Mutagenetix > Incidental Mutation

Incidental Mutation 'R5952:Efcab2'

470930

Institutional Source

Beutler Lab

Gene Symbol

Efcab2

Ensembl Gene

ENSMUSG00000026495

Gene Name

EF-hand calcium binding domain 2

Synonyms

D830011E08Rik, 1700073K01Rik

MMRRC Submission

044142-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

178233650-178312078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178303439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 121 (K121R)

Ref Sequence

ENSEMBL: ENSMUSP00000027775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027775]

AlphaFold

Q9CQ46

Predicted Effect

probably benign
Transcript: ENSMUST00000027775
AA Change: K121R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027775
Gene: ENSMUSG00000026495
AA Change: K121R

Domain	Start	End	E-Value	Type
EFh	20	48	1.4e0	SMART
EFh	98	126	2.63e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192905

Meta Mutation Damage Score

0.1103

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

91% (62/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,086,728 (GRCm39)	D296V	probably damaging	Het
Ak9	A	G	10: 41,233,559 (GRCm39)	E599G	possibly damaging	Het
Ank3	A	T	10: 69,822,293 (GRCm39)	I1604F	probably benign	Het
Arid4a	A	G	12: 71,109,980 (GRCm39)	D107G	probably benign	Het
Bltp1	A	G	3: 37,019,770 (GRCm39)	T2060A	probably damaging	Het
Btn2a2	A	T	13: 23,666,978 (GRCm39)	I209N	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,596,901 (GRCm39)	V1979A	probably damaging	Het
Cyp4a12b	C	T	4: 115,271,714 (GRCm39)	R142*	probably null	Het
Ddx23	A	T	15: 98,556,121 (GRCm39)	S66T	unknown	Het
Epb41l1	T	A	2: 156,345,708 (GRCm39)	V237D	probably damaging	Het
Epb41l1	G	T	2: 156,366,903 (GRCm39)	A579S	probably benign	Het
Epn1	G	A	7: 5,096,911 (GRCm39)	R231H	probably damaging	Het
Fbrs	T	C	7: 127,086,924 (GRCm39)	S649P	probably damaging	Het
Fezf1	A	G	6: 23,247,427 (GRCm39)	V216A	probably benign	Het
Gen1	A	T	12: 11,310,897 (GRCm39)	S112T	probably damaging	Het
Glrx2	A	G	1: 143,620,872 (GRCm39)	N84D	probably benign	Het
Gm1818	T	G	12: 48,602,719 (GRCm39)		noncoding transcript	Het
Hira	C	A	16: 18,753,815 (GRCm39)	T553K	possibly damaging	Het
Hnrnph3	A	G	10: 62,851,374 (GRCm39)		probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Jcad	A	G	18: 4,674,554 (GRCm39)	Q772R	probably damaging	Het
Lamb3	A	G	1: 193,014,670 (GRCm39)	T610A	probably benign	Het
Map3k19	T	C	1: 127,750,477 (GRCm39)	D958G	probably benign	Het
Map4k4	G	A	1: 40,039,082 (GRCm39)		probably benign	Het
Mocos	T	C	18: 24,834,444 (GRCm39)	V827A	possibly damaging	Het
Ms4a10	T	A	19: 10,941,486 (GRCm39)	D161V	probably damaging	Het
Myh9	A	G	15: 77,657,532 (GRCm39)	I1071T	possibly damaging	Het
Myo15a	A	G	11: 60,370,246 (GRCm39)	E1002G	possibly damaging	Het
Neurod6	G	A	6: 55,656,002 (GRCm39)	H212Y	probably damaging	Het
Or2v1	A	T	11: 49,025,399 (GRCm39)	I95F	probably damaging	Het
Or52z13	T	A	7: 103,247,174 (GRCm39)	I217N	probably damaging	Het
Or5b12	T	C	19: 12,897,194 (GRCm39)	N160D	probably benign	Het
Pcdhb17	T	C	18: 37,620,133 (GRCm39)	V641A	probably benign	Het
Ppp3ca	A	T	3: 136,634,332 (GRCm39)	M431L	probably benign	Het
Ptprk	A	T	10: 28,461,671 (GRCm39)	I69F	probably damaging	Het
Rab34	G	T	11: 78,081,094 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,318,406 (GRCm39)	N619S	probably benign	Het
Rnf169	T	C	7: 99,574,840 (GRCm39)	H585R	probably damaging	Het
Rps6kc1	A	G	1: 190,617,617 (GRCm39)	V129A	probably benign	Het
Siglecf	C	T	7: 43,005,351 (GRCm39)	T437M	probably benign	Het
Slc25a2	T	C	18: 37,771,335 (GRCm39)	N65D	probably benign	Het
Spire1	A	G	18: 67,639,779 (GRCm39)	S245P	probably benign	Het
Sptb	A	T	12: 76,679,158 (GRCm39)	M99K	probably benign	Het
Tacc1	G	T	8: 25,672,011 (GRCm39)	L406I	possibly damaging	Het
Tas2r140	T	C	6: 40,468,476 (GRCm39)	I102T	probably benign	Het
Trappc11	A	T	8: 47,949,952 (GRCm39)		probably null	Het
Trbv11	A	G	6: 41,084,153 (GRCm39)		noncoding transcript	Het
Trmt11	A	G	10: 30,436,838 (GRCm39)	Y301H	probably benign	Het
Tspo	A	G	15: 83,456,441 (GRCm39)	T75A	possibly damaging	Het
Ttn	T	C	2: 76,710,569 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,462,030 (GRCm39)	Q1210R	probably damaging	Het
Zhx3	A	T	2: 160,623,937 (GRCm39)	Y77N	probably damaging	Het

Other mutations in Efcab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Efcab2	APN	1	178,264,957 (GRCm39)	splice site	probably benign
IGL01865:Efcab2	APN	1	178,303,253 (GRCm39)	nonsense	probably null
IGL03122:Efcab2	APN	1	178,265,042 (GRCm39)	missense	probably damaging	1.00
R0153:Efcab2	UTSW	1	178,302,451 (GRCm39)	missense	possibly damaging	0.87
R0309:Efcab2	UTSW	1	178,303,469 (GRCm39)	splice site	probably benign
R0652:Efcab2	UTSW	1	178,308,911 (GRCm39)	missense	probably damaging	1.00
R1115:Efcab2	UTSW	1	178,265,062 (GRCm39)	splice site	probably benign
R6313:Efcab2	UTSW	1	178,308,936 (GRCm39)	missense	probably benign	0.01
R6679:Efcab2	UTSW	1	178,264,969 (GRCm39)	missense	probably benign	0.00
R7021:Efcab2	UTSW	1	178,308,925 (GRCm39)	missense	probably benign	0.00
R8214:Efcab2	UTSW	1	178,265,015 (GRCm39)	missense	probably benign	0.16
R8442:Efcab2	UTSW	1	178,265,001 (GRCm39)	missense	probably benign	0.01
R9481:Efcab2	UTSW	1	178,308,887 (GRCm39)	missense	probably damaging	1.00
R9625:Efcab2	UTSW	1	178,302,505 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GGGGAAGTGCCATTAGCCTAA -3'
(R):5'- GCATCTTTAAAACGTATTGATCTTTGC -3'

Sequencing Primer
(F):5'- GACCAGCTGCTGAAGATATCCTTTTG -3'
(R):5'- CGTATTGATCTTTGCATAAATTACCC -3'

Posted On

2017-03-31