Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Ccdc162'

544843

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

5033413D22Rik

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41552415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 119 (E119V)

Ref Sequence

ENSEMBL: ENSMUSP00000019955 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019955
AA Change: E119V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225
AA Change: E119V

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

SMART Domains

Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: E306V

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 damaging
Transcript: ENSMUST00000099932
AA Change: E493V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: E493V

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 damaging
Transcript: ENSMUST00000179614
AA Change: E683V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: E683V

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 damaging
Transcript: ENSMUST00000189488
AA Change: E1956V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: E1956V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219054
AA Change: E683V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,260,096 (GRCm38)	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,729,218 (GRCm38)	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,290,979 (GRCm38)	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,933,299 (GRCm38)	R232L	probably benign	Het
Best2	T	A	8: 85,013,211 (GRCm38)	I76F	possibly damaging	Het
Card11	G	C	5: 140,873,393 (GRCm38)	R1133G	probably damaging	Het
Card9	T	C	2: 26,357,799 (GRCm38)	D180G	possibly damaging	Het
Cd2bp2	T	C	7: 127,195,395 (GRCm38)	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,717,621 (GRCm38)	M120R	probably damaging	Het
Cryba4	T	A	5: 112,251,782 (GRCm38)	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,193,325 (GRCm38)	M26K	probably benign	Het
Dgcr2	A	G	16: 17,845,001 (GRCm38)	S157P	probably damaging	Het
Dis3l	A	G	9: 64,310,453 (GRCm38)	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,361,274 (GRCm38)	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291 (GRCm38)		probably null	Het
Gm8251	T	C	1: 44,059,625 (GRCm38)	D771G	probably benign	Het
Hist1h1e	T	C	13: 23,622,209 (GRCm38)	K97E	probably damaging	Het
Igf2bp2	A	T	16: 22,081,832 (GRCm38)	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771 (GRCm38)		probably null	Het
Klhl5	T	C	5: 65,143,249 (GRCm38)	S52P	probably benign	Het
Lrrc28	A	T	7: 67,595,711 (GRCm38)		probably benign	Het
Map4k4	T	G	1: 39,988,971 (GRCm38)	D317E	probably benign	Het
Maz	A	T	7: 127,024,612 (GRCm38)	C66S	probably damaging	Het
Mbd4	T	C	6: 115,850,724 (GRCm38)	T43A	possibly damaging	Het
Milr1	T	A	11: 106,751,314 (GRCm38)	S11T	probably damaging	Het
Mthfd2l	T	A	5: 90,959,728 (GRCm38)	C150S	probably damaging	Het
Nemf	C	T	12: 69,353,793 (GRCm38)		probably null	Het
Nemf	A	T	12: 69,341,621 (GRCm38)	N325K	possibly damaging	Het
Nod2	T	A	8: 88,663,657 (GRCm38)	C197*	probably null	Het
Odf2l	A	G	3: 145,132,734 (GRCm38)	K241E	probably damaging	Het
Olfr1427	G	A	19: 12,098,850 (GRCm38)	T263I	possibly damaging	Het
Olfr1489	A	T	19: 13,633,621 (GRCm38)	N170I	probably damaging	Het
Osbpl10	T	G	9: 115,061,848 (GRCm38)	D101E	probably damaging	Het
Osgin1	T	C	8: 119,441,494 (GRCm38)	V20A	possibly damaging	Het
Pan3	T	A	5: 147,545,693 (GRCm38)	C438S	probably damaging	Het
Plaa	A	G	4: 94,569,349 (GRCm38)	*795Q	probably null	Het
Prss35	T	C	9: 86,756,308 (GRCm38)	V377A	probably benign	Het
Rab5c	G	A	11: 100,719,963 (GRCm38)	R40C	probably damaging	Het
Rasl12	G	A	9: 65,410,869 (GRCm38)	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,790,906 (GRCm38)	H276R	probably benign	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Sez6l	T	C	5: 112,464,695 (GRCm38)	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,363,112 (GRCm38)	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,409,324 (GRCm38)	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,286,922 (GRCm38)	T712A	probably benign	Het
Sntb1	A	T	15: 55,792,072 (GRCm38)	Y249*	probably null	Het
Spatc1	A	G	15: 76,283,723 (GRCm38)	I127M	probably benign	Het
Synj1	A	T	16: 90,993,945 (GRCm38)	N109K	probably damaging	Het
Tdg	T	A	10: 82,648,641 (GRCm38)	M396K	possibly damaging	Het
Tmem173	C	A	18: 35,735,171 (GRCm38)	R292L	probably damaging	Het
Tmem252	T	C	19: 24,674,292 (GRCm38)	V75A	probably damaging	Het
Trim40	T	C	17: 36,883,976 (GRCm38)	Q142R	probably damaging	Het
Trip6	T	C	5: 137,312,966 (GRCm38)	T163A	probably damaging	Het
Ttn	T	C	2: 76,894,642 (GRCm38)		probably benign	Het
Wdr95	T	C	5: 149,611,540 (GRCm38)	L721P	probably benign	Het
Zfp385c	A	T	11: 100,630,687 (GRCm38)	D182E	probably damaging	Het
Zfp597	A	G	16: 3,865,767 (GRCm38)	F375S	probably benign	Het
Zfp658	T	G	7: 43,573,912 (GRCm38)	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,561,772 (GRCm38)	F216L	probably benign	Het

Other mutations in Ccdc162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Ccdc162	APN	10	41,581,339 (GRCm38)	missense	probably benign	0.01
IGL01366:Ccdc162	APN	10	41,580,306 (GRCm38)	missense	possibly damaging	0.49
IGL01924:Ccdc162	APN	10	41,569,887 (GRCm38)	missense	probably damaging	1.00
IGL02504:Ccdc162	APN	10	41,552,388 (GRCm38)	missense	probably damaging	1.00
IGL02678:Ccdc162	APN	10	41,561,155 (GRCm38)	missense	probably damaging	0.99
IGL02955:Ccdc162	APN	10	41,561,127 (GRCm38)	missense	probably damaging	1.00
beeswax	UTSW	10	41,561,226 (GRCm38)	missense	possibly damaging	0.57
honeycomb	UTSW	10	41,644,641 (GRCm38)	missense	probably benign	0.35
FR4304:Ccdc162	UTSW	10	41,556,121 (GRCm38)	missense	possibly damaging	0.49
R0432:Ccdc162	UTSW	10	41,541,860 (GRCm38)	missense	probably benign	0.01
R0585:Ccdc162	UTSW	10	41,586,379 (GRCm38)	missense	probably benign	0.03
R0645:Ccdc162	UTSW	10	41,586,411 (GRCm38)	splice site	probably benign
R0731:Ccdc162	UTSW	10	41,579,143 (GRCm38)	missense	probably damaging	1.00
R1426:Ccdc162	UTSW	10	41,553,182 (GRCm38)	missense	possibly damaging	0.89
R1447:Ccdc162	UTSW	10	41,580,247 (GRCm38)	missense	probably damaging	1.00
R1712:Ccdc162	UTSW	10	41,539,431 (GRCm38)	missense	probably benign	0.35
R2138:Ccdc162	UTSW	10	41,581,297 (GRCm38)	missense	probably benign	0.15
R2351:Ccdc162	UTSW	10	41,555,972 (GRCm38)	critical splice donor site	probably null
R2394:Ccdc162	UTSW	10	41,569,898 (GRCm38)	missense	probably damaging	1.00
R2431:Ccdc162	UTSW	10	41,569,845 (GRCm38)	missense	probably benign
R2571:Ccdc162	UTSW	10	41,552,397 (GRCm38)	missense	probably damaging	1.00
R2873:Ccdc162	UTSW	10	41,655,099 (GRCm38)	missense	possibly damaging	0.68
R2926:Ccdc162	UTSW	10	41,561,207 (GRCm38)	start gained	probably benign
R2999:Ccdc162	UTSW	10	41,580,290 (GRCm38)	missense	probably benign	0.00
R3412:Ccdc162	UTSW	10	41,539,549 (GRCm38)	splice site	probably benign
R3712:Ccdc162	UTSW	10	41,587,379 (GRCm38)	missense	probably benign
R3736:Ccdc162	UTSW	10	41,589,568 (GRCm38)	splice site	probably null
R4112:Ccdc162	UTSW	10	41,656,328 (GRCm38)	missense	possibly damaging	0.77
R4557:Ccdc162	UTSW	10	41,587,388 (GRCm38)	missense	probably benign	0.01
R4580:Ccdc162	UTSW	10	41,561,140 (GRCm38)	missense	probably benign	0.02
R4685:Ccdc162	UTSW	10	41,681,686 (GRCm38)	missense	possibly damaging	0.89
R4837:Ccdc162	UTSW	10	41,673,867 (GRCm38)	missense	probably benign	0.00
R5155:Ccdc162	UTSW	10	41,579,151 (GRCm38)	missense	probably damaging	1.00
R5155:Ccdc162	UTSW	10	41,553,580 (GRCm38)	splice site	probably null
R5645:Ccdc162	UTSW	10	41,552,356 (GRCm38)	missense	probably benign	0.06
R5656:Ccdc162	UTSW	10	41,569,934 (GRCm38)	missense	probably benign	0.26
R5682:Ccdc162	UTSW	10	41,556,803 (GRCm38)	nonsense	probably null
R5808:Ccdc162	UTSW	10	41,655,504 (GRCm38)	missense	possibly damaging	0.62
R5909:Ccdc162	UTSW	10	41,561,115 (GRCm38)	missense	probably damaging	1.00
R6000:Ccdc162	UTSW	10	41,561,163 (GRCm38)	missense	possibly damaging	0.75
R6057:Ccdc162	UTSW	10	41,634,041 (GRCm38)	missense	possibly damaging	0.72
R6211:Ccdc162	UTSW	10	41,630,145 (GRCm38)	nonsense	probably null
R6264:Ccdc162	UTSW	10	41,694,468 (GRCm38)	missense	probably benign	0.31
R6329:Ccdc162	UTSW	10	41,663,151 (GRCm38)	missense	possibly damaging	0.76
R6349:Ccdc162	UTSW	10	41,694,400 (GRCm38)	missense	probably damaging	0.97
R6398:Ccdc162	UTSW	10	41,627,149 (GRCm38)	missense	probably damaging	1.00
R6453:Ccdc162	UTSW	10	41,550,825 (GRCm38)	missense	probably damaging	1.00
R6602:Ccdc162	UTSW	10	41,615,980 (GRCm38)	missense	probably benign	0.00
R6627:Ccdc162	UTSW	10	41,663,185 (GRCm38)	missense	probably damaging	1.00
R6722:Ccdc162	UTSW	10	41,644,641 (GRCm38)	missense	probably benign	0.35
R6750:Ccdc162	UTSW	10	41,561,226 (GRCm38)	missense	possibly damaging	0.57
R6968:Ccdc162	UTSW	10	41,673,844 (GRCm38)	missense	possibly damaging	0.55
R6970:Ccdc162	UTSW	10	41,615,958 (GRCm38)	missense	probably benign	0.03
R6989:Ccdc162	UTSW	10	41,581,353 (GRCm38)	missense	probably damaging	0.99
R7135:Ccdc162	UTSW	10	41,673,859 (GRCm38)	missense	probably benign	0.00
R7139:Ccdc162	UTSW	10	41,666,721 (GRCm38)	missense	possibly damaging	0.49
R7224:Ccdc162	UTSW	10	41,561,191 (GRCm38)	missense	probably damaging	1.00
R7230:Ccdc162	UTSW	10	41,678,813 (GRCm38)	missense	probably damaging	1.00
R7256:Ccdc162	UTSW	10	41,556,001 (GRCm38)	missense	probably damaging	0.99
R7261:Ccdc162	UTSW	10	41,561,140 (GRCm38)	missense	probably benign	0.02
R7390:Ccdc162	UTSW	10	41,634,048 (GRCm38)	missense	probably benign
R7712:Ccdc162	UTSW	10	41,627,227 (GRCm38)	missense	possibly damaging	0.56
R7726:Ccdc162	UTSW	10	41,553,075 (GRCm38)	missense	probably benign	0.00
R7754:Ccdc162	UTSW	10	41,587,375 (GRCm38)	missense	probably damaging	1.00
R7764:Ccdc162	UTSW	10	41,690,113 (GRCm38)	missense	possibly damaging	0.95
R8053:Ccdc162	UTSW	10	41,644,581 (GRCm38)	missense	probably benign
R8088:Ccdc162	UTSW	10	41,623,414 (GRCm38)	missense	possibly damaging	0.68
R8094:Ccdc162	UTSW	10	41,612,868 (GRCm38)	missense	probably benign	0.02
R8097:Ccdc162	UTSW	10	41,634,119 (GRCm38)	missense	probably benign	0.03
R8321:Ccdc162	UTSW	10	41,634,033 (GRCm38)	missense	probably damaging	0.98
R8377:Ccdc162	UTSW	10	41,581,310 (GRCm38)	missense	probably benign	0.08
R8399:Ccdc162	UTSW	10	41,539,521 (GRCm38)	missense	probably damaging	1.00
R8669:Ccdc162	UTSW	10	41,552,356 (GRCm38)	missense	probably benign	0.06
R8772:Ccdc162	UTSW	10	41,630,037 (GRCm38)	missense	probably damaging	0.99
R8810:Ccdc162	UTSW	10	41,666,741 (GRCm38)	missense	probably benign	0.41
R8903:Ccdc162	UTSW	10	41,655,444 (GRCm38)	critical splice donor site	probably null
R8928:Ccdc162	UTSW	10	41,586,249 (GRCm38)	splice site	probably benign
R8950:Ccdc162	UTSW	10	41,598,511 (GRCm38)	missense	probably benign	0.00
R8960:Ccdc162	UTSW	10	41,553,182 (GRCm38)	missense	probably damaging	0.96
R8985:Ccdc162	UTSW	10	41,556,106 (GRCm38)	missense	probably damaging	1.00
R9071:Ccdc162	UTSW	10	41,581,178 (GRCm38)	nonsense	probably null
R9254:Ccdc162	UTSW	10	41,612,948 (GRCm38)	critical splice acceptor site	probably null
R9297:Ccdc162	UTSW	10	41,630,114 (GRCm38)	missense	probably benign
R9318:Ccdc162	UTSW	10	41,630,114 (GRCm38)	missense	probably benign
R9518:Ccdc162	UTSW	10	41,589,576 (GRCm38)	missense	probably damaging	1.00
R9525:Ccdc162	UTSW	10	41,683,226 (GRCm38)	missense	probably damaging	0.99
R9539:Ccdc162	UTSW	10	41,587,411 (GRCm38)	missense	possibly damaging	0.54
R9638:Ccdc162	UTSW	10	41,561,163 (GRCm38)	missense	probably benign	0.01
Z1176:Ccdc162	UTSW	10	41,654,997 (GRCm38)	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41,605,108 (GRCm38)	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41,553,131 (GRCm38)	missense	probably benign	0.00
Z1176:Ccdc162	UTSW	10	41,690,092 (GRCm38)	missense	probably benign	0.00
Z1177:Ccdc162	UTSW	10	41,683,195 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTATAGAAGCTCTGGTAACTCTGC -3'
(R):5'- ATTCACTCTGATCTGCCAGGC -3'

Sequencing Primer
(F):5'- AAGCTCTGGTAACTCTGCCACTG -3'
(R):5'- GATCTGCCAGGCTATCCATAG -3'

Posted On

2019-05-13