Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01366:Ccdc162'

75949

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 #

IGL01366

Quality Score

Status

Chromosome

Chromosomal Location

41414838-41592586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41456302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1613 (D1613E)

Ref Sequence

ENSEMBL: ENSMUSP00000140774 (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

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: D150E

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: D150E

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: D340E

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: D340E

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

possibly damaging
Transcript: ENSMUST00000189488
AA Change: D1613E

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: D1613E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219054
AA Change: D340E

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,868,937 (GRCm39)		probably benign	Het
Adamts2	T	C	11: 50,687,295 (GRCm39)	Y1041H	probably damaging	Het
Adck5	A	C	15: 76,479,816 (GRCm39)	*568C	probably null	Het
AK157302	T	A	13: 21,679,471 (GRCm39)		probably benign	Het
Bmpr2	G	T	1: 59,852,836 (GRCm39)	G56W	probably damaging	Het
Capn11	A	C	17: 45,964,126 (GRCm39)	I146S	probably damaging	Het
Ccdc167	T	C	17: 29,924,286 (GRCm39)	E50G	probably damaging	Het
Col5a2	G	T	1: 45,431,048 (GRCm39)	P864Q	possibly damaging	Het
Col7a1	C	T	9: 108,806,187 (GRCm39)		probably benign	Het
Crebbp	T	A	16: 3,944,370 (GRCm39)	H556L	probably damaging	Het
Dcpp1	T	A	17: 24,101,710 (GRCm39)	I153N	possibly damaging	Het
Dgke	C	T	11: 88,946,212 (GRCm39)	R196H	probably benign	Het
Efr3a	T	A	15: 65,722,999 (GRCm39)	I459K	probably benign	Het
Espl1	T	A	15: 102,228,271 (GRCm39)	C1682S	probably benign	Het
Exosc3	C	T	4: 45,317,747 (GRCm39)	R185H	probably damaging	Het
Fgd6	T	C	10: 93,879,338 (GRCm39)	V64A	possibly damaging	Het
Fhip2b	G	A	14: 70,822,813 (GRCm39)	R688C	probably damaging	Het
Gata3	A	G	2: 9,882,276 (GRCm39)	L42P	probably damaging	Het
Ggta1	C	A	2: 35,292,462 (GRCm39)	E282*	probably null	Het
Ghr	T	C	15: 3,349,669 (GRCm39)	D503G	probably damaging	Het
Gls	C	T	1: 52,207,558 (GRCm39)	G602D	probably damaging	Het
Gm2058	A	G	7: 39,238,658 (GRCm39)		noncoding transcript	Het
Grb7	T	C	11: 98,343,100 (GRCm39)		probably benign	Het
Ifngr1	A	T	10: 19,485,348 (GRCm39)	H449L	probably damaging	Het
Ighg2b	T	G	12: 113,270,656 (GRCm39)	D158A	possibly damaging	Het
Nphs2	T	C	1: 156,138,605 (GRCm39)	V83A	probably benign	Het
Parp6	T	A	9: 59,543,996 (GRCm39)	M390K	possibly damaging	Het
Pask	T	C	1: 93,238,574 (GRCm39)	K1304E	probably benign	Het
Scai	A	G	2: 38,996,973 (GRCm39)	S274P	probably benign	Het
Sik2	A	G	9: 50,818,763 (GRCm39)	S404P	probably damaging	Het
Slc7a8	A	T	14: 55,018,645 (GRCm39)	I47N	probably damaging	Het
Tas2r113	A	T	6: 132,870,760 (GRCm39)	I263F	probably benign	Het
Tdrd1	T	A	19: 56,843,734 (GRCm39)	D737E	probably benign	Het
Trio	T	C	15: 27,732,954 (GRCm39)	T2976A	possibly damaging	Het
Ttc28	T	C	5: 111,233,037 (GRCm39)		probably null	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	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
IGL01924:Ccdc162	APN	10	41,445,883 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07