Mutagenetix > Incidental Mutations

Incidental Mutation 'R0432:Ccdc162'

38842

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

5033413D22Rik

MMRRC Submission

038634-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41541860 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2113 (T2113A)

Ref Sequence

ENSEMBL: ENSMUSP00000140774 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000095227
AA Change: T393A

SMART Domains

Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: T393A

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 benign
Transcript: ENSMUST00000099932
AA Change: T650A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: T650A

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: ENSMUST00000159978

Predicted Effect

probably benign
Transcript: ENSMUST00000179614
AA Change: T840A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: T840A

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 benign
Transcript: ENSMUST00000189488
AA Change: T2113A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: T2113A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219054
AA Change: T840A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 35,895,816	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,736,919	C358S	probably damaging	Het
9330182L06Rik	G	T	5: 9,440,966	G659*	probably null	Het
Abca8b	C	A	11: 109,980,015	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,917,119		probably benign	Het
Ahctf1	A	C	1: 179,784,161	I548R	probably damaging	Het
Alox12b	G	T	11: 69,169,556	G646V	probably damaging	Het
Aoah	C	T	13: 20,911,198		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Atxn1l	A	G	8: 109,731,693	W646R	probably damaging	Het
Cabp2	T	C	19: 4,084,903	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,687,704	T719I	probably damaging	Het
Camk1d	A	T	2: 5,445,135	H70Q	probably damaging	Het
Car1	T	C	3: 14,770,176	T170A	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273	C18*	probably null	Het
Cdk17	A	T	10: 93,237,790		probably benign	Het
Chd9	T	A	8: 90,994,450		probably benign	Het
Chrm5	T	A	2: 112,479,655	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,909,419	T423A	probably benign	Het
Col11a1	A	G	3: 114,205,901		probably benign	Het
Col27a1	T	C	4: 63,225,611	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,484,935	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,857,950	K180*	probably null	Het
Dmxl2	T	C	9: 54,416,951	R876G	probably benign	Het
Dnmbp	A	T	19: 43,854,857	Y432*	probably null	Het
Eml2	C	T	7: 19,179,531	Q125*	probably null	Het
Faap100	A	C	11: 120,373,876		probably benign	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gda	A	G	19: 21,417,107	Y129H	probably damaging	Het
Gga3	G	A	11: 115,590,524	R207C	probably damaging	Het
Glg1	T	C	8: 111,182,569	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10322	A	T	10: 59,616,208	H49L	possibly damaging	Het
Golga5	G	T	12: 102,476,208	V269F	possibly damaging	Het
Gramd3	G	A	18: 56,474,069	C85Y	probably benign	Het
Grhl1	C	T	12: 24,582,919	P153L	probably benign	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,425,332	I414V	probably damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Itsn1	T	A	16: 91,815,520	Y266N	probably damaging	Het
Lipe	G	A	7: 25,398,488	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,257,067	E631G	probably damaging	Het
Lvrn	T	A	18: 46,905,299	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,135,597	H250Q	probably damaging	Het
Mup3	T	C	4: 62,085,282	T117A	probably benign	Het
Myo6	A	C	9: 80,273,974		probably benign	Het
Nbn	T	A	4: 15,983,951		probably benign	Het
Ncapg	T	A	5: 45,672,428	N157K	probably damaging	Het
Olfr1024	T	A	2: 85,904,157	N299I	probably damaging	Het
Olfr1137	G	A	2: 87,711,430	H159Y	probably benign	Het
Olfr1154	T	C	2: 87,902,960	T239A	probably damaging	Het
Olfr1178	C	T	2: 88,392,033	T262I	probably damaging	Het
Olfr1434	T	A	19: 12,283,903	M285K	probably damaging	Het
P4ha1	T	A	10: 59,348,257	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,499,535	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,854,400	I379F	probably damaging	Het
Psme3	T	A	11: 101,320,442	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,389,010		probably null	Het
Rabgap1l	A	C	1: 160,722,205	I277R	probably benign	Het
Rapgef1	C	T	2: 29,679,816	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,954,773	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,339,329	C38S	probably damaging	Het
Rptor	C	T	11: 119,780,553	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332	L208S	probably damaging	Het
Slc12a4	T	C	8: 105,959,488	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,653,419	V347F	probably benign	Het
Slit1	G	A	19: 41,743,293	T39I	probably damaging	Het
Sra1	T	C	18: 36,677,503	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,426,429	L215P	probably damaging	Het
Syne2	A	T	12: 75,949,064	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 50,866,823		probably benign	Het
Tgfbi	T	C	13: 56,632,191		probably benign	Het
Tmem232	T	C	17: 65,256,503	M632V	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,512,086	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Tpsab1	A	G	17: 25,343,824		probably benign	Het
Usp34	T	A	11: 23,401,505	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,450,022	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,796,249	Y1052C	probably damaging	Het
Zan	A	T	5: 137,382,316		probably benign	Het
Zfp652	G	A	11: 95,763,739	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,481,836	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,958,122	Y110C	probably benign	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
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
R2571:Ccdc162	UTSW	10	41552397	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GTGAGCTGTAATCCAGAAGATGCCC -3'
(R):5'- GTCAAGTCATCCCCTGGCAAACTC -3'

Sequencing Primer
(F):5'- GAAGATGCCCTTGGGCTTATTTTAAC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-05-23