Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Cep112'

375950

Institutional Source

Beutler Lab

Gene Symbol

Cep112

Ensembl Gene

ENSMUSG00000020728

Gene Name

centrosomal protein 112

Synonyms

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

MMRRC Submission

042502-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R4898 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

108316041-108751441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108397471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 353 (D353E)

Ref Sequence

ENSEMBL: ENSMUSP00000117192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000130515] [ENSMUST00000133670] [ENSMUST00000138538] [ENSMUST00000150863] [ENSMUST00000182729]

AlphaFold

Q5PR68

Predicted Effect

probably damaging
Transcript: ENSMUST00000061287
AA Change: D353E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: D353E

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: D353E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: D353E

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: D79E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114627
Gene: ENSMUSG00000020728
AA Change: D79E

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 damaging
Transcript: ENSMUST00000138538
AA Change: D353E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728
AA Change: D353E

Domain	Start	End	E-Value	Type
Pfam:DUF4485	12	99	6.7e-28	PFAM
coiled coil region	275	341	N/A	INTRINSIC
coiled coil region	397	477	N/A	INTRINSIC
coiled coil region	504	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150863
AA Change: D405E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: D405E

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

possibly damaging
Transcript: ENSMUST00000182729
AA Change: D311E

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: D311E

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,639,111 (GRCm39)	Y944C	probably damaging	Het
Acacb	T	C	5: 114,370,999 (GRCm39)	V1747A	probably benign	Het
Acad8	C	T	9: 26,889,698 (GRCm39)	R332H	probably damaging	Het
Acrbp	A	C	6: 125,027,501 (GRCm39)	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,583,077 (GRCm39)	N1500K	probably benign	Het
Aoc1l3	A	G	6: 48,964,651 (GRCm39)	T220A	possibly damaging	Het
Arfgef1	A	G	1: 10,229,798 (GRCm39)	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,842,171 (GRCm39)	S478G	probably benign	Het
Armh1	T	C	4: 117,094,977 (GRCm39)	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,227,779 (GRCm39)	L1045*	probably null	Het
Atp2a3	T	A	11: 72,873,506 (GRCm39)	L793H	probably damaging	Het
B4galnt4	C	A	7: 140,648,173 (GRCm39)	P563Q	probably benign	Het
Bcl2a1b	A	T	9: 89,081,713 (GRCm39)	K94*	probably null	Het
Bod1	T	A	11: 31,616,853 (GRCm39)	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,055,166 (GRCm39)	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588 (GRCm38)	V1250A	possibly damaging	Het
Car12	T	A	9: 66,671,600 (GRCm39)	Y332*	probably null	Het
Ccdc186	A	T	19: 56,790,432 (GRCm39)		probably null	Het
Cdh6	T	C	15: 13,034,774 (GRCm39)	T629A	probably damaging	Het
Cep152	T	C	2: 125,428,301 (GRCm39)	S777G	probably benign	Het
Clec4b2	A	C	6: 123,181,163 (GRCm39)	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926 (GRCm39)	Y323H	probably benign	Het
Cnp	G	T	11: 100,467,202 (GRCm39)	E48D	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,275,224 (GRCm39)	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,772,285 (GRCm39)	E703D	probably damaging	Het
Dlg1	T	C	16: 31,676,764 (GRCm39)	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,651,276 (GRCm39)	S86G	probably benign	Het
Dock3	C	A	9: 106,870,171 (GRCm39)	V638F	possibly damaging	Het
Dock3	A	G	9: 106,807,266 (GRCm39)	F1354L	probably damaging	Het
Eif3c	A	T	7: 126,156,626 (GRCm39)	M407K	probably benign	Het
Eif4a3l1	A	T	6: 136,305,737 (GRCm39)	Q66L	possibly damaging	Het
Epha4	T	A	1: 77,366,712 (GRCm39)	K578*	probably null	Het
Erc2	C	T	14: 27,375,285 (GRCm39)	L168F	probably damaging	Het
Esyt2	A	G	12: 116,305,708 (GRCm39)	I313V	probably benign	Het
Far1	T	A	7: 113,167,432 (GRCm39)	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,547,037 (GRCm39)	N463Y	possibly damaging	Het
Fgg	A	G	3: 82,915,847 (GRCm39)	D96G	probably benign	Het
Gfer	A	G	17: 24,914,274 (GRCm39)	S130P	probably damaging	Het
Hdac10	A	T	15: 89,012,650 (GRCm39)	M1K	probably null	Het
Hsd3b1	A	T	3: 98,760,642 (GRCm39)	S110R	probably benign	Het
Ints15	A	G	5: 143,287,592 (GRCm39)	S438P	probably benign	Het
Itga6	T	C	2: 71,668,717 (GRCm39)	L552P	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,147,214 (GRCm39)	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,628,080 (GRCm39)	Y142F	probably benign	Het
Lyz2	T	A	10: 117,114,614 (GRCm39)	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Map7d1	T	C	4: 126,127,018 (GRCm39)	K731E	unknown	Het
Mgam	A	C	6: 40,619,988 (GRCm39)	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953 (GRCm39)	E104D	probably benign	Het
Morc2a	C	T	11: 3,626,664 (GRCm39)	R241*	probably null	Het
Mtfmt	C	A	9: 65,359,386 (GRCm39)	H354N	probably benign	Het
Myh3	T	C	11: 66,990,233 (GRCm39)	I1626T	probably benign	Het
Ndst1	A	T	18: 60,825,059 (GRCm39)	V753D	probably benign	Het
Neurl4	A	G	11: 69,793,997 (GRCm39)	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,168,194 (GRCm39)	S568G	probably benign	Het
Or10g3b	G	C	14: 52,586,999 (GRCm39)	P168R	probably damaging	Het
Or2t45	T	C	11: 58,669,132 (GRCm39)	Y60H	possibly damaging	Het
Or2t46	T	G	11: 58,472,546 (GRCm39)	L292R	probably damaging	Het
Or4c52	T	C	2: 89,845,762 (GRCm39)	F163L	probably damaging	Het
Or52s1	A	G	7: 102,861,747 (GRCm39)	I216V	probably damaging	Het
Or6c66	A	T	10: 129,461,468 (GRCm39)	I154N	probably benign	Het
Or8b42	A	T	9: 38,342,111 (GRCm39)	M178L	probably benign	Het
Osbpl7	A	G	11: 96,950,976 (GRCm39)	I608V	probably damaging	Het
Pard3b	T	C	1: 61,807,159 (GRCm39)	I58T	probably damaging	Het
Pcare	A	G	17: 72,058,066 (GRCm39)	M537T	probably damaging	Het
Pcdhga1	A	C	18: 37,795,407 (GRCm39)	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,139,072 (GRCm39)	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,230,786 (GRCm39)	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,514,042 (GRCm39)	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,610,899 (GRCm39)	Y183C	probably damaging	Het
Pole	A	C	5: 110,438,090 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,045,313 (GRCm39)	L948P	probably damaging	Het
Prdm2	A	T	4: 142,860,761 (GRCm39)	V843E	probably damaging	Het
Prss56	C	A	1: 87,115,708 (GRCm39)	F527L	probably damaging	Het
Psmd11	T	C	11: 80,329,146 (GRCm39)	L88P	probably damaging	Het
Ptx3	G	C	3: 66,132,412 (GRCm39)	G311A	probably damaging	Het
Rars1	A	T	11: 35,699,385 (GRCm39)	L636H	probably damaging	Het
Rnft2	A	G	5: 118,375,507 (GRCm39)	S81P	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxra	T	A	2: 27,631,195 (GRCm39)	I142N	probably damaging	Het
Scin	T	C	12: 40,154,931 (GRCm39)	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,584,069 (GRCm39)	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,157,783 (GRCm39)	I505F	probably benign	Het
Six5	T	C	7: 18,829,096 (GRCm39)	Y179H	probably damaging	Het
Slc12a4	A	C	8: 106,671,241 (GRCm39)	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,765,237 (GRCm39)	L404F	probably damaging	Het
Smn1	T	C	13: 100,268,931 (GRCm39)	L259P	probably damaging	Het
Sorl1	T	G	9: 41,952,935 (GRCm39)	D702A	probably damaging	Het
Spta1	A	G	1: 174,065,400 (GRCm39)	E1983G	possibly damaging	Het
Srsf1	T	A	11: 87,940,788 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,536,900 (GRCm39)	R4224*	probably null	Het
Sybu	T	G	15: 44,538,895 (GRCm39)	M383L	probably benign	Het
Tbx15	A	C	3: 99,259,583 (GRCm39)	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 137,819,786 (GRCm39)	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616 (GRCm39)	T474N	possibly damaging	Het
Thada	A	T	17: 84,755,470 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,704,235 (GRCm39)	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,914,566 (GRCm39)	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,158,845 (GRCm39)	M623T	probably damaging	Het
Trdn	T	A	10: 33,350,413 (GRCm39)	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,612,056 (GRCm39)	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,707,026 (GRCm39)	R644S	probably benign	Het
Ttyh1	A	T	7: 4,136,735 (GRCm39)	M448L	probably benign	Het
Unc79	G	T	12: 103,128,079 (GRCm39)	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,358,805 (GRCm39)	I2110M	probably benign	Het
Uvssa	G	T	5: 33,571,257 (GRCm39)	E634*	probably null	Het
Vac14	A	C	8: 111,372,440 (GRCm39)	T384P	probably benign	Het
Wdr11	A	G	7: 129,235,445 (GRCm39)	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,157,298 (GRCm39)	T28S	probably benign	Het
Zfp715	A	T	7: 42,949,106 (GRCm39)	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,747,424 (GRCm39)	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,396,085 (GRCm39)	V544M	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
R2142:Cep112	UTSW	11	108,497,151 (GRCm39)	missense	probably damaging	0.96
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
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'- GGAGAAATACTTGAGACTAGCATGC -3'
(R):5'- TTGTACTGTCAGCTTCAGCC -3'

Sequencing Primer
(F):5'- GCATGCTATTTAAATGTTCTAGGGAG -3'
(R):5'- CCTGGGCTAGATAATGACACTGGC -3'

Posted On

2016-03-17