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

5033413D22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41569887 bp (GRCm38)

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: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019		probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	Het

Other mutations in Ccdc162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Ccdc162	APN	10	41581339	missense	probably benign	0.01
IGL01366:Ccdc162	APN	10	41580306	missense	possibly damaging	0.49
IGL02504:Ccdc162	APN	10	41552388	missense	probably damaging	1.00
IGL02678:Ccdc162	APN	10	41561155	missense	probably damaging	0.99
IGL02955:Ccdc162	APN	10	41561127	missense	probably damaging	1.00
beeswax	UTSW	10	41561226	missense	possibly damaging	0.57
honeycomb	UTSW	10	41644641	missense	probably benign	0.35
FR4304:Ccdc162	UTSW	10	41556121	missense	possibly damaging	0.49
R0432:Ccdc162	UTSW	10	41541860	missense	probably benign	0.01
R0585:Ccdc162	UTSW	10	41586379	missense	probably benign	0.03
R0645:Ccdc162	UTSW	10	41586411	splice site	probably benign
R0731:Ccdc162	UTSW	10	41579143	missense	probably damaging	1.00
R1426:Ccdc162	UTSW	10	41553182	missense	possibly damaging	0.89
R1447:Ccdc162	UTSW	10	41580247	missense	probably damaging	1.00
R1712:Ccdc162	UTSW	10	41539431	missense	probably benign	0.35
R2138:Ccdc162	UTSW	10	41581297	missense	probably benign	0.15
R2351:Ccdc162	UTSW	10	41555972	critical splice donor site	probably null
R2394:Ccdc162	UTSW	10	41569898	missense	probably damaging	1.00
R2431:Ccdc162	UTSW	10	41569845	missense	probably benign
R2571:Ccdc162	UTSW	10	41552397	missense	probably damaging	1.00
R2873:Ccdc162	UTSW	10	41655099	missense	possibly damaging	0.68
R2926:Ccdc162	UTSW	10	41561207	start gained	probably benign
R2999:Ccdc162	UTSW	10	41580290	missense	probably benign	0.00
R3412:Ccdc162	UTSW	10	41539549	splice site	probably benign
R3712:Ccdc162	UTSW	10	41587379	missense	probably benign
R3736:Ccdc162	UTSW	10	41589568	splice site	probably null
R4112:Ccdc162	UTSW	10	41656328	missense	possibly damaging	0.77
R4557:Ccdc162	UTSW	10	41587388	missense	probably benign	0.01
R4580:Ccdc162	UTSW	10	41561140	missense	probably benign	0.02
R4685:Ccdc162	UTSW	10	41681686	missense	possibly damaging	0.89
R4837:Ccdc162	UTSW	10	41673867	missense	probably benign	0.00
R5155:Ccdc162	UTSW	10	41553580	splice site	probably null
R5155:Ccdc162	UTSW	10	41579151	missense	probably damaging	1.00
R5645:Ccdc162	UTSW	10	41552356	missense	probably benign	0.06
R5656:Ccdc162	UTSW	10	41569934	missense	probably benign	0.26
R5682:Ccdc162	UTSW	10	41556803	nonsense	probably null
R5808:Ccdc162	UTSW	10	41655504	missense	possibly damaging	0.62
R5909:Ccdc162	UTSW	10	41561115	missense	probably damaging	1.00
R6000:Ccdc162	UTSW	10	41561163	missense	possibly damaging	0.75
R6057:Ccdc162	UTSW	10	41634041	missense	possibly damaging	0.72
R6211:Ccdc162	UTSW	10	41630145	nonsense	probably null
R6264:Ccdc162	UTSW	10	41694468	missense	probably benign	0.31
R6329:Ccdc162	UTSW	10	41663151	missense	possibly damaging	0.76
R6349:Ccdc162	UTSW	10	41694400	missense	probably damaging	0.97
R6398:Ccdc162	UTSW	10	41627149	missense	probably damaging	1.00
R6453:Ccdc162	UTSW	10	41550825	missense	probably damaging	1.00
R6602:Ccdc162	UTSW	10	41615980	missense	probably benign	0.00
R6627:Ccdc162	UTSW	10	41663185	missense	probably damaging	1.00
R6722:Ccdc162	UTSW	10	41644641	missense	probably benign	0.35
R6750:Ccdc162	UTSW	10	41561226	missense	possibly damaging	0.57
R6968:Ccdc162	UTSW	10	41673844	missense	possibly damaging	0.55
R6970:Ccdc162	UTSW	10	41615958	missense	probably benign	0.03
R6989:Ccdc162	UTSW	10	41581353	missense	probably damaging	0.99
R7008:Ccdc162	UTSW	10	41552415	missense	probably damaging	1.00
R7135:Ccdc162	UTSW	10	41673859	missense	probably benign	0.00
R7139:Ccdc162	UTSW	10	41666721	missense	possibly damaging	0.49
R7224:Ccdc162	UTSW	10	41561191	missense	probably damaging	1.00
R7230:Ccdc162	UTSW	10	41678813	missense	probably damaging	1.00
R7256:Ccdc162	UTSW	10	41556001	missense	probably damaging	0.99
R7261:Ccdc162	UTSW	10	41561140	missense	probably benign	0.02
R7390:Ccdc162	UTSW	10	41634048	missense	probably benign
R7712:Ccdc162	UTSW	10	41627227	missense	possibly damaging	0.56
R7726:Ccdc162	UTSW	10	41553075	missense	probably benign	0.00
R7754:Ccdc162	UTSW	10	41587375	missense	probably damaging	1.00
R7764:Ccdc162	UTSW	10	41690113	missense	possibly damaging	0.95
R8053:Ccdc162	UTSW	10	41644581	missense	probably benign
R8088:Ccdc162	UTSW	10	41623414	missense	possibly damaging	0.68
R8094:Ccdc162	UTSW	10	41612868	missense	probably benign	0.02
R8097:Ccdc162	UTSW	10	41634119	missense	probably benign	0.03
R8321:Ccdc162	UTSW	10	41634033	missense	probably damaging	0.98
R8377:Ccdc162	UTSW	10	41581310	missense	probably benign	0.08
R8399:Ccdc162	UTSW	10	41539521	missense	probably damaging	1.00
R8669:Ccdc162	UTSW	10	41552356	missense	probably benign	0.06
R8772:Ccdc162	UTSW	10	41630037	missense	probably damaging	0.99
R8810:Ccdc162	UTSW	10	41666741	missense	probably benign	0.41
R8903:Ccdc162	UTSW	10	41655444	critical splice donor site	probably null
R8928:Ccdc162	UTSW	10	41586249	splice site	probably benign
R8950:Ccdc162	UTSW	10	41598511	missense	probably benign	0.00
R8960:Ccdc162	UTSW	10	41553182	missense	probably damaging	0.96
R8985:Ccdc162	UTSW	10	41556106	missense	probably damaging	1.00
R9071:Ccdc162	UTSW	10	41581178	nonsense	probably null
R9254:Ccdc162	UTSW	10	41612948	critical splice acceptor site	probably null
R9297:Ccdc162	UTSW	10	41630114	missense	probably benign
R9318:Ccdc162	UTSW	10	41630114	missense	probably benign
R9518:Ccdc162	UTSW	10	41589576	missense	probably damaging	1.00
R9525:Ccdc162	UTSW	10	41683226	missense	probably damaging	0.99
R9539:Ccdc162	UTSW	10	41587411	missense	possibly damaging	0.54
R9638:Ccdc162	UTSW	10	41561163	missense	probably benign	0.01
Z1176:Ccdc162	UTSW	10	41553131	missense	probably benign	0.00
Z1176:Ccdc162	UTSW	10	41605108	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41654997	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41690092	missense	probably benign	0.00
Z1177:Ccdc162	UTSW	10	41683195	missense	probably benign	0.00

Posted On

2014-05-07