Mutagenetix > Incidental Mutation

Incidental Mutation 'R6740:Efcab8'

527434

Institutional Source

Beutler Lab

Gene Symbol

Efcab8

Ensembl Gene

ENSMUSG00000044083

Gene Name

EF-hand calcium binding domain 8

Synonyms

EG329541

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6740 (G1) of strain 613

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153621851-153686671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153646814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 381 (H381R)

Ref Sequence

ENSEMBL: ENSMUSP00000135661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126656]

AlphaFold

Q8C9R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000126656
AA Change: H381R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cyp2e1	C	T	7: 140,343,693 (GRCm39)		probably benign	Het
Eea1	C	G	10: 95,859,855 (GRCm39)	H714D	probably benign	Het
Fer1l4	A	G	2: 155,873,142 (GRCm39)	S1313P	probably damaging	Het
Itih3	T	C	14: 30,634,644 (GRCm39)	N121S	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch1	A	G	14: 75,049,063 (GRCm39)	S395P	probably benign	Het
Rnf180	G	A	13: 105,318,014 (GRCm39)	A466V	possibly damaging	Het
Zfp1006	A	C	8: 129,960,881 (GRCm39)		probably null	Het

Other mutations in Efcab8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1709:Efcab8	UTSW	2	153,656,290 (GRCm39)	splice site	probably null
R2324:Efcab8	UTSW	2	153,625,729 (GRCm39)	splice site	probably null
R4002:Efcab8	UTSW	2	153,623,726 (GRCm39)	missense	probably benign	0.20
R5208:Efcab8	UTSW	2	153,644,343 (GRCm39)	nonsense	probably null
R5393:Efcab8	UTSW	2	153,622,903 (GRCm39)	missense	unknown
R5411:Efcab8	UTSW	2	153,625,676 (GRCm39)	missense	probably damaging	0.96
R5766:Efcab8	UTSW	2	153,622,912 (GRCm39)	missense	possibly damaging	0.90
R6255:Efcab8	UTSW	2	153,652,188 (GRCm39)	missense	possibly damaging	0.87
R6266:Efcab8	UTSW	2	153,625,688 (GRCm39)	missense	probably damaging	1.00
R6714:Efcab8	UTSW	2	153,631,130 (GRCm39)	missense	probably damaging	0.99
R7706:Efcab8	UTSW	2	153,623,695 (GRCm39)	missense
R7719:Efcab8	UTSW	2	153,629,665 (GRCm39)	missense
R7765:Efcab8	UTSW	2	153,685,110 (GRCm39)	missense
R7822:Efcab8	UTSW	2	153,652,832 (GRCm39)	missense	unknown
R7994:Efcab8	UTSW	2	153,625,724 (GRCm39)	missense
R8207:Efcab8	UTSW	2	153,631,145 (GRCm39)	missense	probably damaging	1.00
R8874:Efcab8	UTSW	2	153,640,569 (GRCm39)	missense
R8980:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9036:Efcab8	UTSW	2	153,622,888 (GRCm39)	missense
R9133:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9207:Efcab8	UTSW	2	153,656,339 (GRCm39)	missense	unknown
R9266:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9267:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9269:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9447:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9448:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9451:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9766:Efcab8	UTSW	2	153,656,362 (GRCm39)	missense	unknown
Z1177:Efcab8	UTSW	2	153,640,600 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCTGAGACAGGGATGGGC -3'
(R):5'- ATCTGTTTAAGGCTTGCCTGC -3'

Sequencing Primer
(F):5'- AGACACTTTGGCCATGAGACCTG -3'
(R):5'- GCTTGCCTGCCACCTGC -3'

Posted On

2018-07-23