Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Cep112'

228496

Institutional Source

Beutler Lab

Gene Symbol

Cep112

Ensembl Gene

ENSMUSG00000020728

Gene Name

centrosomal protein 112

Synonyms

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

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R2059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108316041-108751441 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 108410087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138235 (fasta)

Gene Model

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

AlphaFold

Q5PR68

Predicted Effect

probably null
Transcript: ENSMUST00000061287

SMART Domains

Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728

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 null
Transcript: ENSMUST00000130515

SMART Domains

Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728

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 null
Transcript: ENSMUST00000133670

SMART Domains

Protein: ENSMUSP00000114627
Gene: ENSMUSG00000020728

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 null
Transcript: ENSMUST00000138538

SMART Domains

Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728

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 null
Transcript: ENSMUST00000150863

SMART Domains

Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728

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 null
Transcript: ENSMUST00000182729

SMART Domains

Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	G	A	5: 30,404,489 (GRCm39)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,366,274 (GRCm39)	L42F	probably damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,506 (GRCm39)	V118A	probably benign	Het
Ano1	G	C	7: 144,165,127 (GRCm39)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,258,977 (GRCm39)		probably null	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atf7ip	T	G	6: 136,586,346 (GRCm39)		probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Baz2a	T	A	10: 127,949,447 (GRCm39)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,104,700 (GRCm39)		probably benign	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpj	G	A	14: 56,801,412 (GRCm39)	P187L	possibly damaging	Het
Cfap54	A	T	10: 92,778,841 (GRCm39)		probably benign	Het
Cgref1	T	G	5: 31,090,989 (GRCm39)	D275A	possibly damaging	Het
Clgn	A	C	8: 84,126,607 (GRCm39)	N103H	probably benign	Het
Corin	A	G	5: 72,473,394 (GRCm39)	V905A	possibly damaging	Het
Csta1	A	C	16: 35,942,692 (GRCm39)	D72E	probably benign	Het
Cul5	A	T	9: 53,578,456 (GRCm39)	L44Q	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,080,197 (GRCm39)		probably null	Het
Enoph1	A	G	5: 100,207,078 (GRCm39)	D55G	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fhip2b	A	G	14: 70,822,489 (GRCm39)	V744A	possibly damaging	Het
Foxi2	G	T	7: 135,012,406 (GRCm39)	G98V	probably damaging	Het
Galr2	T	C	11: 116,173,765 (GRCm39)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gm15446	C	T	5: 110,090,362 (GRCm39)	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910 (GRCm39)	I153N	probably benign	Het
Grip1	A	G	10: 119,874,603 (GRCm39)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Herc2	T	A	7: 55,813,645 (GRCm39)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,892,555 (GRCm39)	D256G	probably benign	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Irf2	A	T	8: 47,260,380 (GRCm39)	N104I	probably damaging	Het
Kat6a	A	G	8: 23,429,321 (GRCm39)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,555,199 (GRCm39)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,619,514 (GRCm39)	E209G	probably damaging	Het
Lama3	A	T	18: 12,661,390 (GRCm39)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,839,877 (GRCm39)	E65*	probably null	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msl3l2	T	A	10: 55,992,040 (GRCm39)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,255,379 (GRCm39)	K225*	probably null	Het
Nf1	T	C	11: 79,447,549 (GRCm39)	V435A	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,116,823 (GRCm39)	M359K	probably null	Het
Nox1	T	C	X: 132,995,993 (GRCm39)		probably benign	Het
Ogdhl	G	A	14: 32,054,841 (GRCm39)	R263K	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or2y16	T	A	11: 49,335,278 (GRCm39)	V200E	probably damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptprk	T	A	10: 28,442,599 (GRCm39)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,322 (GRCm39)		probably benign	Het
Rab3c	A	G	13: 110,397,050 (GRCm39)	V72A	probably damaging	Het
Rbms2	A	G	10: 127,973,387 (GRCm39)	S251P	probably benign	Het
Rfwd3	A	G	8: 112,024,127 (GRCm39)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,186,397 (GRCm39)	Y211F	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,572,998 (GRCm39)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,745,158 (GRCm39)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,154,578 (GRCm39)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,831,643 (GRCm39)	T40S	probably damaging	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc7a3	A	G	X: 100,124,373 (GRCm39)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Spata13	A	C	14: 60,997,040 (GRCm39)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,678,158 (GRCm39)	S652T	probably benign	Het
Stom	A	G	2: 35,206,037 (GRCm39)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,682,892 (GRCm39)	Y18H	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,199,773 (GRCm39)	I457N	probably damaging	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,113,746 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Ust	A	G	10: 8,083,330 (GRCm39)	Y349H	probably damaging	Het
V1rd19	A	T	7: 23,703,259 (GRCm39)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,589,186 (GRCm39)	M123L	probably benign	Het
Vps13c	A	T	9: 67,768,115 (GRCm39)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,358,172 (GRCm39)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,707,950 (GRCm39)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,611,716 (GRCm39)	S416P	possibly 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
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
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'- GCTATCCATTTTAGAGATTGGTTCC -3'
(R):5'- TGCTTTAGGAGAGCGTCAAG -3'

Sequencing Primer
(F):5'- TCAGGCGCAACATACTAC -3'
(R):5'- AGACCTTGCTGCTAAGTGC -3'

Posted On

2014-09-17