Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Ccdc142'

236774

Institutional Source

Beutler Lab

Gene Symbol

Ccdc142

Ensembl Gene

ENSMUSG00000107499

Gene Name

coiled-coil domain containing 142

Synonyms

MMRRC Submission

040210-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83101601-83108394 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 83107960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101253] [ENSMUST00000101254] [ENSMUST00000113938]

AlphaFold

Q8CAI1

Predicted Effect

probably benign
Transcript: ENSMUST00000101253

SMART Domains

Protein: ENSMUSP00000098811
Gene: ENSMUSG00000079511

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	70	91	N/A	INTRINSIC
low complexity region	102	118	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	238	263	N/A	INTRINSIC
Pfam:CCDC142	286	714	1.6e-159	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101254

SMART Domains

Protein: ENSMUSP00000098812
Gene: ENSMUSG00000107499

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	70	91	N/A	INTRINSIC
low complexity region	102	118	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	238	263	N/A	INTRINSIC
Pfam:CCDC142	279	714	8.5e-174	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113938

SMART Domains

Protein: ENSMUSP00000109571
Gene: ENSMUSG00000030037

Domain	Start	End	E-Value	Type
Pfam:MRP_L53	20	71	2.7e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203533

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Cyp4x1	G	T	4: 115,126,594	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fitm2	T	A	2: 163,472,684		probably benign	Het
Gm14139	T	A	2: 150,193,145	V462E	probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,023,453	V268I	probably benign	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rfx7	A	G	9: 72,617,964	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Wdr90	A	T	17: 25,860,388	D257E	probably damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	possibly damaging	Het

Other mutations in Ccdc142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4515001:Ccdc142	UTSW	6	83103257	missense	probably benign	0.05
R0636:Ccdc142	UTSW	6	83107198	unclassified	probably benign
R1828:Ccdc142	UTSW	6	83107481	missense	probably damaging	1.00
R1973:Ccdc142	UTSW	6	83102563	missense	probably benign
R2143:Ccdc142	UTSW	6	83102222	missense	probably damaging	1.00
R4329:Ccdc142	UTSW	6	83107016	unclassified	probably benign
R5230:Ccdc142	UTSW	6	83107796	missense	probably damaging	1.00
R5619:Ccdc142	UTSW	6	83103622	missense	probably benign	0.09
R7498:Ccdc142	UTSW	6	83103231	missense	possibly damaging	0.94
R7710:Ccdc142	UTSW	6	83101696	missense	probably benign	0.00
R7759:Ccdc142	UTSW	6	83107931	missense	probably benign	0.04
R8045:Ccdc142	UTSW	6	83103426	missense	probably damaging	1.00
R8217:Ccdc142	UTSW	6	83103216	missense	probably damaging	1.00
R8706:Ccdc142	UTSW	6	83103697	missense	probably damaging	1.00
R8712:Ccdc142	UTSW	6	83102252	missense	probably damaging	1.00
R8974:Ccdc142	UTSW	6	83101982	missense	probably benign	0.00
R9059:Ccdc142	UTSW	6	83102419	missense	probably damaging	0.99
R9608:Ccdc142	UTSW	6	83107101	nonsense	probably null
R9631:Ccdc142	UTSW	6	83107161	missense	probably benign	0.10
R9647:Ccdc142	UTSW	6	83102278	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACCTGGACATCTAGCCTGC -3'
(R):5'- CAAGTTTTCCAGGCTGTTGAGG -3'

Sequencing Primer
(F):5'- TCAAGCAAGACTTCGGAGTGGTC -3'
(R):5'- GGCTGTTGAGGCTGCTG -3'

Posted On

2014-10-02