Mutagenetix > Incidental Mutation

Incidental Mutation 'R8980:Efcab8'

683678

Institutional Source

Beutler Lab

Gene Symbol

Efcab8

Ensembl Gene

ENSMUSG00000044083

Gene Name

EF-hand calcium binding domain 8

Synonyms

EG329541

MMRRC Submission

068813-MU

Accession Numbers

Essential gene?

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

Stock #

R8980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153621851-153686671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 153646861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 397 (V397L)

Ref Sequence

ENSEMBL: ENSMUSP00000135661 (fasta)

Gene Model

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

AlphaFold

Q8C9R9

Predicted Effect

unknown
Transcript: ENSMUST00000126656
AA Change: V397L

Meta Mutation Damage Score

0.1008

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	C	16: 14,278,961 (GRCm39)	M1090I	probably damaging	Het
Ak7	T	A	12: 105,747,158 (GRCm39)	V675E	probably benign	Het
Ano10	T	A	9: 122,090,558 (GRCm39)	I252L	probably benign	Het
Ano6	A	G	15: 95,865,563 (GRCm39)	Y828C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,873 (GRCm39)	S40R	probably damaging	Het
Bcl2l11	T	A	2: 128,000,200 (GRCm39)	I181N	possibly damaging	Het
Cdh23	T	C	10: 60,173,625 (GRCm39)	Y1621C	probably benign	Het
Cep68	A	T	11: 20,190,390 (GRCm39)	N207K	probably benign	Het
Clock	T	C	5: 76,402,286 (GRCm39)	I125V	probably benign	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Eps15l1	A	T	8: 73,127,734 (GRCm39)	H614Q	probably benign	Het
Gm29106	G	A	1: 118,127,114 (GRCm39)	G269R	possibly damaging	Het
Hexb	A	G	13: 97,330,689 (GRCm39)	V108A	probably damaging	Het
Ibtk	G	T	9: 85,614,783 (GRCm39)	C185*	probably null	Het
Josd2	A	G	7: 44,117,702 (GRCm39)		probably benign	Het
Krt76	C	T	15: 101,800,990 (GRCm39)	G102D	unknown	Het
Nrap	T	A	19: 56,343,970 (GRCm39)	S645C	probably damaging	Het
Or7g12	A	G	9: 18,899,423 (GRCm39)	I46M	probably damaging	Het
Pramel38	T	C	5: 94,366,035 (GRCm39)	L51P	probably damaging	Het
Prl2c5	T	A	13: 13,360,470 (GRCm39)	F46I	probably benign	Het
Prss16	C	T	13: 22,187,212 (GRCm39)	V453I	probably benign	Het
Psd	A	G	19: 46,310,657 (GRCm39)	L464P	possibly damaging	Het
Ptprb	T	C	10: 116,119,526 (GRCm39)	L220P	probably benign	Het
Rab7	A	T	6: 87,977,502 (GRCm39)	V180E	probably benign	Het
Rc3h1	A	G	1: 160,782,595 (GRCm39)	I691M	probably benign	Het
Rnf150	A	G	8: 83,717,087 (GRCm39)	N198S	probably benign	Het
Sema4g	A	T	19: 44,981,583 (GRCm39)	M100L	probably benign	Het
Slc25a21	A	G	12: 56,816,949 (GRCm39)	S106P	probably benign	Het
Slc27a5	C	A	7: 12,725,090 (GRCm39)	R452S	probably benign	Het
St8sia5	A	G	18: 77,333,761 (GRCm39)		probably null	Het
Themis3	A	T	17: 66,862,536 (GRCm39)	I474N	probably damaging	Het
Uckl1	C	A	2: 181,216,157 (GRCm39)		probably benign	Het
Vmn1r177	A	G	7: 23,565,144 (GRCm39)	V244A	probably damaging	Het
Vmn2r1	T	A	3: 64,010,501 (GRCm39)	Y580N		Het
Zfp1006	G	A	8: 129,945,680 (GRCm39)	P382S	probably damaging	Het
Zfp11	T	A	5: 129,737,843 (GRCm39)	M1L	probably benign	Het
Zfp462	TACCACCACCACCACCACCACCA	TACCACCACCACCACCACCA	4: 55,009,681 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp827	T	C	8: 79,803,092 (GRCm39)	S555P	probably benign	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
R6740:Efcab8	UTSW	2	153,646,814 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGGCCATAGACTTTGTGACC -3'
(R):5'- TGAATGAGCCTCAAGACAGTG -3'

Sequencing Primer
(F):5'- GGCCATAGACTTTGTGACCTCCAG -3'
(R):5'- CAGAGGCAAGTCTTCTCTCAG -3'

Posted On

2021-10-11