Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01646:Ccdc192'

102663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc192

Ensembl Gene

ENSMUSG00000058925

Gene Name

coiled-coil domain containing 192

Synonyms

1700011I03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01646

Quality Score

Status

Chromosome

Chromosomal Location

57666852-57864137 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57800417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 171 (C171*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079738] [ENSMUST00000135806]

AlphaFold

E9PYL8

Predicted Effect

probably null
Transcript: ENSMUST00000079738
AA Change: C189*

SMART Domains

Protein: ENSMUSP00000078674
Gene: ENSMUSG00000058925
AA Change: C189*

Domain	Start	End	E-Value	Type
coiled coil region	68	177	N/A	INTRINSIC
coiled coil region	220	260	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123872
AA Change: C171*

SMART Domains

Protein: ENSMUSP00000114519
Gene: ENSMUSG00000058925
AA Change: C171*

Domain	Start	End	E-Value	Type
low complexity region	14	19	N/A	INTRINSIC
coiled coil region	50	159	N/A	INTRINSIC
coiled coil region	202	242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135806

SMART Domains

Protein: ENSMUSP00000115752
Gene: ENSMUSG00000058925

Domain	Start	End	E-Value	Type
coiled coil region	68	151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158151

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	C	T	4: 63,066,977 (GRCm39)	V188I	probably benign	Het
Bbs9	G	T	9: 22,582,221 (GRCm39)	E638*	probably null	Het
Bmp6	A	G	13: 38,682,904 (GRCm39)	M465V	probably damaging	Het
Cemip	T	C	7: 83,632,440 (GRCm39)	E374G	possibly damaging	Het
Cnbd1	A	T	4: 18,895,141 (GRCm39)	Y200*	probably null	Het
Cox6b1	G	T	7: 30,323,929 (GRCm39)	Y34*	probably null	Het
Cyp2d26	A	C	15: 82,675,619 (GRCm39)	I303M	probably benign	Het
Diaph1	T	A	18: 38,026,469 (GRCm39)		probably null	Het
Dmp1	T	C	5: 104,359,731 (GRCm39)	S136P	probably damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Eea1	A	G	10: 95,832,877 (GRCm39)	T241A	probably damaging	Het
Erap1	C	A	13: 74,814,291 (GRCm39)	T25K	probably damaging	Het
Fras1	A	G	5: 96,906,007 (GRCm39)	E3137G	probably benign	Het
Fryl	C	T	5: 73,179,844 (GRCm39)		probably null	Het
Gldc	T	G	19: 30,078,165 (GRCm39)	D944A	possibly damaging	Het
Grm5	A	G	7: 87,689,267 (GRCm39)	Y546C	probably damaging	Het
Igkv1-122	G	A	6: 67,993,728 (GRCm39)	M1I	probably null	Het
Jag2	G	A	12: 112,879,969 (GRCm39)	P380S	possibly damaging	Het
Kcnc2	T	C	10: 112,108,311 (GRCm39)		probably null	Het
Kmt2a	T	C	9: 44,736,781 (GRCm39)		probably benign	Het
Lrrc55	A	G	2: 85,022,333 (GRCm39)	V286A	probably damaging	Het
Mllt10	C	A	2: 18,127,128 (GRCm39)	H82N	probably damaging	Het
Myh11	C	A	16: 14,039,639 (GRCm39)	R837L	probably damaging	Het
Nsg1	C	A	5: 38,313,035 (GRCm39)	D55Y	probably damaging	Het
Nup107	C	A	10: 117,617,247 (GRCm39)	R221M	probably damaging	Het
Nup153	G	T	13: 46,837,583 (GRCm39)	A1213D	possibly damaging	Het
Ovgp1	G	A	3: 105,885,665 (GRCm39)	G174S	probably damaging	Het
Papss2	C	T	19: 32,629,482 (GRCm39)	A357V	probably benign	Het
Pclo	A	G	5: 14,763,881 (GRCm39)	K4118R	unknown	Het
Pde2a	T	C	7: 101,156,918 (GRCm39)	I628T	possibly damaging	Het
Pla2r1	A	G	2: 60,325,708 (GRCm39)	W521R	probably damaging	Het
Pld1	A	T	3: 28,153,813 (GRCm39)	Q744L	probably damaging	Het
Pnpo	T	A	11: 96,829,775 (GRCm39)	E251V	possibly damaging	Het
Rdh10	C	T	1: 16,178,246 (GRCm39)	H173Y	possibly damaging	Het
Sgpp2	A	T	1: 78,393,533 (GRCm39)	I179F	probably damaging	Het
Slc11a1	C	T	1: 74,423,899 (GRCm39)	P409L	probably damaging	Het
Slc35b4	T	A	6: 34,135,364 (GRCm39)	N316I	probably benign	Het
Snrnp200	A	G	2: 127,064,148 (GRCm39)	I712V	probably benign	Het
Spr	T	C	6: 85,111,222 (GRCm39)	D216G	possibly damaging	Het
Sri	G	A	5: 8,113,755 (GRCm39)		probably null	Het
Tas2r124	T	C	6: 132,732,332 (GRCm39)	S214P	probably damaging	Het
Tg	T	A	15: 66,549,936 (GRCm39)	S233T	probably damaging	Het
Tgfbr3	A	T	5: 107,269,279 (GRCm39)		probably benign	Het
Vmn2r45	A	G	7: 8,486,337 (GRCm39)	F317S	probably benign	Het
Vmn2r99	C	A	17: 19,613,920 (GRCm39)		probably benign	Het
Zfp957	T	C	14: 79,451,331 (GRCm39)	E156G	probably benign	Het

Other mutations in Ccdc192

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Ccdc192	APN	18	57,727,158 (GRCm39)	missense	probably damaging	0.98
R0115:Ccdc192	UTSW	18	57,727,214 (GRCm39)	splice site	probably benign
R0285:Ccdc192	UTSW	18	57,666,937 (GRCm39)	missense	probably damaging	0.99
R1087:Ccdc192	UTSW	18	57,863,870 (GRCm39)	missense	probably damaging	0.96
R1923:Ccdc192	UTSW	18	57,666,959 (GRCm39)	missense	probably damaging	0.99
R4927:Ccdc192	UTSW	18	57,863,888 (GRCm39)	nonsense	probably null
R5133:Ccdc192	UTSW	18	57,697,041 (GRCm39)	missense	possibly damaging	0.92
R5508:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R5509:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R5510:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R5511:Ccdc192	UTSW	18	57,671,156 (GRCm39)	splice site	probably null
R6629:Ccdc192	UTSW	18	57,863,852 (GRCm39)	missense	possibly damaging	0.53
R7089:Ccdc192	UTSW	18	57,725,059 (GRCm39)	missense	probably benign	0.11
R7545:Ccdc192	UTSW	18	57,863,895 (GRCm39)	missense	probably damaging	0.98
R7700:Ccdc192	UTSW	18	57,696,388 (GRCm39)	splice site	probably null
R8045:Ccdc192	UTSW	18	57,863,991 (GRCm39)	missense	probably damaging	0.99
R8098:Ccdc192	UTSW	18	57,800,403 (GRCm39)	missense	probably benign	0.02
R8973:Ccdc192	UTSW	18	57,725,139 (GRCm39)	missense	possibly damaging	0.55
R9011:Ccdc192	UTSW	18	57,800,376 (GRCm39)	missense	possibly damaging	0.61
X0021:Ccdc192	UTSW	18	57,727,197 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21