Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Calcoco2'

415738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Calcoco2

Ensembl Gene

ENSMUSG00000006056

Gene Name

calcium binding and coiled-coil domain 2

Synonyms

Ndp52, Ndp52l1, 2410154J16Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

96099326-96111964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96103272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 116 (V116A)

Ref Sequence

ENSEMBL: ENSMUSP00000103309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068686] [ENSMUST00000097162]

AlphaFold

A2A6M5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068686
AA Change: V116A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087407
Gene: ENSMUSG00000006056
AA Change: V116A

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	16	258	4.5e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097162
AA Change: V116A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103309
Gene: ENSMUSG00000006056
AA Change: V116A

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	14	281	2.3e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Calcoco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0671:Calcoco2	UTSW	11	96107528	missense	probably damaging	1.00
R1668:Calcoco2	UTSW	11	96102737	missense	probably benign	0.33
R4678:Calcoco2	UTSW	11	96103548	missense	probably damaging	1.00
R4812:Calcoco2	UTSW	11	96107450	missense	probably damaging	1.00
R5481:Calcoco2	UTSW	11	96107543	missense	probably damaging	1.00
R5512:Calcoco2	UTSW	11	96103336	missense	probably damaging	1.00
R6691:Calcoco2	UTSW	11	96100108	missense	unknown
R6997:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R7289:Calcoco2	UTSW	11	96099997	missense	unknown
R7715:Calcoco2	UTSW	11	96100036	frame shift	probably null
R7851:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R7872:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R7939:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R8027:Calcoco2	UTSW	11	96100415	splice site	probably benign
R8079:Calcoco2	UTSW	11	96107537	missense	probably damaging	1.00
R8529:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R8700:Calcoco2	UTSW	11	96103504	missense	probably benign	0.09
R8865:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R8870:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R8909:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R8933:Calcoco2	UTSW	11	96107426	splice site	probably benign
R9073:Calcoco2	UTSW	11	96099982	small deletion	probably benign
R9359:Calcoco2	UTSW	11	96100036	frame shift	probably null
X0027:Calcoco2	UTSW	11	96107559	missense	probably benign	0.03
Z1176:Calcoco2	UTSW	11	96103520	missense	probably damaging	1.00

Posted On

2016-08-02