Mutagenetix > Incidental Mutation

Incidental Mutation 'R9539:Ccdc162'

719814

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

Gm29096, Gm6976, 5033413D22Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9539 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41414838-41592586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41463407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1445 (E1445V)

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: 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

possibly damaging
Transcript: ENSMUST00000179614
AA Change: E172V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: E172V

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: E1445V

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: E1445V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219054
AA Change: E172V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	G	A	8: 41,827,584 (GRCm39)	A13V	probably benign	Het
Bdh1	A	G	16: 31,273,914 (GRCm39)	T160A	probably benign	Het
Ccdc115	C	T	1: 34,477,930 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,901,993 (GRCm39)	E1215G	possibly damaging	Het
Cep290	A	T	10: 100,404,713 (GRCm39)	E2358D	probably damaging	Het
Cog6	A	G	3: 52,914,722 (GRCm39)	S245P	probably benign	Het
Copb2	A	T	9: 98,467,983 (GRCm39)		probably null	Het
Crtc1	T	A	8: 70,892,115 (GRCm39)	M32L	probably benign	Het
Dagla	A	C	19: 10,228,429 (GRCm39)		probably null	Het
Dph5	C	A	3: 115,722,305 (GRCm39)	P261Q	probably damaging	Het
Gpr137c	T	C	14: 45,516,187 (GRCm39)	V307A	probably damaging	Het
Herpud2	A	G	9: 25,041,936 (GRCm39)	Y79H	probably damaging	Het
Ighg2b	C	T	12: 113,270,498 (GRCm39)	V211I		Het
Meioc	C	T	11: 102,565,506 (GRCm39)	T318M	probably damaging	Het
Mterf4	T	C	1: 93,229,188 (GRCm39)	Y275C	unknown	Het
Mtfr1	T	C	3: 19,271,422 (GRCm39)	V198A	probably benign	Het
Ogfrl1	T	A	1: 23,415,322 (GRCm39)	I138F	probably damaging	Het
Pacc1	C	T	1: 191,077,174 (GRCm39)	Q166*	probably null	Het
Pf4	T	A	5: 90,920,891 (GRCm39)	V73D	possibly damaging	Het
Phldb1	T	C	9: 44,627,482 (GRCm39)	E321G	probably damaging	Het
Plch1	T	C	3: 63,691,427 (GRCm39)	S59G	probably null	Het
Pmfbp1	A	G	8: 110,240,537 (GRCm39)	I206M	probably damaging	Het
Ppp1r15a	A	G	7: 45,174,658 (GRCm39)	V50A	probably damaging	Het
Ptprs	T	C	17: 56,725,715 (GRCm39)	H1496R	probably benign	Het
Sardh	T	A	2: 27,134,298 (GRCm39)	I73F	probably damaging	Het
Serpind1	G	A	16: 17,157,638 (GRCm39)	W278*	probably null	Het
Slit3	C	T	11: 35,589,155 (GRCm39)	Q1237*	probably null	Het
Smg1	T	C	7: 117,744,976 (GRCm39)	I3059V	probably benign	Het
Spart	T	A	3: 55,034,924 (GRCm39)	W437R	probably damaging	Het
Spata6	C	G	4: 111,685,526 (GRCm39)	A477G	possibly damaging	Het
Suox	A	G	10: 128,507,383 (GRCm39)	F215S	probably damaging	Het
Tcaf1	T	C	6: 42,655,683 (GRCm39)	N431S	probably benign	Het
Tgfbr3l	G	A	8: 4,299,679 (GRCm39)	R154H	probably damaging	Het
Tll1	T	C	8: 64,494,457 (GRCm39)	K766R	probably damaging	Het
Tmem63b	T	A	17: 45,984,105 (GRCm39)	K255*	probably null	Het
Tmem67	A	T	4: 12,045,814 (GRCm39)	L881H	probably damaging	Het
Tmem67	G	T	4: 12,045,815 (GRCm39)	L881I	probably damaging	Het
Tnrc6b	A	G	15: 80,760,544 (GRCm39)	S84G	probably damaging	Het
Traf7	C	T	17: 24,729,333 (GRCm39)	V465M	probably damaging	Het
Ttn	C	T	2: 76,618,568 (GRCm39)	V16239I	probably damaging	Het
Unc80	T	C	1: 66,609,163 (GRCm39)		probably null	Het
Zc3h11a	T	C	1: 133,554,927 (GRCm39)	E351G	probably benign	Het
Zfp942	T	A	17: 22,148,014 (GRCm39)	H205L	probably 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
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
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'- ACCTCAGGTTACAGCGTCAC -3'
(R):5'- AGTAATAATCACTGCTACCCCTTC -3'

Sequencing Primer
(F):5'- GGTTACAGCGTCACGATTAAAC -3'
(R):5'- CTGGCATGCTCCAATGAGAAG -3'

Posted On

2022-07-18