Mutagenetix > Incidental Mutation

Incidental Mutation 'R8207:Efcab8'

635948

Institutional Source

Beutler Lab

Gene Symbol

Efcab8

Ensembl Gene

ENSMUSG00000044083

Gene Name

EF-hand calcium binding domain 8

Synonyms

EG329541

MMRRC Submission

067630-MU

Accession Numbers

Essential gene?

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

Stock #

R8207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153621851-153686671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 153631145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 192 (L192V)

Ref Sequence

ENSEMBL: ENSMUSP00000135811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144827]

AlphaFold

Q8C9R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000144827
AA Change: L192V

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

SMART Domains

Protein: ENSMUSP00000135811
Gene: ENSMUSG00000044083
AA Change: L192V

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
SCOP:d1mr8a_	104	184	5e-7	SMART
Blast:EFh	155	178	2e-7	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,552,491 (GRCm39)	M150I	possibly damaging	Het
Arhgef11	A	G	3: 87,606,082 (GRCm39)	N279S	possibly damaging	Het
Arid3a	T	C	10: 79,786,760 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,646,446 (GRCm39)	T1840A	possibly damaging	Het
Ccdc14	T	A	16: 34,525,413 (GRCm39)	N235K	possibly damaging	Het
Cdh20	T	C	1: 109,922,076 (GRCm39)	V56A	probably damaging	Het
Clec16a	G	A	16: 10,512,574 (GRCm39)	R837H	probably damaging	Het
Clec16a	A	G	16: 10,445,312 (GRCm39)	N518S	probably benign	Het
Cog7	T	C	7: 121,576,515 (GRCm39)	D137G	possibly damaging	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Farp2	A	G	1: 93,548,965 (GRCm39)	R1024G	probably benign	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmo1	T	A	1: 162,677,676 (GRCm39)	T147S	probably benign	Het
Fryl	A	C	5: 73,257,843 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,770,122 (GRCm39)	I305L	probably benign	Het
Guca2a	A	G	4: 119,494,951 (GRCm39)	N2D	unknown	Het
Iqcd	C	T	5: 120,740,514 (GRCm39)	R282W	probably damaging	Het
Lamc1	A	C	1: 153,126,268 (GRCm39)	C475G	probably damaging	Het
Map3k5	AAAAGAAAAAGA	AA	10: 19,986,612 (GRCm39)		probably null	Het
Med13	A	T	11: 86,194,375 (GRCm39)	D789E	probably damaging	Het
Mn1	A	G	5: 111,569,651 (GRCm39)	Y1207C	probably damaging	Het
Mroh2b	A	G	15: 4,967,892 (GRCm39)	D977G	possibly damaging	Het
Mrpl53	A	T	6: 83,086,169 (GRCm39)	N26I	probably damaging	Het
Nell1	A	T	7: 49,869,760 (GRCm39)		probably null	Het
Ogdh	T	G	11: 6,299,329 (GRCm39)	F743V	probably benign	Het
Or4d10b	A	T	19: 12,036,222 (GRCm39)	M298K	possibly damaging	Het
Or4n4	C	T	14: 50,519,036 (GRCm39)	V225I	probably benign	Het
Or6c3	A	G	10: 129,308,953 (GRCm39)	T131A	probably benign	Het
Plscr1l1	T	A	9: 92,233,061 (GRCm39)	F61L	probably benign	Het
Pmvk	A	G	3: 89,375,899 (GRCm39)	E174G	probably benign	Het
Pou6f2	T	C	13: 18,414,158 (GRCm39)	N206D		Het
Prelid3a	A	T	18: 67,606,018 (GRCm39)	S42C	probably benign	Het
Riok1	T	A	13: 38,236,296 (GRCm39)	H347Q	probably damaging	Het
Ryr1	A	G	7: 28,789,650 (GRCm39)	L1488P	probably damaging	Het
Shkbp1	A	G	7: 27,052,109 (GRCm39)	V158A	probably benign	Het
Slc9c1	A	G	16: 45,360,076 (GRCm39)	I43M	possibly damaging	Het
Smarca2	A	G	19: 26,654,080 (GRCm39)	N755S	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfb2m	G	A	1: 179,373,668 (GRCm39)	P10L	probably benign	Het
Trim30c	T	C	7: 104,032,703 (GRCm39)	M252V	probably benign	Het
Ttll1	A	G	15: 83,384,279 (GRCm39)	L116P	probably damaging	Het
Tubd1	C	T	11: 86,440,248 (GRCm39)	H91Y	possibly damaging	Het
Vgll4	A	G	6: 114,839,786 (GRCm39)	S175P	probably damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Vmn2r80	C	T	10: 79,030,150 (GRCm39)	Q659*	probably null	Het
Zfp382	A	G	7: 29,833,840 (GRCm39)	D497G	possibly damaging	Het
Zfp41	A	G	15: 75,490,384 (GRCm39)	E112G	probably damaging	Het
Zfyve26	A	G	12: 79,307,605 (GRCm39)	S1754P	probably damaging	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
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'- ACAGCCTTCAGAGCCACTTAG -3'
(R):5'- CTTTGTCATCATGACCACCTACAG -3'

Sequencing Primer
(F):5'- CTTCAGAGCCACTTAGAGGGG -3'
(R):5'- GTCATCATGACCACCTACAGATTGTG -3'

Posted On

2020-07-13