Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00705:Cep112'

9446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep112

Ensembl Gene

ENSMUSG00000020728

Gene Name

centrosomal protein 112

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

IGL00705

Quality Score

Status

Chromosome

Chromosomal Location

108316041-108751441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108362859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 193 (T193K)

Ref Sequence

ENSEMBL: ENSMUSP00000138235 (fasta)

Gene Model

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

AlphaFold

Q5PR68

Predicted Effect

probably benign
Transcript: ENSMUST00000061287
AA Change: T193K

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

SMART Domains

Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: T193K

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 benign
Transcript: ENSMUST00000130515
AA Change: T193K

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

SMART Domains

Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: T193K

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: ENSMUST00000138538
AA Change: T193K

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

SMART Domains

Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728
AA Change: T193K

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

noncoding transcript
Transcript: ENSMUST00000143212

Predicted Effect

probably benign
Transcript: ENSMUST00000150863
AA Change: T245K

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

SMART Domains

Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: T245K

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: T193K

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

SMART Domains

Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: T193K

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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,359,588 (GRCm39)	H257Q	probably damaging	Het
Arap2	A	T	5: 62,835,366 (GRCm39)	H725Q	probably damaging	Het
Asnsd1	A	T	1: 53,387,610 (GRCm39)	C6S	probably damaging	Het
Bptf	T	C	11: 106,986,534 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,892,484 (GRCm39)	I720V	possibly damaging	Het
Grid1	T	A	14: 35,167,844 (GRCm39)	I456N	possibly damaging	Het
Limch1	A	T	5: 67,150,496 (GRCm39)	R169*	probably null	Het
Mroh9	A	G	1: 162,907,072 (GRCm39)	S17P	probably damaging	Het
Mtpap	A	C	18: 4,379,670 (GRCm39)	N87H	probably damaging	Het
Nudt17	A	G	3: 96,614,516 (GRCm39)		probably null	Het
Obox6	A	T	7: 15,567,662 (GRCm39)	S262T	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rufy3	A	G	5: 88,769,209 (GRCm39)	I226V	probably damaging	Het
Tex15	C	A	8: 34,071,620 (GRCm39)	P2389Q	probably damaging	Het
Urb2	T	A	8: 124,763,376 (GRCm39)	V1266D	probably benign	Het
Usp17ld	G	A	7: 102,899,645 (GRCm39)	T429I	probably benign	Het
Zfp110	A	G	7: 12,583,086 (GRCm39)	H578R	probably benign	Het
Zfp318	T	A	17: 46,723,398 (GRCm39)	S1800R	probably benign	Het
Zfp638	A	G	6: 83,954,112 (GRCm39)	T1406A	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
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
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

Posted On

2012-12-06