_repeat_3	252	264	4.9e-5	PROSPERO
low complexity region	317	328	N/A	INTRINSIC
internal_repeat_2	332	370	4.9e-5	PROSPERO
internal_repeat_3	532	544	4.9e-5	PROSPERO
internal_repeat_1	540	569	2.63e-5	PROSPERO
coiled coil region	571	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146912
AA Change: E82G

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120601
Gene: ENSMUSG00000020728
AA Change: E82G

Domain	Start	End	E-Value	Type
coiled coil region	25	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150863
AA Change: E749G

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: E749G

Domain	Start	End	E-Value	Type
Pfam:DUF4485	12	99	6.8e-28	PFAM
coiled coil region	275	341	N/A	INTRINSIC
coiled coil region	397	477	N/A	INTRINSIC
coiled coil region	504	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182729
AA Change: E655G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: E655G

Domain	Start	End	E-Value	Type
Pfam:DUF4485	12	99	5.4e-31	PFAM
coiled coil region	233	299	N/A	INTRINSIC
coiled coil region	355	435	N/A	INTRINSIC
coiled coil region	462	912	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183042

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Adgrb3	G	T	1: 25,107,290 (GRCm39)	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Angpt2	T	C	8: 18,764,156 (GRCm39)	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,059,871 (GRCm39)	K236*	probably null	Het
Baz1b	G	A	5: 135,246,129 (GRCm39)	R526H	probably damaging	Het
Bltp3b	A	G	10: 89,647,910 (GRCm39)	D207G	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Btnl9	G	T	11: 49,061,453 (GRCm39)		probably null	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cdh8	C	A	8: 99,838,325 (GRCm39)	C505F	probably damaging	Het
Ces1c	T	A	8: 93,857,468 (GRCm39)	I38F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,363,965 (GRCm39)	H546R	probably damaging	Het
Crot	A	T	5: 9,037,780 (GRCm39)	Y179N	possibly damaging	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Ddb1	T	C	19: 10,596,490 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Elf2	A	G	3: 51,163,861 (GRCm39)	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fbn1	T	G	2: 125,254,628 (GRCm39)	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,381,609 (GRCm39)	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,667,198 (GRCm39)	T307A	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm266	C	T	12: 111,451,615 (GRCm39)	R197K	possibly damaging	Het
Gns	G	A	10: 121,228,683 (GRCm39)	R498H	probably damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Grk6	T	C	13: 55,602,177 (GRCm39)	W335R	probably damaging	Het
Helz2	T	C	2: 180,873,173 (GRCm39)	E2379G	probably benign	Het
Hmx2	A	T	7: 131,157,588 (GRCm39)	D234V	probably damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ipo9	CCT	CCTTCT	1: 135,314,020 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Itpkc	A	G	7: 26,919,075 (GRCm39)	V397A	possibly damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kdr	T	C	5: 76,129,083 (GRCm39)	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,811,094 (GRCm39)	N338S	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Micall1	T	C	15: 79,014,995 (GRCm39)	Y751H	probably damaging	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myh2	A	G	11: 67,080,158 (GRCm39)	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nrbp1	A	G	5: 31,405,273 (GRCm39)	E287G	possibly damaging	Het
Nup188	T	A	2: 30,226,718 (GRCm39)	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or2y13	A	G	11: 49,414,666 (GRCm39)	I39V	probably benign	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k48	C	A	2: 111,475,566 (GRCm39)	V259L	probably benign	Het
Or51a10	C	T	7: 103,699,507 (GRCm39)	G18D	probably damaging	Het
Or6c1b	A	G	10: 129,273,616 (GRCm39)	K312E	probably benign	Het
Or9g3	C	T	2: 85,590,021 (GRCm39)	R233H	probably benign	Het
Panx3	G	C	9: 37,577,969 (GRCm39)	S87W	probably damaging	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,555,176 (GRCm39)	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,645 (GRCm39)	G605V	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,594,119 (GRCm39)	K1331N	probably benign	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,043 (GRCm39)		probably null	Het
Prb1a	T	A	6: 132,184,166 (GRCm39)	Q489L	unknown	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psme4	A	G	11: 30,770,998 (GRCm39)	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,314,210 (GRCm39)		probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rit2	A	G	18: 31,286,766 (GRCm39)	F140L	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rorc	G	A	3: 94,296,833 (GRCm39)	R271Q	probably benign	Het
Sall3	A	T	18: 81,013,046 (GRCm39)	M1130K	probably damaging	Het
Sart3	T	C	5: 113,902,154 (GRCm39)	E141G	probably damaging	Het
Serpina9	T	C	12: 103,974,568 (GRCm39)	D195G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tars3	A	T	7: 65,308,645 (GRCm39)	I272L	probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,734,206 (GRCm39)	H294Y	probably benign	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tigd4	A	G	3: 84,501,670 (GRCm39)	T196A	possibly damaging	Het
Treh	G	A	9: 44,592,438 (GRCm39)	M54I	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,213,653 (GRCm39)	I4T	probably damaging	Het
Zfp638	T	A	6: 83,963,578 (GRCm39)	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,856,311 (GRCm39)	H333N	probably damaging	Het

Other mutations in Cep112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Cep112	APN	11	108,481,879 (GRCm39)	missense	probably damaging	1.00
IGL00705:Cep112	APN	11	108,362,859 (GRCm39)	missense	probably benign
IGL00848:Cep112	APN	11	108,362,886 (GRCm39)	missense	probably damaging	1.00
IGL00975:Cep112	APN	11	108,325,012 (GRCm39)	missense	probably damaging	1.00
IGL01085:Cep112	APN	11	108,377,432 (GRCm39)	missense	probably damaging	1.00
IGL01286:Cep112	APN	11	108,750,235 (GRCm39)	critical splice donor site	probably null
IGL01536:Cep112	APN	11	108,422,237 (GRCm39)	missense	probably null	0.08
IGL02622:Cep112	APN	11	108,409,509 (GRCm39)	missense	probably benign	0.26
IGL02720:Cep112	APN	11	108,750,177 (GRCm39)	missense	probably damaging	0.98
FR4976:Cep112	UTSW	11	108,316,178 (GRCm39)	unclassified	probably benign
PIT4466001:Cep112	UTSW	11	108,410,722 (GRCm39)	missense	probably benign
R0727:Cep112	UTSW	11	108,397,380 (GRCm39)	missense	probably damaging	1.00
R0907:Cep112	UTSW	11	108,461,258 (GRCm39)	splice site	probably benign
R0908:Cep112	UTSW	11	108,555,323 (GRCm39)	missense	possibly damaging	0.69
R1236:Cep112	UTSW	11	108,750,200 (GRCm39)	missense	probably damaging	1.00
R1514:Cep112	UTSW	11	108,362,880 (GRCm39)	missense	probably damaging	1.00
R2049:Cep112	UTSW	11	108,497,151 (GRCm39)	missense	probably damaging	0.96
R2058:Cep112	UTSW	11	108,410,087 (GRCm39)	critical splice donor site	probably null
R2059:Cep112	UTSW	11	108,410,087 (GRCm39)	critical splice donor site	probably null
R2126:Cep112	UTSW	11	108,399,084 (GRCm39)	missense	probably damaging	0.98
R2196:Cep112	UTSW	11	108,461,187 (GRCm39)	missense	probably damaging	0.98
R2276:Cep112	UTSW	11	108,746,671 (GRCm39)	missense	probably damaging	1.00
R2414:Cep112	UTSW	11	108,643,408 (GRCm39)	missense	possibly damaging	0.91
R2655:Cep112	UTSW	11	108,328,027 (GRCm39)	splice site	probably benign
R2882:Cep112	UTSW	11	108,410,038 (GRCm39)	missense	possibly damaging	0.94
R3001:Cep112	UTSW	11	108,331,329 (GRCm39)	missense	probably damaging	1.00
R3002:Cep112	UTSW	11	108,331,329 (GRCm39)	missense	probably damaging	1.00
R3003:Cep112	UTSW	11	108,331,329 (GRCm39)	missense	probably damaging	1.00
R4407:Cep112	UTSW	11	108,410,027 (GRCm39)	missense	possibly damaging	0.93
R4796:Cep112	UTSW	11	108,377,818 (GRCm39)	critical splice donor site	probably null
R4898:Cep112	UTSW	11	108,397,471 (GRCm39)	missense	probably damaging	0.96
R4899:Cep112	UTSW	11	108,497,110 (GRCm39)	missense	probably damaging	0.96
R4977:Cep112	UTSW	11	108,325,062 (GRCm39)	missense	probably damaging	0.97
R5021:Cep112	UTSW	11	108,361,154 (GRCm39)	missense	possibly damaging	0.86
R5186:Cep112	UTSW	11	108,643,386 (GRCm39)	missense	probably benign	0.00
R5462:Cep112	UTSW	11	108,409,570 (GRCm39)	missense	probably damaging	1.00
R5494:Cep112	UTSW	11	108,555,431 (GRCm39)	missense	probably damaging	1.00
R5506:Cep112	UTSW	11	108,555,429 (GRCm39)	missense	probably damaging	1.00
R5560:Cep112	UTSW	11	108,328,061 (GRCm39)	missense	probably damaging	1.00
R5682:Cep112	UTSW	11	108,361,138 (GRCm39)	missense	probably damaging	1.00
R5857:Cep112	UTSW	11	108,422,297 (GRCm39)	splice site	probably benign
R5863:Cep112	UTSW	11	108,497,058 (GRCm39)	missense	probably damaging	1.00
R5884:Cep112	UTSW	11	108,461,142 (GRCm39)	missense	probably damaging	0.99
R5913:Cep112	UTSW	11	108,648,514 (GRCm39)	missense	probably damaging	0.99
R6344:Cep112	UTSW	11	108,410,000 (GRCm39)	missense	probably damaging	0.98
R6498:Cep112	UTSW	11	108,331,357 (GRCm39)	missense	probably benign	0.25
R6611:Cep112	UTSW	11	108,397,377 (GRCm39)	missense	possibly damaging	0.71
R6638:Cep112	UTSW	11	108,746,696 (GRCm39)	missense	probably damaging	1.00
R6916:Cep112	UTSW	11	108,750,202 (GRCm39)	missense	probably damaging	1.00
R7182:Cep112	UTSW	11	108,573,670 (GRCm39)	missense	probably benign	0.07
R7262:Cep112	UTSW	11	108,555,467 (GRCm39)	missense	probably damaging	0.99
R7386:Cep112	UTSW	11	108,699,507 (GRCm39)	missense	probably benign	0.00
R7539:Cep112	UTSW	11	108,746,654 (GRCm39)	missense	probably benign	0.38
R8262:Cep112	UTSW	11	108,393,977 (GRCm39)	missense	probably damaging	1.00
R8681:Cep112	UTSW	11	108,316,478 (GRCm39)	critical splice donor site	probably null
R8845:Cep112	UTSW	11	108,461,193 (GRCm39)	missense	probably damaging	1.00
R8955:Cep112	UTSW	11	108,643,260 (GRCm39)	missense	possibly damaging	0.61
R9213:Cep112	UTSW	11	108,377,779 (GRCm39)	missense	probably benign
R9348:Cep112	UTSW	11	108,328,076 (GRCm39)	missense	probably damaging	0.97
R9516:Cep112	UTSW	11	108,648,514 (GRCm39)	missense	probably damaging	0.99
R9771:Cep112	UTSW	11	108,573,517 (GRCm39)	intron	probably benign
R9784:Cep112	UTSW	11	108,461,217 (GRCm39)	missense	probably damaging	1.00
Z1176:Cep112	UTSW	11	108,316,136 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATGACGACAAGGATGTTC -3'
(R):5'- TTATTCATCCTCCAAACAGGGG -3'

Sequencing Primer
(F):5'- CGACAAGGATGTTCTGTTGATGAAC -3'
(R):5'- GTCAGTTTTGCAAATGATCAAACAGC -3'

Posted On

2014-10-01