Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00970:Cabp7'

28626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabp7

Ensembl Gene

ENSMUSG00000009075

Gene Name

calcium binding protein 7

Synonyms

calneuron II

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL00970

Quality Score

Status

Chromosome

Chromosomal Location

4686892-4696778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4688931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 180 (I180V)

Ref Sequence

ENSEMBL: ENSMUSP00000009219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009219] [ENSMUST00000009220]

AlphaFold

Q91ZM8

Predicted Effect

probably benign
Transcript: ENSMUST00000009219
AA Change: I180V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000009219
Gene: ENSMUSG00000009075
AA Change: I180V

Domain	Start	End	E-Value	Type
EFh	37	65	1.21e-9	SMART
EFh	73	101	4.56e-5	SMART
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000009220

SMART Domains

Protein: ENSMUSP00000009220
Gene: ENSMUSG00000009076

Domain	Start	End	E-Value	Type
Pfam:zf-U1	2	38	6.5e-10	PFAM
ZnF_C3H1	52	78	2.3e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154341

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,144,149 (GRCm39)	N910K	possibly damaging	Het
Atp8b5	A	G	4: 43,311,938 (GRCm39)	T184A	probably benign	Het
Casp8ap2	A	G	4: 32,646,182 (GRCm39)	T1752A	probably benign	Het
Dgkb	T	C	12: 38,240,082 (GRCm39)	L453P	probably damaging	Het
Disp2	A	C	2: 118,622,274 (GRCm39)	D1002A	probably damaging	Het
Eif3c	G	A	7: 126,158,180 (GRCm39)	P259S	probably benign	Het
Eif4a3l1	A	G	6: 136,306,109 (GRCm39)	D169G	probably damaging	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fhod1	C	A	8: 106,058,734 (GRCm39)	V745L	possibly damaging	Het
Gprin3	T	C	6: 59,330,822 (GRCm39)	E495G	possibly damaging	Het
Grm5	T	C	7: 87,453,104 (GRCm39)	I247T	probably damaging	Het
Herc2	T	C	7: 55,830,812 (GRCm39)		probably benign	Het
Hoatz	T	A	9: 50,994,886 (GRCm39)	K148*	probably null	Het
Hspg2	C	A	4: 137,269,901 (GRCm39)	Q2311K	probably benign	Het
Krt26	T	C	11: 99,222,107 (GRCm39)	Y400C	probably benign	Het
Lct	A	T	1: 128,231,805 (GRCm39)	D681E	probably damaging	Het
Lgalsl	G	T	11: 20,776,493 (GRCm39)	P133Q	probably benign	Het
Man2b2	C	T	5: 36,973,487 (GRCm39)	W76*	probably null	Het
Mylk4	T	C	13: 32,899,905 (GRCm39)	E326G	probably damaging	Het
Odam	T	G	5: 88,034,467 (GRCm39)		probably benign	Het
Pabpc4	T	C	4: 123,180,608 (GRCm39)	I110T	probably damaging	Het
Pcdh15	A	T	10: 74,215,172 (GRCm39)	D47V	probably damaging	Het
Plekhg4	C	T	8: 106,105,067 (GRCm39)	R577C	probably benign	Het
Pnpo	C	A	11: 96,834,618 (GRCm39)	C26F	possibly damaging	Het
Polg	T	C	7: 79,101,493 (GRCm39)	I1071M	probably benign	Het
Prr23a2	A	G	9: 98,739,014 (GRCm39)	D124G	probably benign	Het
Rexo1	C	T	10: 80,386,798 (GRCm39)	V87I	probably damaging	Het
Robo2	C	A	16: 73,693,934 (GRCm39)	V1502L	probably benign	Het
Ruvbl2	A	G	7: 45,078,994 (GRCm39)	L50P	possibly damaging	Het
Ryr3	T	C	2: 112,595,021 (GRCm39)	K2534E	probably damaging	Het
Scfd2	T	C	5: 74,691,595 (GRCm39)	H229R	possibly damaging	Het
Sesn3	A	G	9: 14,232,438 (GRCm39)	D237G	probably damaging	Het
Shank1	T	C	7: 44,003,662 (GRCm39)	S1785P	possibly damaging	Het
Slc11a1	A	G	1: 74,419,821 (GRCm39)	T165A	probably damaging	Het
Star	G	A	8: 26,302,894 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,653,152 (GRCm39)	N575Y	probably damaging	Het
Unc5d	T	C	8: 29,186,456 (GRCm39)	T598A	probably benign	Het
Vmn1r200	A	T	13: 22,579,893 (GRCm39)	Q232L	probably damaging	Het
Wdr31	T	C	4: 62,375,757 (GRCm39)	T233A	probably damaging	Het
Zzef1	G	A	11: 72,806,071 (GRCm39)	R2669Q	probably benign	Het

Other mutations in Cabp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02852:Cabp7	APN	11	4,688,912 (GRCm39)	missense	probably damaging	1.00
R0746:Cabp7	UTSW	11	4,688,900 (GRCm39)	missense	probably damaging	1.00
R1612:Cabp7	UTSW	11	4,689,198 (GRCm39)	missense	probably damaging	0.99
R2697:Cabp7	UTSW	11	4,688,837 (GRCm39)	missense	probably damaging	1.00
R4687:Cabp7	UTSW	11	4,689,265 (GRCm39)	nonsense	probably null
R5216:Cabp7	UTSW	11	4,688,873 (GRCm39)	missense	probably damaging	1.00
R6644:Cabp7	UTSW	11	4,690,396 (GRCm39)	missense	probably benign	0.00
R7046:Cabp7	UTSW	11	4,688,886 (GRCm39)	missense	probably damaging	0.99
R7270:Cabp7	UTSW	11	4,696,676 (GRCm39)	missense	possibly damaging	0.64
R7422:Cabp7	UTSW	11	4,688,856 (GRCm39)	missense	probably damaging	1.00
R7806:Cabp7	UTSW	11	4,688,889 (GRCm39)	missense	probably damaging	1.00
R8928:Cabp7	UTSW	11	4,696,640 (GRCm39)	missense	possibly damaging	0.80
R9587:Cabp7	UTSW	11	4,688,865 (GRCm39)	missense	probably damaging	1.00
Z1176:Cabp7	UTSW	11	4,696,669 (GRCm39)	missense	probably benign

Posted On

2013-04-17