Mutagenetix > Incidental Mutation

Incidental Mutation 'R4112:Ccdc162'

314469

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

Gm29096, Gm6976, 5033413D22Rik

MMRRC Submission

040989-MU

Accession Numbers

Essential gene?

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

Stock #

R4112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41414838-41592586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41532324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 450 (E450V)

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

possibly damaging
Transcript: ENSMUST00000189488
AA Change: E450V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: E450V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190522
AA Change: E450V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140852
Gene: ENSMUSG00000100855
AA Change: E450V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190522
AA Change: E450V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aamp	A	G	1: 74,320,386 (GRCm39)		probably benign	Het
Abcb4	A	G	5: 8,986,783 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,453,256 (GRCm39)	F24L	possibly damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Angpt2	T	A	8: 18,749,139 (GRCm39)	Q326L	probably damaging	Het
Armc9	T	A	1: 86,116,661 (GRCm39)	I327N	possibly damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
Ccdc7b	G	T	8: 129,811,708 (GRCm39)		probably benign	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Chia1	T	C	3: 106,035,844 (GRCm39)	L168P	probably damaging	Het
Cnot1	A	C	8: 96,500,246 (GRCm39)	L111V	probably damaging	Het
Col14a1	A	T	15: 55,226,955 (GRCm39)	N235I	unknown	Het
Col2a1	A	C	15: 97,881,582 (GRCm39)	L787R	probably benign	Het
Cyp3a25	A	T	5: 145,939,841 (GRCm39)	D55E	probably benign	Het
Dennd6a	A	T	14: 26,349,673 (GRCm39)		probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,098 (GRCm39)	Y23H	probably damaging	Het
Gemin4	T	A	11: 76,103,645 (GRCm39)	E372V	probably damaging	Het
Glyr1	T	C	16: 4,836,350 (GRCm39)	K500E	possibly damaging	Het
Gm10271	A	T	10: 116,803,943 (GRCm39)		probably benign	Het
Gm20775	A	T	Y: 10,641,878 (GRCm39)		noncoding transcript	Het
Gm5578	A	G	6: 112,583,466 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,167 (GRCm39)	N234S	probably damaging	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Klf17	A	G	4: 117,617,898 (GRCm39)	V153A	possibly damaging	Het
L3mbtl2	T	C	15: 81,566,170 (GRCm39)	V331A	possibly damaging	Het
Med1	A	T	11: 98,070,913 (GRCm39)	V110E	probably damaging	Het
Nsmaf	A	C	4: 6,417,188 (GRCm39)	Y535*	probably null	Het
Pcdh10	G	A	3: 45,336,055 (GRCm39)	V790M	probably damaging	Het
Phlpp1	A	G	1: 106,292,068 (GRCm39)	T976A	probably damaging	Het
Prelid3a	T	C	18: 67,605,967 (GRCm39)	Y25H	probably damaging	Het
Ptprk	T	A	10: 28,351,284 (GRCm39)		probably null	Het
Rbm5	A	T	9: 107,642,796 (GRCm39)	D79E	probably damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rnd3	T	A	2: 51,038,242 (GRCm39)	T78S	possibly damaging	Het
Scart2	G	T	7: 139,878,281 (GRCm39)	G1003*	probably null	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc10a2	C	T	8: 5,155,135 (GRCm39)	D17N	probably benign	Het
Snap23	C	T	2: 120,414,856 (GRCm39)		probably benign	Het
Sptb	T	A	12: 76,644,553 (GRCm39)	T2098S	probably damaging	Het
Src	T	A	2: 157,304,946 (GRCm39)	L165H	probably damaging	Het
Srr	G	T	11: 74,803,898 (GRCm39)	Q20K	probably benign	Het
Stt3b	A	T	9: 115,095,206 (GRCm39)	F275Y	probably damaging	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tmem80	A	G	7: 140,913,692 (GRCm39)		probably benign	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Ttc24	T	A	3: 87,981,946 (GRCm39)	D40V	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp3	T	A	11: 70,662,333 (GRCm39)	S97R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTTCGAGATCACATGTAAGCTAC -3'
(R):5'- GCAGCTGCTGTATAAAAGCTGTC -3'

Sequencing Primer
(F):5'- TGTAAGCTACACACTCCTCAGC -3'
(R):5'- TTCTATGATGACCTGTGATTT -3'

Posted On

2015-05-14