Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01013:Ccdc162'

53806

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

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41581339 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1534 (P1534L)

Ref Sequence

ENSEMBL: ENSMUSP00000140774 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000095227

SMART Domains

Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099932
AA Change: P71L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: P71L

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: ENSMUST00000160751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170047

Predicted Effect

probably benign
Transcript: ENSMUST00000179614
AA Change: P261L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: P261L

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 benign
Transcript: ENSMUST00000189488
AA Change: P1534L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: P1534L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219054
AA Change: P261L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,886,206	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185	L2059*	probably null	Het
Ankar	T	A	1: 72,650,989	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,949,476	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,323,087	R1103L	probably benign	Het
B4galt6	A	G	18: 20,689,013	V308A	probably damaging	Het
Ccdc78	A	G	17: 25,789,054	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,740,869	R141*	probably null	Het
Cpsf1	G	A	15: 76,599,297	Q883*	probably null	Het
Crot	A	G	5: 8,993,575	Y16H	probably benign	Het
Cyld	T	G	8: 88,742,362	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,031,395		probably null	Het
Fam89b	G	T	19: 5,729,369	D53E	probably benign	Het
Fig4	T	C	10: 41,267,786	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230	Y184F	probably damaging	Het
Hp	C	A	8: 109,579,021		probably benign	Het
Igsf9b	G	T	9: 27,334,304	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,399,691	N620D	possibly damaging	Het
Jakmip3	A	C	7: 139,017,573	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,370,517	I413K	probably damaging	Het
Letm1	A	T	5: 33,762,590	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,135	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,827,526		probably benign	Het
Mcidas	T	A	13: 112,997,585		probably benign	Het
Mme	A	G	3: 63,327,860		probably null	Het
Mrc1	T	C	2: 14,328,425	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 4,030,716	Q473K	probably damaging	Het
Muc6	A	T	7: 141,648,066	C719*	probably null	Het
Nsun7	T	C	5: 66,283,601	I355T	possibly damaging	Het
Padi6	A	G	4: 140,729,003	L560P	probably damaging	Het
Parl	C	A	16: 20,282,790	A285S	possibly damaging	Het
Pclo	A	T	5: 14,793,834	M4795L	unknown	Het
Polr2f	A	G	15: 79,146,129	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,404,383	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,284,227	D44G	probably benign	Het
Slc25a16	A	G	10: 62,944,433		probably null	Het
Snrnp200	G	A	2: 127,232,472	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,625,065	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,201,959		probably null	Het
Tcf7l2	T	C	19: 55,919,627		probably benign	Het
Tnrc6c	G	T	11: 117,722,029	V498L	probably benign	Het
Tymp	G	A	15: 89,376,310	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,535,497	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,839,956	I41T	probably damaging	Het

Other mutations in Ccdc162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Ccdc162	APN	10	41580306	missense	possibly damaging	0.49
IGL01924:Ccdc162	APN	10	41569887	missense	probably damaging	1.00
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
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
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

2013-06-28