Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Efcab9'

292586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab9

Ensembl Gene

ENSMUSG00000044056

Gene Name

EF-hand calcium binding domain 9

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

32522751-32532081 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32522950 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 166 (I166V)

Ref Sequence

ENSEMBL: ENSMUSP00000060205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054327] [ENSMUST00000109377]

Predicted Effect

probably benign
Transcript: ENSMUST00000054327
AA Change: I166V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000060205
Gene: ENSMUSG00000044056
AA Change: I166V

Domain	Start	End	E-Value	Type
SCOP:d2sas__	46	182	7e-9	SMART
Blast:EFh	63	91	1e-7	BLAST
Blast:EFh	140	170	5e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109377

SMART Domains

Protein: ENSMUSP00000105002
Gene: ENSMUSG00000044056

Domain	Start	End	E-Value	Type
Blast:EFh	1	26	3e-7	BLAST
SCOP:d2sas__	2	88	2e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Efcab9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Efcab9	APN	11	32527451	missense	probably damaging	1.00
PIT4366001:Efcab9	UTSW	11	32523608	missense	probably damaging	1.00
R1764:Efcab9	UTSW	11	32524457	missense	possibly damaging	0.88
R3081:Efcab9	UTSW	11	32523689	missense	probably benign	0.01
R3751:Efcab9	UTSW	11	32527420	missense	probably benign	0.05
R5237:Efcab9	UTSW	11	32522832	missense	probably benign	0.01
R5375:Efcab9	UTSW	11	32527484	missense	probably damaging	1.00
R5475:Efcab9	UTSW	11	32522862	missense	probably damaging	0.96
R7707:Efcab9	UTSW	11	32522851	missense	possibly damaging	0.92
R7754:Efcab9	UTSW	11	32522941	missense	possibly damaging	0.56

Posted On

2015-04-16