Mutagenetix > Incidental Mutation

Incidental Mutation 'R3751:Efcab9'

271219

Institutional Source

Beutler Lab

Gene Symbol

Efcab9

Ensembl Gene

ENSMUSG00000044056

Gene Name

EF-hand calcium binding domain 9

Synonyms

1700007I06Rik, 4930403C08Rik

MMRRC Submission

040736-MU

Accession Numbers

Essential gene?

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

Stock #

R3751 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32472751-32482081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32477420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 34 (H34R)

Ref Sequence

ENSEMBL: ENSMUSP00000060205 (fasta)

Gene Model

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

AlphaFold

Q9DAM2

Predicted Effect

probably benign
Transcript: ENSMUST00000054327
AA Change: H34R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000060205
Gene: ENSMUSG00000044056
AA Change: H34R

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

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

93% (43/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,289,973 (GRCm39)	R183I	probably benign	Het
BC016579	A	T	16: 45,453,361 (GRCm39)		probably null	Het
BC051665	A	T	13: 60,931,145 (GRCm39)	F258I	probably damaging	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Ccdc125	A	G	13: 100,814,459 (GRCm39)	D13G	possibly damaging	Het
Ceacam18	T	A	7: 43,291,372 (GRCm39)	H271Q	probably damaging	Het
Cep104	A	G	4: 154,066,213 (GRCm39)	Y137C	probably damaging	Het
Clca3a1	A	G	3: 144,724,424 (GRCm39)	V212A	probably benign	Het
Clca3a2	A	T	3: 144,777,216 (GRCm39)	M885K	probably benign	Het
Col6a4	G	T	9: 105,949,313 (GRCm39)	T774N	probably damaging	Het
D430041D05Rik	T	C	2: 104,085,403 (GRCm39)	T1049A	possibly damaging	Het
Dlk1	A	G	12: 109,426,239 (GRCm39)	I276V	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Erc1	T	A	6: 119,801,921 (GRCm39)	H32L	probably damaging	Het
Ezh2	T	C	6: 47,532,998 (GRCm39)	I141M	possibly damaging	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Iqsec3	C	T	6: 121,353,214 (GRCm39)	A1135T	probably benign	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Itpr1	T	A	6: 108,326,641 (GRCm39)	I121N	probably damaging	Het
Krtap17-1	A	T	11: 99,884,481 (GRCm39)	C95*	probably null	Het
Lrrd1	T	A	5: 3,900,282 (GRCm39)	S196T	probably benign	Het
Man2c1	A	G	9: 57,048,058 (GRCm39)	Y748C	probably damaging	Het
Map4	A	G	9: 109,867,742 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Mtmr9	A	G	14: 63,780,997 (GRCm39)	L31P	probably damaging	Het
Myo5c	A	G	9: 75,183,284 (GRCm39)	Q886R	probably damaging	Het
Nhsl3	A	G	4: 129,118,115 (GRCm39)		probably benign	Het
Or2g1	T	C	17: 38,107,123 (GRCm39)	S263P	possibly damaging	Het
Or6c38	T	A	10: 128,929,175 (GRCm39)	I223F	probably damaging	Het
Or7h8	C	T	9: 20,124,556 (GRCm39)	L304F	probably damaging	Het
Paqr8	A	G	1: 21,005,856 (GRCm39)	T337A	probably benign	Het
Pdgfd	A	T	9: 6,337,447 (GRCm39)		probably benign	Het
Ppm1k	T	G	6: 57,501,845 (GRCm39)	E106A	probably benign	Het
Rbp3	A	T	14: 33,677,969 (GRCm39)	E639V	probably damaging	Het
Rnf214	A	C	9: 45,778,901 (GRCm39)	I581S	probably damaging	Het
Scaf11	A	G	15: 96,316,417 (GRCm39)	V1049A	probably damaging	Het
Slc51a	A	G	16: 32,295,292 (GRCm39)	L262P	probably benign	Het
Slc6a21	G	A	7: 44,929,928 (GRCm39)	V139I	probably benign	Het
Slc8a3	G	T	12: 81,250,912 (GRCm39)	L684M	probably damaging	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,066 (GRCm39)		probably benign	Het
Vmn1r189	T	C	13: 22,286,382 (GRCm39)	T152A	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp366	A	G	13: 99,365,352 (GRCm39)	Y171C	probably damaging	Het

Other mutations in Efcab9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Efcab9	APN	11	32,477,451 (GRCm39)	missense	probably damaging	1.00
IGL02419:Efcab9	APN	11	32,472,950 (GRCm39)	missense	probably benign	0.17
PIT4366001:Efcab9	UTSW	11	32,473,608 (GRCm39)	missense	probably damaging	1.00
R1764:Efcab9	UTSW	11	32,474,457 (GRCm39)	missense	possibly damaging	0.88
R3081:Efcab9	UTSW	11	32,473,689 (GRCm39)	missense	probably benign	0.01
R5237:Efcab9	UTSW	11	32,472,832 (GRCm39)	missense	probably benign	0.01
R5375:Efcab9	UTSW	11	32,477,484 (GRCm39)	missense	probably damaging	1.00
R5475:Efcab9	UTSW	11	32,472,862 (GRCm39)	missense	probably damaging	0.96
R7707:Efcab9	UTSW	11	32,472,851 (GRCm39)	missense	possibly damaging	0.92
R7754:Efcab9	UTSW	11	32,472,941 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- CACACAGCCTGAGGTAATCC -3'
(R):5'- TTCTGCCAGGTCATCTTGGG -3'

Sequencing Primer
(F):5'- GGTAATCCTCTACACCGAACTG -3'
(R):5'- ACCCTGTCCAACATTCTAGTTCTGAG -3'

Posted On

2015-03-18