Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Ccdc162'

529642

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

Gm29096, Gm6976, 5033413D22Rik

MMRRC Submission

044840-MU

Accession Numbers

Essential gene?

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

Stock #

R6722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41414838-41592586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41520637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 673 (N673S)

Ref Sequence

ENSEMBL: ENSMUSP00000140774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019955] [ENSMUST00000099932] [ENSMUST00000189488] [ENSMUST00000190522]

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: ENSMUST00000099932

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225

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

probably benign
Transcript: ENSMUST00000189488
AA Change: N673S

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: N673S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190522

SMART Domains

Protein: ENSMUSP00000140852
Gene: ENSMUSG00000100855

Domain	Start	End	E-Value	Type
Pfam:DUF4549	2	145	7.9e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190522

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,468,228 (GRCm39)	D131A	probably damaging	Het
Ank3	T	C	10: 69,826,074 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,085,617 (GRCm39)		probably benign	Het
Bmal2	T	A	6: 146,720,398 (GRCm39)	D187E	probably damaging	Het
Castor2	T	C	5: 134,164,458 (GRCm39)	S140P	probably benign	Het
Cd84	G	A	1: 171,700,344 (GRCm39)	V154M	probably damaging	Het
Celsr1	C	A	15: 85,790,115 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,441,914 (GRCm39)	L718R	probably damaging	Het
Cntnap5b	G	A	1: 100,406,211 (GRCm39)	V803M	probably damaging	Het
Col6a2	C	T	10: 76,450,392 (GRCm39)	V180I	probably damaging	Het
Coq4	A	T	2: 29,678,297 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,012,983 (GRCm39)	T389A	probably benign	Het
Dennd1c	T	C	17: 57,373,802 (GRCm39)	D587G	probably benign	Het
Dnaja4	A	G	9: 54,607,038 (GRCm39)	D9G	probably damaging	Het
Hes2	T	G	4: 152,244,834 (GRCm39)	L101R	probably damaging	Het
Icam2	A	G	11: 106,273,307 (GRCm39)	S2P	probably damaging	Het
Krt31	A	G	11: 99,939,254 (GRCm39)	L221P	probably damaging	Het
Lipm	A	T	19: 34,098,665 (GRCm39)	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,473,600 (GRCm39)		probably null	Het
Mbd2	T	A	18: 70,713,819 (GRCm39)	M216K	probably damaging	Het
Mrps33	T	C	6: 39,782,599 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,462,060 (GRCm39)	D1459G	probably damaging	Het
Ncapd3	T	C	9: 26,998,852 (GRCm39)	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,422,874 (GRCm39)	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,853,008 (GRCm39)	K71E	probably benign	Het
Or4f62	T	A	2: 111,987,227 (GRCm39)	N310K	probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pde4a	G	A	9: 21,122,521 (GRCm39)	A806T	probably damaging	Het
Pde4d	C	A	13: 109,769,432 (GRCm39)	S40*	probably null	Het
Pde4dip	G	A	3: 97,625,555 (GRCm39)	R1348*	probably null	Het
Pdx1	C	T	5: 147,207,310 (GRCm39)	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165 (GRCm39)	V120D	probably damaging	Het
Prss51	G	T	14: 64,332,508 (GRCm39)	C65F	probably damaging	Het
Pus10	G	A	11: 23,652,975 (GRCm39)	E195K	possibly damaging	Het
Pzp	T	A	6: 128,464,917 (GRCm39)	Q1319L	probably damaging	Het
Rbpms	G	T	8: 34,324,421 (GRCm39)	T101K	probably damaging	Het
Rundc3a	A	G	11: 102,290,775 (GRCm39)	N281S	possibly damaging	Het
Scml4	C	T	10: 42,736,728 (GRCm39)		probably benign	Het
Sez6	T	C	11: 77,844,528 (GRCm39)	V117A	probably damaging	Het
Sgsm2	A	C	11: 74,756,250 (GRCm39)	C366W	probably damaging	Het
Slc12a4	T	C	8: 106,670,882 (GRCm39)		probably null	Het
Smg5	C	T	3: 88,260,332 (GRCm39)	R641C	probably damaging	Het
Stxbp3	A	G	3: 108,723,762 (GRCm39)	Y150H	probably benign	Het
Thoc2l	T	A	5: 104,668,145 (GRCm39)	M889K	probably damaging	Het
Tkt	T	C	14: 30,291,041 (GRCm39)	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618 (GRCm39)	L781P	probably damaging	Het
Triobp	G	A	15: 78,885,765 (GRCm39)	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,720,948 (GRCm39)	V538A	possibly damaging	Het
Uba52rt	A	G	4: 3,973,386 (GRCm39)	Y59H	probably benign	Het
Vmn1r61	T	A	7: 5,613,687 (GRCm39)	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,844,512 (GRCm39)		probably null	Het
Zfp985	T	C	4: 147,667,528 (GRCm39)	V132A	probably benign	Het
Zswim3	T	A	2: 164,662,544 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTCTGAAACAGCACCTAG -3'
(R):5'- GTCACTGGCTCAGATCTACTG -3'

Sequencing Primer
(F):5'- TTATACTCAGGTGTAGCACAGGC -3'
(R):5'- CTGGCTCAGATCTACTGCAGAGATG -3'

Posted On

2018-08-01