Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Ccdc162'

180188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

Gm29096, Gm6976, 5033413D22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

41414838-41592586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41445883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 430 (F430V)

Ref Sequence

ENSEMBL: ENSMUSP00000151415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019955] [ENSMUST00000099932] [ENSMUST00000179614] [ENSMUST00000189488] [ENSMUST00000219054]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019955

SMART Domains

Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225

Domain	Start	End	E-Value	Type
coiled coil region	1	37	N/A	INTRINSIC
low complexity region	116	138	N/A	INTRINSIC
coiled coil region	177	217	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000095227
AA Change: F53V

SMART Domains

Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: F53V

Domain	Start	End	E-Value	Type
coiled coil region	140	179	N/A	INTRINSIC
low complexity region	304	326	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099932
AA Change: F240V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: F240V

Domain	Start	End	E-Value	Type
coiled coil region	327	366	N/A	INTRINSIC
low complexity region	490	512	N/A	INTRINSIC
coiled coil region	551	607	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170047

Predicted Effect

probably damaging
Transcript: ENSMUST00000179614
AA Change: F430V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: F430V

Domain	Start	End	E-Value	Type
coiled coil region	517	556	N/A	INTRINSIC
low complexity region	680	702	N/A	INTRINSIC
coiled coil region	741	797	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189488
AA Change: F1703V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: F1703V

Domain	Start	End	E-Value	Type
low complexity region	328	347	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000219054
AA Change: F430V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,362,047 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Aox1	C	T	1: 58,326,902 (GRCm39)	T167I	possibly damaging	Het
Apba3	G	T	10: 81,108,907 (GRCm39)	A557S	probably benign	Het
Atad2b	T	C	12: 5,084,093 (GRCm39)	L1382P	probably damaging	Het
Atrn	C	T	2: 130,777,485 (GRCm39)	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,002,630 (GRCm39)	S88G	probably benign	Het
Baz2b	T	C	2: 59,765,615 (GRCm39)	K887E	probably damaging	Het
Castor2	T	C	5: 134,164,441 (GRCm39)	F134S	probably benign	Het
Cdc42bpb	T	A	12: 111,283,887 (GRCm39)		probably benign	Het
Cfhr4	G	A	1: 139,666,944 (GRCm39)	L444F	probably damaging	Het
Chit1	A	G	1: 134,077,148 (GRCm39)	D317G	probably benign	Het
Chrnb1	A	T	11: 69,685,845 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,596 (GRCm39)	T620K	probably benign	Het
Creld1	T	C	6: 113,460,921 (GRCm39)	F20L	probably benign	Het
Csmd2	A	T	4: 128,453,740 (GRCm39)	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,309,439 (GRCm39)	D259G	probably benign	Het
Dbnl	A	G	11: 5,747,142 (GRCm39)	Y224C	probably damaging	Het
Det1	A	T	7: 78,493,571 (GRCm39)	C144*	probably null	Het
Fbxo47	G	T	11: 97,746,986 (GRCm39)	A360D	probably damaging	Het
Frrs1	G	A	3: 116,678,888 (GRCm39)	G237R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gria2	T	C	3: 80,617,638 (GRCm39)	T372A	probably benign	Het
Hmcn2	A	T	2: 31,288,929 (GRCm39)	Q2246L	probably benign	Het
Ide	T	C	19: 37,249,563 (GRCm39)	M930V	unknown	Het
Kdm5a	T	C	6: 120,371,216 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,132,426 (GRCm39)	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,221,169 (GRCm39)	F209L	possibly damaging	Het
Med13	C	A	11: 86,199,522 (GRCm39)		probably benign	Het
Myom2	A	G	8: 15,119,685 (GRCm39)	E147G	probably benign	Het
Myrip	T	A	9: 120,217,330 (GRCm39)	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,460,482 (GRCm39)	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,020,255 (GRCm39)	C247*	probably null	Het
Nup54	G	A	5: 92,572,294 (GRCm39)	P252L	probably benign	Het
Or51ag1	A	G	7: 103,156,003 (GRCm39)	I50T	possibly damaging	Het
Otoa	C	A	7: 120,705,191 (GRCm39)	N244K	probably damaging	Het
Pbrm1	G	A	14: 30,804,561 (GRCm39)	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,875,411 (GRCm39)	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,106,134 (GRCm39)	L233H	probably damaging	Het
Sec24c	T	A	14: 20,739,757 (GRCm39)	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,240,686 (GRCm39)		probably null	Het
Slitrk1	G	A	14: 109,148,671 (GRCm39)	A680V	probably benign	Het
Smpd1	C	T	7: 105,204,655 (GRCm39)	S178L	probably benign	Het
Spindoc	A	G	19: 7,360,042 (GRCm39)	L42P	probably damaging	Het
Tenm4	A	G	7: 96,544,419 (GRCm39)	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,746,501 (GRCm39)	A18E	probably damaging	Het
Tmem213	A	T	6: 38,086,373 (GRCm39)	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,667,800 (GRCm39)	I102L	probably benign	Het
Trip11	T	G	12: 101,853,143 (GRCm39)	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr27	T	G	17: 15,137,488 (GRCm39)	K433N	probably damaging	Het
Wls	C	A	3: 159,607,080 (GRCm39)	S189*	probably null	Het
Yeats2	A	G	16: 20,024,917 (GRCm39)	N706D	probably damaging	Het
Zbp1	A	G	2: 173,054,047 (GRCm39)	V158A	probably benign	Het
Zfp595	G	T	13: 67,465,847 (GRCm39)	H139N	possibly damaging	Het

Other mutations in Ccdc162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Ccdc162	APN	10	41,457,335 (GRCm39)	missense	probably benign	0.01
IGL01366:Ccdc162	APN	10	41,456,302 (GRCm39)	missense	possibly damaging	0.49
IGL02504:Ccdc162	APN	10	41,428,384 (GRCm39)	missense	probably damaging	1.00
IGL02678:Ccdc162	APN	10	41,437,151 (GRCm39)	missense	probably damaging	0.99
IGL02955:Ccdc162	APN	10	41,437,123 (GRCm39)	missense	probably damaging	1.00
beeswax	UTSW	10	41,437,222 (GRCm39)	missense	possibly damaging	0.57
honeycomb	UTSW	10	41,520,637 (GRCm39)	missense	probably benign	0.35
FR4304:Ccdc162	UTSW	10	41,432,117 (GRCm39)	missense	possibly damaging	0.49
R0432:Ccdc162	UTSW	10	41,417,856 (GRCm39)	missense	probably benign	0.01
R0585:Ccdc162	UTSW	10	41,462,375 (GRCm39)	missense	probably benign	0.03
R0645:Ccdc162	UTSW	10	41,462,407 (GRCm39)	splice site	probably benign
R0731:Ccdc162	UTSW	10	41,455,139 (GRCm39)	missense	probably damaging	1.00
R1426:Ccdc162	UTSW	10	41,429,178 (GRCm39)	missense	possibly damaging	0.89
R1447:Ccdc162	UTSW	10	41,456,243 (GRCm39)	missense	probably damaging	1.00
R1712:Ccdc162	UTSW	10	41,415,427 (GRCm39)	missense	probably benign	0.35
R2138:Ccdc162	UTSW	10	41,457,293 (GRCm39)	missense	probably benign	0.15
R2351:Ccdc162	UTSW	10	41,431,968 (GRCm39)	critical splice donor site	probably null
R2394:Ccdc162	UTSW	10	41,445,894 (GRCm39)	missense	probably damaging	1.00
R2431:Ccdc162	UTSW	10	41,445,841 (GRCm39)	missense	probably benign
R2571:Ccdc162	UTSW	10	41,428,393 (GRCm39)	missense	probably damaging	1.00
R2873:Ccdc162	UTSW	10	41,531,095 (GRCm39)	missense	possibly damaging	0.68
R2926:Ccdc162	UTSW	10	41,437,203 (GRCm39)	start gained	probably benign
R2999:Ccdc162	UTSW	10	41,456,286 (GRCm39)	missense	probably benign	0.00
R3412:Ccdc162	UTSW	10	41,415,545 (GRCm39)	splice site	probably benign
R3712:Ccdc162	UTSW	10	41,463,375 (GRCm39)	missense	probably benign
R3736:Ccdc162	UTSW	10	41,465,564 (GRCm39)	splice site	probably null
R4112:Ccdc162	UTSW	10	41,532,324 (GRCm39)	missense	possibly damaging	0.77
R4557:Ccdc162	UTSW	10	41,463,384 (GRCm39)	missense	probably benign	0.01
R4580:Ccdc162	UTSW	10	41,437,136 (GRCm39)	missense	probably benign	0.02
R4685:Ccdc162	UTSW	10	41,557,682 (GRCm39)	missense	possibly damaging	0.89
R4837:Ccdc162	UTSW	10	41,549,863 (GRCm39)	missense	probably benign	0.00
R5155:Ccdc162	UTSW	10	41,455,147 (GRCm39)	missense	probably damaging	1.00
R5155:Ccdc162	UTSW	10	41,429,576 (GRCm39)	splice site	probably null
R5645:Ccdc162	UTSW	10	41,428,352 (GRCm39)	missense	probably benign	0.06
R5656:Ccdc162	UTSW	10	41,445,930 (GRCm39)	missense	probably benign	0.26
R5682:Ccdc162	UTSW	10	41,432,799 (GRCm39)	nonsense	probably null
R5808:Ccdc162	UTSW	10	41,531,500 (GRCm39)	missense	possibly damaging	0.62
R5909:Ccdc162	UTSW	10	41,437,111 (GRCm39)	missense	probably damaging	1.00
R6000:Ccdc162	UTSW	10	41,437,159 (GRCm39)	missense	possibly damaging	0.75
R6057:Ccdc162	UTSW	10	41,510,037 (GRCm39)	missense	possibly damaging	0.72
R6211:Ccdc162	UTSW	10	41,506,141 (GRCm39)	nonsense	probably null
R6264:Ccdc162	UTSW	10	41,570,464 (GRCm39)	missense	probably benign	0.31
R6329:Ccdc162	UTSW	10	41,539,147 (GRCm39)	missense	possibly damaging	0.76
R6349:Ccdc162	UTSW	10	41,570,396 (GRCm39)	missense	probably damaging	0.97
R6398:Ccdc162	UTSW	10	41,503,145 (GRCm39)	missense	probably damaging	1.00
R6453:Ccdc162	UTSW	10	41,426,821 (GRCm39)	missense	probably damaging	1.00
R6602:Ccdc162	UTSW	10	41,491,976 (GRCm39)	missense	probably benign	0.00
R6627:Ccdc162	UTSW	10	41,539,181 (GRCm39)	missense	probably damaging	1.00
R6722:Ccdc162	UTSW	10	41,520,637 (GRCm39)	missense	probably benign	0.35
R6750:Ccdc162	UTSW	10	41,437,222 (GRCm39)	missense	possibly damaging	0.57
R6968:Ccdc162	UTSW	10	41,549,840 (GRCm39)	missense	possibly damaging	0.55
R6970:Ccdc162	UTSW	10	41,491,954 (GRCm39)	missense	probably benign	0.03
R6989:Ccdc162	UTSW	10	41,457,349 (GRCm39)	missense	probably damaging	0.99
R7008:Ccdc162	UTSW	10	41,428,411 (GRCm39)	missense	probably damaging	1.00
R7135:Ccdc162	UTSW	10	41,549,855 (GRCm39)	missense	probably benign	0.00
R7139:Ccdc162	UTSW	10	41,542,717 (GRCm39)	missense	possibly damaging	0.49
R7224:Ccdc162	UTSW	10	41,437,187 (GRCm39)	missense	probably damaging	1.00
R7230:Ccdc162	UTSW	10	41,554,809 (GRCm39)	missense	probably damaging	1.00
R7256:Ccdc162	UTSW	10	41,431,997 (GRCm39)	missense	probably damaging	0.99
R7261:Ccdc162	UTSW	10	41,437,136 (GRCm39)	missense	probably benign	0.02
R7390:Ccdc162	UTSW	10	41,510,044 (GRCm39)	missense	probably benign
R7712:Ccdc162	UTSW	10	41,503,223 (GRCm39)	missense	possibly damaging	0.56
R7726:Ccdc162	UTSW	10	41,429,071 (GRCm39)	missense	probably benign	0.00
R7754:Ccdc162	UTSW	10	41,463,371 (GRCm39)	missense	probably damaging	1.00
R7764:Ccdc162	UTSW	10	41,566,109 (GRCm39)	missense	possibly damaging	0.95
R8053:Ccdc162	UTSW	10	41,520,577 (GRCm39)	missense	probably benign
R8088:Ccdc162	UTSW	10	41,499,410 (GRCm39)	missense	possibly damaging	0.68
R8094:Ccdc162	UTSW	10	41,488,864 (GRCm39)	missense	probably benign	0.02
R8097:Ccdc162	UTSW	10	41,510,115 (GRCm39)	missense	probably benign	0.03
R8321:Ccdc162	UTSW	10	41,510,029 (GRCm39)	missense	probably damaging	0.98
R8377:Ccdc162	UTSW	10	41,457,306 (GRCm39)	missense	probably benign	0.08
R8399:Ccdc162	UTSW	10	41,415,517 (GRCm39)	missense	probably damaging	1.00
R8669:Ccdc162	UTSW	10	41,428,352 (GRCm39)	missense	probably benign	0.06
R8772:Ccdc162	UTSW	10	41,506,033 (GRCm39)	missense	probably damaging	0.99
R8810:Ccdc162	UTSW	10	41,542,737 (GRCm39)	missense	probably benign	0.41
R8903:Ccdc162	UTSW	10	41,531,440 (GRCm39)	critical splice donor site	probably null
R8928:Ccdc162	UTSW	10	41,462,245 (GRCm39)	splice site	probably benign
R8950:Ccdc162	UTSW	10	41,474,507 (GRCm39)	missense	probably benign	0.00
R8960:Ccdc162	UTSW	10	41,429,178 (GRCm39)	missense	probably damaging	0.96
R8985:Ccdc162	UTSW	10	41,432,102 (GRCm39)	missense	probably damaging	1.00
R9071:Ccdc162	UTSW	10	41,457,174 (GRCm39)	nonsense	probably null
R9254:Ccdc162	UTSW	10	41,488,944 (GRCm39)	critical splice acceptor site	probably null
R9297:Ccdc162	UTSW	10	41,506,110 (GRCm39)	missense	probably benign
R9318:Ccdc162	UTSW	10	41,506,110 (GRCm39)	missense	probably benign
R9518:Ccdc162	UTSW	10	41,465,572 (GRCm39)	missense	probably damaging	1.00
R9525:Ccdc162	UTSW	10	41,559,222 (GRCm39)	missense	probably damaging	0.99
R9539:Ccdc162	UTSW	10	41,463,407 (GRCm39)	missense	possibly damaging	0.54
R9638:Ccdc162	UTSW	10	41,437,159 (GRCm39)	missense	probably benign	0.01
Z1176:Ccdc162	UTSW	10	41,530,993 (GRCm39)	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41,481,104 (GRCm39)	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41,429,127 (GRCm39)	missense	probably benign	0.00
Z1176:Ccdc162	UTSW	10	41,566,088 (GRCm39)	missense	probably benign	0.00
Z1177:Ccdc162	UTSW	10	41,559,191 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07