Mutagenetix > Incidental Mutations

Incidental Mutation 'R2571:Ccdc162'

252557

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

5033413D22Rik

MMRRC Submission

040429-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41552397 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 499 (Q499L)

Ref Sequence

ENSEMBL: ENSMUSP00000097516 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019955
AA Change: Q125L

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

SMART Domains

Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225
AA Change: Q125L

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

unknown
Transcript: ENSMUST00000095227
AA Change: Q312L

SMART Domains

Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: Q312L

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: Q499L

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

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: Q499L

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: ENSMUST00000159868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164074

Predicted Effect

probably damaging
Transcript: ENSMUST00000179614
AA Change: Q689L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: Q689L

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: Q1962L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: Q1962L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219054
AA Change: Q689L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,249,885	N2438S	probably benign	Het
Ago3	G	A	4: 126,363,811	R476W	probably damaging	Het
Akap8	T	C	17: 32,315,455	E339G	probably damaging	Het
Apba2	T	C	7: 64,745,750	V658A	probably damaging	Het
BC049730	A	G	7: 24,713,394	I76V	probably benign	Het
Bcl3	T	C	7: 19,809,527	D338G	probably damaging	Het
Ccdc138	T	C	10: 58,513,222	Y197H	probably benign	Het
Ccser1	G	A	6: 61,422,960	C21Y	probably damaging	Het
Chil6	A	T	3: 106,390,393	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,184,362	R461C	probably damaging	Het
Col19a1	T	A	1: 24,374,631	R407S	unknown	Het
Crlf3	A	T	11: 80,047,513	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dnah10	A	T	5: 124,775,478	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,540,005	V911A	probably benign	Het
Dzip3	T	C	16: 48,972,218		probably null	Het
Evpl	T	C	11: 116,237,969	Q10R	unknown	Het
Glra3	C	T	8: 56,110,481	A337V	probably benign	Het
Gm8909	C	T	17: 36,167,661	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,709,023	F163S	probably damaging	Het
Hells	T	C	19: 38,959,733	V701A	possibly damaging	Het
Helz	A	G	11: 107,613,952	T422A	probably benign	Het
Hhat	G	A	1: 192,553,022	T442I	probably damaging	Het
Hmces	A	T	6: 87,936,220	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,386,757	T97S	probably damaging	Het
Impad1	C	T	4: 4,778,192		probably null	Het
Kcne2	C	T	16: 92,296,912	T109I	probably damaging	Het
Kcnq1	T	G	7: 143,107,696	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932	S1106P	probably benign	Het
Kel	C	A	6: 41,688,067	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,501,887	F1483I	probably benign	Het
Krt4	T	A	15: 101,921,257	N279Y	probably damaging	Het
Lama4	T	A	10: 39,042,675	M384K	possibly damaging	Het
Lepr	C	T	4: 101,768,172	T508I	possibly damaging	Het
Map1lc3b	T	A	8: 121,593,474		probably null	Het
Me1	T	C	9: 86,654,698	H108R	probably damaging	Het
Mindy4	T	C	6: 55,284,785	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,402,939	S826P	probably damaging	Het
Olfr702	T	A	7: 106,823,726	M267L	probably benign	Het
Osbpl7	T	C	11: 97,054,841	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,756,868	E310K	probably damaging	Het
Pcif1	A	G	2: 164,884,211	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,545,382	T63I	probably benign	Het
Prickle2	T	C	6: 92,705,400	Q25R	probably benign	Het
Ptk2	A	G	15: 73,231,919	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135	F333S	probably benign	Het
Rag2	T	A	2: 101,629,967	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,860,612		probably null	Het
Rps6ka4	G	T	19: 6,838,103	H174Q	probably damaging	Het
Rreb1	C	A	13: 37,899,637	T92K	probably damaging	Het
Ryr1	A	T	7: 29,009,562	M4793K	unknown	Het
Ryr1	T	A	7: 29,036,126	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,439,331	S891A	probably benign	Het
Sgsh	A	G	11: 119,350,514	Y132H	probably damaging	Het
Sos2	T	A	12: 69,635,718	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,036,384	R580L	probably damaging	Het
Spata9	C	A	13: 75,967,761		probably benign	Het
Tead2	T	A	7: 45,225,770	V202E	probably damaging	Het
Thada	T	C	17: 84,454,640	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718	I256T	probably damaging	Het
Tra2a	G	T	6: 49,252,487		probably benign	Het
Trim30a	T	A	7: 104,429,326	N181I	possibly damaging	Het
Ttc13	A	C	8: 124,683,799	Y372D	probably damaging	Het
Vit	T	C	17: 78,586,745	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,415,556	T41A	probably benign	Het
Vps13d	C	A	4: 145,149,136	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,450,926	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,356,444	L376P	probably damaging	Het
Zfp619	T	C	7: 39,537,171	L875P	probably damaging	Het
Zic5	T	A	14: 122,459,478	Q575L	unknown	Het

Other mutations in Ccdc162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Ccdc162	APN	10	41581339	missense	probably benign	0.01
IGL01366:Ccdc162	APN	10	41580306	missense	possibly damaging	0.49
IGL01924:Ccdc162	APN	10	41569887	missense	probably damaging	1.00
IGL02504:Ccdc162	APN	10	41552388	missense	probably damaging	1.00
IGL02678:Ccdc162	APN	10	41561155	missense	probably damaging	0.99
IGL02955:Ccdc162	APN	10	41561127	missense	probably damaging	1.00
beeswax	UTSW	10	41561226	missense	possibly damaging	0.57
honeycomb	UTSW	10	41644641	missense	probably benign	0.35
FR4304:Ccdc162	UTSW	10	41556121	missense	possibly damaging	0.49
R0432:Ccdc162	UTSW	10	41541860	missense	probably benign	0.01
R0585:Ccdc162	UTSW	10	41586379	missense	probably benign	0.03
R0645:Ccdc162	UTSW	10	41586411	splice site	probably benign
R0731:Ccdc162	UTSW	10	41579143	missense	probably damaging	1.00
R1426:Ccdc162	UTSW	10	41553182	missense	possibly damaging	0.89
R1447:Ccdc162	UTSW	10	41580247	missense	probably damaging	1.00
R1712:Ccdc162	UTSW	10	41539431	missense	probably benign	0.35
R2138:Ccdc162	UTSW	10	41581297	missense	probably benign	0.15
R2351:Ccdc162	UTSW	10	41555972	critical splice donor site	probably null
R2394:Ccdc162	UTSW	10	41569898	missense	probably damaging	1.00
R2431:Ccdc162	UTSW	10	41569845	missense	probably benign
R2873:Ccdc162	UTSW	10	41655099	missense	possibly damaging	0.68
R2926:Ccdc162	UTSW	10	41561207	start gained	probably benign
R2999:Ccdc162	UTSW	10	41580290	missense	probably benign	0.00
R3412:Ccdc162	UTSW	10	41539549	splice site	probably benign
R3712:Ccdc162	UTSW	10	41587379	missense	probably benign
R3736:Ccdc162	UTSW	10	41589568	intron	probably null
R4112:Ccdc162	UTSW	10	41656328	missense	possibly damaging	0.77
R4557:Ccdc162	UTSW	10	41587388	missense	probably benign	0.01
R4580:Ccdc162	UTSW	10	41561140	missense	probably benign	0.02
R4685:Ccdc162	UTSW	10	41681686	missense	possibly damaging	0.89
R4837:Ccdc162	UTSW	10	41673867	missense	probably benign	0.00
R5155:Ccdc162	UTSW	10	41553580	splice site	probably null
R5155:Ccdc162	UTSW	10	41579151	missense	probably damaging	1.00
R5645:Ccdc162	UTSW	10	41552356	missense	probably benign	0.06
R5656:Ccdc162	UTSW	10	41569934	missense	probably benign	0.26
R5682:Ccdc162	UTSW	10	41556803	nonsense	probably null
R5808:Ccdc162	UTSW	10	41655504	missense	possibly damaging	0.62
R5909:Ccdc162	UTSW	10	41561115	missense	probably damaging	1.00
R6000:Ccdc162	UTSW	10	41561163	missense	possibly damaging	0.75
R6057:Ccdc162	UTSW	10	41634041	missense	possibly damaging	0.72
R6211:Ccdc162	UTSW	10	41630145	nonsense	probably null
R6264:Ccdc162	UTSW	10	41694468	missense	probably benign	0.31
R6329:Ccdc162	UTSW	10	41663151	missense	possibly damaging	0.76
R6349:Ccdc162	UTSW	10	41694400	missense	probably damaging	0.97
R6398:Ccdc162	UTSW	10	41627149	missense	probably damaging	1.00
R6453:Ccdc162	UTSW	10	41550825	missense	probably damaging	1.00
R6602:Ccdc162	UTSW	10	41615980	missense	probably benign	0.00
R6627:Ccdc162	UTSW	10	41663185	missense	probably damaging	1.00
R6722:Ccdc162	UTSW	10	41644641	missense	probably benign	0.35
R6750:Ccdc162	UTSW	10	41561226	missense	possibly damaging	0.57
R6968:Ccdc162	UTSW	10	41673844	missense	possibly damaging	0.55
R6970:Ccdc162	UTSW	10	41615958	missense	probably benign	0.03
R6989:Ccdc162	UTSW	10	41581353	missense	probably damaging	0.99
R7008:Ccdc162	UTSW	10	41552415	missense	probably damaging	1.00
R7135:Ccdc162	UTSW	10	41673859	missense	probably benign	0.00
R7139:Ccdc162	UTSW	10	41666721	missense	possibly damaging	0.49
R7224:Ccdc162	UTSW	10	41561191	missense	probably damaging	1.00
R7230:Ccdc162	UTSW	10	41678813	missense	probably damaging	1.00
R7256:Ccdc162	UTSW	10	41556001	missense	probably damaging	0.99
R7261:Ccdc162	UTSW	10	41561140	missense	probably benign	0.02
R7390:Ccdc162	UTSW	10	41634048	missense	probably benign
R7712:Ccdc162	UTSW	10	41627227	missense	possibly damaging	0.56
R7726:Ccdc162	UTSW	10	41553075	missense	probably benign	0.00
R7754:Ccdc162	UTSW	10	41587375	missense	probably damaging	1.00
R7764:Ccdc162	UTSW	10	41690113	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTGGCATTCTATAGAAGCTCTGG -3'
(R):5'- CTGATCTGCCAGGCTATCCATAG -3'

Sequencing Primer
(F):5'- ATAGAAGCTCTGGTAACTCTGCC -3'
(R):5'- AAGAGCTCCACCCTGTAGG -3'

Posted On

2014-12-04