Mutagenetix > Incidental Mutation

Incidental Mutation 'R4828:Ccdc190'

372542

Institutional Source

Beutler Lab

Gene Symbol

Ccdc190

Ensembl Gene

ENSMUSG00000070532

Gene Name

coiled-coil domain containing 190

Synonyms

1700084C01Rik

MMRRC Submission

042444-MU

Accession Numbers

Essential gene?

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

Stock #

R4828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169928648-169934653 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169933896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000135819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]

AlphaFold

Q3URK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094348
AA Change: D188G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: D188G

Domain	Start	End	E-Value	Type
coiled coil region	40	69	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159701

Predicted Effect

probably damaging
Transcript: ENSMUST00000175731
AA Change: D189G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:DUF4697	8	275	1.4e-130	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (106/108)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,216,247 (GRCm38)	R239S	probably damaging	Het
Adat3	T	C	10: 80,607,047 (GRCm38)	S240P	probably benign	Het
Agbl5	G	A	5: 30,890,715 (GRCm38)	R111H	probably damaging	Het
Alg2	A	G	4: 47,471,563 (GRCm38)	V415A	probably benign	Het
Alpk2	T	C	18: 65,349,113 (GRCm38)	E141G	probably benign	Het
Ampd1	A	C	3: 103,081,097 (GRCm38)	T115P	probably damaging	Het
Ankrd12	A	G	17: 65,984,637 (GRCm38)	L1267P	probably damaging	Het
Arfgef3	A	T	10: 18,652,693 (GRCm38)	S315R	probably damaging	Het
Atp10d	A	C	5: 72,239,118 (GRCm38)	D222A	probably benign	Het
B9d1	A	G	11: 61,507,635 (GRCm38)	E47G	probably damaging	Het
Bag2	T	C	1: 33,746,887 (GRCm38)	D118G	probably damaging	Het
Bnip3l	G	T	14: 67,008,759 (GRCm38)	P9Q	probably damaging	Het
Casp8ap2	A	G	4: 32,639,807 (GRCm38)	N287S	probably benign	Het
Ccdc88a	A	G	11: 29,463,210 (GRCm38)	K583E	probably damaging	Het
Cd84	A	T	1: 171,872,748 (GRCm38)	N144I	probably damaging	Het
Chrnd	A	G	1: 87,191,571 (GRCm38)		probably benign	Het
Clca3b	G	T	3: 144,844,512 (GRCm38)	T224K	probably benign	Het
Crcp	A	G	5: 130,059,762 (GRCm38)	T119A	probably damaging	Het
Cul2	T	C	18: 3,431,013 (GRCm38)	Y596H	probably damaging	Het
Dip2c	T	A	13: 9,560,679 (GRCm38)	W356R	probably damaging	Het
Dlc1	T	A	8: 36,850,246 (GRCm38)	Q425L	possibly damaging	Het
Dnah7b	T	A	1: 46,128,112 (GRCm38)	V588D	possibly damaging	Het
Dock4	G	T	12: 40,668,437 (GRCm38)	G245W	probably damaging	Het
Dpf3	A	G	12: 83,294,499 (GRCm38)	I160T	possibly damaging	Het
Dstyk	A	G	1: 132,434,137 (GRCm38)	T102A	probably benign	Het
Eif3d	A	T	15: 77,960,029 (GRCm38)	L425*	probably null	Het
Elac2	A	G	11: 64,995,327 (GRCm38)	E477G	probably damaging	Het
Ephb3	G	A	16: 21,214,995 (GRCm38)	R23H	possibly damaging	Het
Exd1	C	T	2: 119,520,326 (GRCm38)	A485T	probably benign	Het
Ext2	G	A	2: 93,795,767 (GRCm38)	T316I	probably benign	Het
Fbf1	A	G	11: 116,148,951 (GRCm38)	V694A	probably benign	Het
Fgg	G	A	3: 83,008,370 (GRCm38)		probably benign	Het
Flnb	G	A	14: 7,919,238 (GRCm38)	V1664I	probably benign	Het
Flnc	G	A	6: 29,455,167 (GRCm38)	D1932N	probably damaging	Het
Gm1818	A	T	12: 48,555,626 (GRCm38)		noncoding transcript	Het
Gnai1	G	A	5: 18,291,472 (GRCm38)	S151L	probably damaging	Het
Golph3l	G	A	3: 95,591,748 (GRCm38)	R67H	possibly damaging	Het
Grk5	T	A	19: 60,987,775 (GRCm38)	C42*	probably null	Het
Herc1	G	A	9: 66,497,343 (GRCm38)		probably null	Het
Hey2	A	T	10: 30,834,183 (GRCm38)	H191Q	possibly damaging	Het
Il11	A	G	7: 4,776,482 (GRCm38)	V8A	probably benign	Het
Il23r	G	A	6: 67,431,651 (GRCm38)	P402L	probably benign	Het
Irf5	A	G	6: 29,531,141 (GRCm38)	N2S	probably damaging	Het
Lamb1	T	C	12: 31,298,930 (GRCm38)	Y606H	probably benign	Het
Larp4b	C	T	13: 9,170,898 (GRCm38)	R650C	probably damaging	Het
Lrpap1	T	C	5: 35,102,421 (GRCm38)	E111G	possibly damaging	Het
Lrrc36	T	A	8: 105,455,230 (GRCm38)	S388T	probably benign	Het
Med27	T	C	2: 29,377,938 (GRCm38)		probably benign	Het
Mrc1	T	G	2: 14,270,206 (GRCm38)	D439E	probably damaging	Het
Notch4	A	T	17: 34,570,060 (GRCm38)	E444D	probably damaging	Het
Nrm	G	A	17: 35,864,190 (GRCm38)	V137I	possibly damaging	Het
Nxpe5	T	A	5: 138,230,533 (GRCm38)	L4Q	possibly damaging	Het
Obscn	A	G	11: 59,086,670 (GRCm38)	V2052A	possibly damaging	Het
Oc90	A	T	15: 65,881,559 (GRCm38)	Y304N	probably damaging	Het
Olfr1046	T	A	2: 86,217,533 (GRCm38)	H59L	possibly damaging	Het
Olfr275	T	C	4: 52,826,138 (GRCm38)	V247A	probably damaging	Het
Olfr491	T	C	7: 108,317,470 (GRCm38)	V192A	probably benign	Het
Olfr653	T	A	7: 104,579,973 (GRCm38)	F109Y	possibly damaging	Het
Olfr888	T	C	9: 38,108,740 (GRCm38)	I13T	probably damaging	Het
Parp10	A	T	15: 76,243,081 (GRCm38)	I52N	probably benign	Het
Pdgfrb	C	A	18: 61,073,243 (GRCm38)	R608S	probably damaging	Het
Pecam1	A	G	11: 106,699,808 (GRCm38)	C47R	probably damaging	Het
Pirb	C	T	7: 3,717,603 (GRCm38)	G299S	probably benign	Het
Pkhd1l1	A	G	15: 44,529,405 (GRCm38)	E1712G	possibly damaging	Het
Plce1	T	C	19: 38,769,499 (GRCm38)	I1958T	probably damaging	Het
Plch2	C	T	4: 154,984,635 (GRCm38)	R1073Q	probably benign	Het
Pld5	A	C	1: 176,274,867 (GRCm38)	I3S	probably benign	Het
Polr1a	T	C	6: 71,966,401 (GRCm38)	W1207R	possibly damaging	Het
Polr2m	T	G	9: 71,483,768 (GRCm38)	I51L	possibly damaging	Het
Ppl	G	A	16: 5,104,926 (GRCm38)	R234C	probably damaging	Het
Ppp1r42	C	T	1: 9,999,411 (GRCm38)	R142H	probably benign	Het
Prokr1	A	G	6: 87,581,242 (GRCm38)	V387A	probably benign	Het
Prss23	A	T	7: 89,509,900 (GRCm38)	Y320*	probably null	Het
Ptprk	A	T	10: 28,560,054 (GRCm38)	M804L	probably damaging	Het
Rdh16f2	A	G	10: 127,874,954 (GRCm38)	S147G	probably benign	Het
Rgs7bp	T	C	13: 105,053,024 (GRCm38)	H89R	possibly damaging	Het
Rilpl2	G	T	5: 124,469,812 (GRCm38)	T115K	possibly damaging	Het
Rnf212	G	A	5: 108,729,468 (GRCm38)	S153F	probably damaging	Het
Rnf213	A	G	11: 119,416,629 (GRCm38)	D705G	possibly damaging	Het
Selenbp2	A	G	3: 94,704,119 (GRCm38)	N379S	probably benign	Het
Sema3e	G	A	5: 14,226,640 (GRCm38)	V312M	probably damaging	Het
Sh2d5	T	A	4: 138,258,255 (GRCm38)	L338Q	probably damaging	Het
Shank3	A	G	15: 89,500,199 (GRCm38)		probably benign	Het
Skor2	G	T	18: 76,860,418 (GRCm38)	G612C	probably damaging	Het
Slc22a16	A	G	10: 40,573,640 (GRCm38)	Y24C	probably damaging	Het
Slc4a1ap	T	A	5: 31,530,709 (GRCm38)	Y312*	probably null	Het
Slc5a7	A	T	17: 54,276,799 (GRCm38)	F488I	probably benign	Het
Snrnp200	A	G	2: 127,211,607 (GRCm38)	D130G	probably damaging	Het
Sorbs2	T	A	8: 45,741,615 (GRCm38)		probably benign	Het
Tmem91	T	G	7: 25,669,378 (GRCm38)	T161P	probably damaging	Het
Tpd52l1	G	A	10: 31,346,701 (GRCm38)	T99M	probably damaging	Het
Trps1	A	G	15: 50,660,677 (GRCm38)	*1036Q	probably null	Het
Tshr	A	T	12: 91,537,790 (GRCm38)	T501S	probably damaging	Het
Tubgcp3	T	C	8: 12,671,987 (GRCm38)	N15S	probably benign	Het
Unc5b	A	G	10: 60,772,348 (GRCm38)	S669P	possibly damaging	Het
Zfp970	A	G	2: 177,475,353 (GRCm38)	E240G	probably damaging	Het

Other mutations in Ccdc190

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Ccdc190	APN	1	169,933,740 (GRCm38)	missense	probably benign	0.12
IGL01696:Ccdc190	APN	1	169,933,824 (GRCm38)	missense	probably damaging	0.98
IGL02108:Ccdc190	APN	1	169,933,986 (GRCm38)	missense	probably damaging	0.99
IGL03239:Ccdc190	APN	1	169,933,980 (GRCm38)	missense	probably benign	0.00
IGL03338:Ccdc190	APN	1	169,929,975 (GRCm38)	start codon destroyed	probably null	0.53
R1341:Ccdc190	UTSW	1	169,930,017 (GRCm38)	missense	probably damaging	0.99
R4892:Ccdc190	UTSW	1	169,930,109 (GRCm38)	missense	possibly damaging	0.95
R5023:Ccdc190	UTSW	1	169,933,087 (GRCm38)	missense	probably damaging	0.97
R5158:Ccdc190	UTSW	1	169,933,009 (GRCm38)	missense	probably benign
R6505:Ccdc190	UTSW	1	169,933,023 (GRCm38)	nonsense	probably null
R9461:Ccdc190	UTSW	1	169,933,920 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTGCCCTCTTTACATGACC -3'
(R):5'- TCTTGGCCTTTTCGAACAGC -3'

Sequencing Primer
(F):5'- TTACATGACCCTGTCCTCAAAG -3'
(R):5'- CCTTTTCGAACAGCTCTAGGAAGG -3'

Posted On

2016-03-01