Mutagenetix > Incidental Mutations

Incidental Mutation 'R5874:Ccdc130'

455391

Institutional Source

Beutler Lab

Gene Symbol

Ccdc130

Ensembl Gene

ENSMUSG00000004994

Gene Name

coiled-coil domain containing 130

Synonyms

MMRRC Submission

044081-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R5874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84257795-84270380 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84258548 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 364 (D364V)

Ref Sequence

ENSEMBL: ENSMUSP00000096177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000172320]

Predicted Effect

probably benign
Transcript: ENSMUST00000005120

SMART Domains

Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	198	1.7e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000005122

SMART Domains

Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	40	152	9.8e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098578
AA Change: D364V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: D364V

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	384	1.4e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125498

SMART Domains

Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	2	226	5.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126435

SMART Domains

Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	44	346	4.8e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166285

Predicted Effect

probably benign
Transcript: ENSMUST00000172320

SMART Domains

Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	68	1.4e-31	PFAM

Meta Mutation Damage Score

0.4334

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	A	T	9: 51,290,372	L128*	probably null	Het
2410131K14Rik	T	C	5: 118,259,439	V162A	probably damaging	Het
4930432E11Rik	G	A	7: 29,581,185		noncoding transcript	Het
Adam17	T	C	12: 21,329,086	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,640,269	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,268,797		probably benign	Het
Calu	A	G	6: 29,372,618	D112G	probably damaging	Het
Camk2a	G	C	18: 60,943,200		probably benign	Het
Cpn1	C	A	19: 43,956,512	R452L	probably benign	Het
Csmd3	T	A	15: 47,644,270	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,902,430	T824A	probably benign	Het
Cuedc2	C	T	19: 46,331,385	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,619,042	D74V	probably benign	Het
Ddi2	A	G	4: 141,695,469	S311P	probably damaging	Het
Ddx10	A	C	9: 53,229,198	I301R	possibly damaging	Het
Dmpk	T	C	7: 19,092,082		probably benign	Het
Dnah7b	C	T	1: 46,191,725	T1381I	probably damaging	Het
Dst	T	A	1: 34,179,589	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,158,439	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,148,009	V769G	probably benign	Het
Eno4	T	C	19: 58,946,806	V150A	probably benign	Het
Evc2	C	T	5: 37,417,539		probably benign	Het
Ext1	T	A	15: 53,101,752	Q406L	possibly damaging	Het
Fam104a	T	A	11: 113,677,394	R78S	probably damaging	Het
Fam35a	T	C	14: 34,245,258	T114A	probably benign	Het
Foxf2	A	G	13: 31,626,792	H238R	probably benign	Het
Frem2	C	G	3: 53,537,489	G2407A	probably benign	Het
Fzd10	A	G	5: 128,601,300	E28G	probably benign	Het
Galnt15	T	C	14: 32,052,367	F363L	probably damaging	Het
Gm1758	C	T	16: 14,507,173		noncoding transcript	Het
Gm5866	C	T	5: 52,582,614		noncoding transcript	Het
Gm6614	A	T	6: 141,972,235	H638Q	probably benign	Het
Heatr9	T	A	11: 83,514,600	M345L	probably benign	Het
Il23r	A	T	6: 67,431,645	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,257,136	I654T	probably damaging	Het
Napg	A	T	18: 62,978,020	K18*	probably null	Het
Ndst3	A	T	3: 123,561,907	W573R	probably damaging	Het
Nin	T	C	12: 70,030,918	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,010,284	R123*	probably null	Het
Oas1g	T	A	5: 120,877,018	N361Y	probably benign	Het
Olfr1100	A	T	2: 86,978,442	M118K	probably damaging	Het
Olfr1351	T	A	10: 79,017,357	F12I	possibly damaging	Het
Olfr470	T	A	7: 107,845,170	I188L	probably benign	Het
Osbpl10	T	C	9: 115,226,760	F667L	probably damaging	Het
Phldb2	T	C	16: 45,801,625	D664G	probably damaging	Het
Piezo2	C	T	18: 63,027,901	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,908,688	L615P	probably damaging	Het
Pnpla7	G	A	2: 25,011,649	M562I	probably benign	Het
Ppp1r13b	C	A	12: 111,844,989	R155L	probably damaging	Het
Pygb	C	T	2: 150,786,878	P4L	probably benign	Het
Rbm44	T	C	1: 91,156,840		probably null	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Rin3	A	G	12: 102,389,843	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,449,447	V619A	probably damaging	Het
Rnf182	A	G	13: 43,668,087	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,737,405	Y94F	probably damaging	Het
Serac1	C	A	17: 6,043,913		probably benign	Het
Slc6a19	A	T	13: 73,684,368	V402D	probably damaging	Het
Slco2b1	T	A	7: 99,667,094	M410L	probably benign	Het
Smarca2	T	C	19: 26,776,069		probably benign	Het
Sned1	A	G	1: 93,265,345	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,229,211	V161A	probably damaging	Het
Sptb	T	C	12: 76,598,727	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,182,761		probably null	Het
Taf4b	T	C	18: 14,804,554	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,349,930	*1163W	probably null	Het
Tor4a	G	A	2: 25,194,835	A352V	probably damaging	Het
Trpm4	A	G	7: 45,327,749	F81S	probably damaging	Het
Ttn	T	A	2: 76,950,092	D1105V	probably damaging	Het
Zfp551	A	G	7: 12,416,174	L436P	probably damaging	Het
Zfp975	G	T	7: 42,662,888	D100E	probably benign	Het
Zswim3	A	G	2: 164,820,112	I171V	probably benign	Het
Zwint	C	T	10: 72,656,462		probably benign	Het

Other mutations in Ccdc130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Ccdc130	APN	8	84260534	splice site	probably benign
IGL02536:Ccdc130	APN	8	84260616	nonsense	probably null
IGL02810:Ccdc130	APN	8	84264368	splice site	probably benign
R0350:Ccdc130	UTSW	8	84260648	missense	probably damaging	1.00
R0567:Ccdc130	UTSW	8	84260665	missense	probably damaging	1.00
R1807:Ccdc130	UTSW	8	84260307	missense	probably damaging	1.00
R2209:Ccdc130	UTSW	8	84263869	missense	probably benign	0.00
R3933:Ccdc130	UTSW	8	84260352	missense	probably benign	0.08
R3949:Ccdc130	UTSW	8	84258824	missense	probably benign	0.03
R4633:Ccdc130	UTSW	8	84260395	missense	probably benign	0.06
R4715:Ccdc130	UTSW	8	84263874	missense	probably damaging	1.00
R4722:Ccdc130	UTSW	8	84258810	missense	probably benign	0.00
R5001:Ccdc130	UTSW	8	84258675	missense	probably benign	0.10
R5631:Ccdc130	UTSW	8	84263881	missense	probably damaging	0.99
R6434:Ccdc130	UTSW	8	84263001	missense	probably damaging	1.00
R6467:Ccdc130	UTSW	8	84258689	missense	probably benign
R7259:Ccdc130	UTSW	8	84260317	missense	probably damaging	1.00
R7822:Ccdc130	UTSW	8	84261782	missense	probably damaging	1.00
R8549:Ccdc130	UTSW	8	84258770	missense	probably benign	0.05
Z1088:Ccdc130	UTSW	8	84258909	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAGGGTTACATCAAGGCAC -3'
(R):5'- CAGAAAGTCCTCAGTGTGCAG -3'

Sequencing Primer
(F):5'- GGTTACATCAAGGCACAGGCATTC -3'
(R):5'- TGTGCAGCAGACAACTCCTTG -3'

Posted On

2017-02-10