Mutagenetix > Incidental Mutation

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

Ndp52l1, Ndp52, 2410154J16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

95990152-96002790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95994098 bp (GRCm39)

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: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,308,206 (GRCm39)	I175M	probably benign	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,856,628 (GRCm39)	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Krt5	A	G	15: 101,615,983 (GRCm39)	F544S	unknown	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Or6p1	A	C	1: 174,258,743 (GRCm39)	I250L	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rap1b	A	T	10: 117,654,480 (GRCm39)	L120*	probably null	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,018,703 (GRCm39)	M141L	probably benign	Het

Other mutations in Calcoco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0671:Calcoco2	UTSW	11	95,998,354 (GRCm39)	missense	probably damaging	1.00
R1668:Calcoco2	UTSW	11	95,993,563 (GRCm39)	missense	probably benign	0.33
R4678:Calcoco2	UTSW	11	95,994,374 (GRCm39)	missense	probably damaging	1.00
R4812:Calcoco2	UTSW	11	95,998,276 (GRCm39)	missense	probably damaging	1.00
R5481:Calcoco2	UTSW	11	95,998,369 (GRCm39)	missense	probably damaging	1.00
R5512:Calcoco2	UTSW	11	95,994,162 (GRCm39)	missense	probably damaging	1.00
R6691:Calcoco2	UTSW	11	95,990,934 (GRCm39)	missense	unknown
R6997:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R7289:Calcoco2	UTSW	11	95,990,823 (GRCm39)	missense	unknown
R7715:Calcoco2	UTSW	11	95,990,862 (GRCm39)	frame shift	probably null
R7851:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R7872:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R7939:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R8027:Calcoco2	UTSW	11	95,991,241 (GRCm39)	splice site	probably benign
R8079:Calcoco2	UTSW	11	95,998,363 (GRCm39)	missense	probably damaging	1.00
R8529:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R8700:Calcoco2	UTSW	11	95,994,330 (GRCm39)	missense	probably benign	0.09
R8865:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R8870:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R8909:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R8933:Calcoco2	UTSW	11	95,998,252 (GRCm39)	splice site	probably benign
R9073:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R9359:Calcoco2	UTSW	11	95,990,862 (GRCm39)	frame shift	probably null
R9538:Calcoco2	UTSW	11	95,990,808 (GRCm39)	small deletion	probably benign
R9614:Calcoco2	UTSW	11	95,991,185 (GRCm39)	missense	probably benign	0.01
R9621:Calcoco2	UTSW	11	95,990,862 (GRCm39)	frame shift	probably null
R9664:Calcoco2	UTSW	11	95,991,104 (GRCm39)	missense	unknown
X0027:Calcoco2	UTSW	11	95,998,385 (GRCm39)	missense	probably benign	0.03
Z1176:Calcoco2	UTSW	11	95,994,346 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02