Mutagenetix > Incidental Mutation

Incidental Mutation 'R9447:Efcab8'

713974

Institutional Source

Beutler Lab

Gene Symbol

Efcab8

Ensembl Gene

ENSMUSG00000044083

Gene Name

EF-hand calcium binding domain 8

Synonyms

EG329541

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R9447 (G1)

Quality Score

225.009

Status

Not 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: 99.7%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,651,051 (GRCm39)	Y58N	probably damaging	Het
Ago4	G	A	4: 126,402,151 (GRCm39)	P572S	probably benign	Het
Akr1c19	A	G	13: 4,296,838 (GRCm39)	I295V	probably benign	Het
Cadps2	A	T	6: 23,323,297 (GRCm39)	I1007K	probably damaging	Het
Cd47	C	A	16: 49,715,822 (GRCm39)	T196K		Het
Cdrt4	T	G	11: 62,883,418 (GRCm39)	L40R	probably damaging	Het
Cox16	A	T	12: 81,406,109 (GRCm39)	C72S	probably benign	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Daxx	A	T	17: 34,132,247 (GRCm39)	D497V	unknown	Het
Ddt	A	G	10: 75,608,671 (GRCm39)	V62A	possibly damaging	Het
Dhx57	A	G	17: 80,549,523 (GRCm39)	V1294A	probably damaging	Het
Dnaaf5	A	G	5: 139,163,743 (GRCm39)	T667A	probably damaging	Het
Dnase2a	A	C	8: 85,635,786 (GRCm39)	S90R	probably damaging	Het
Dytn	A	G	1: 63,700,302 (GRCm39)	V276A		Het
Enpp6	A	T	8: 47,483,600 (GRCm39)	R131W	probably damaging	Het
Epm2a	C	T	10: 11,324,432 (GRCm39)	H174Y	possibly damaging	Het
Fcho1	A	G	8: 72,169,913 (GRCm39)	L70P	probably damaging	Het
Fhip1b	G	T	7: 105,034,155 (GRCm39)	T492K	probably benign	Het
Fstl4	G	T	11: 53,077,166 (GRCm39)	C641F	probably damaging	Het
Ganab	C	T	19: 8,886,894 (GRCm39)	H327Y	probably damaging	Het
Gkn1	A	G	6: 87,323,322 (GRCm39)	Y164H	probably benign	Het
Gm57858	A	G	3: 36,074,195 (GRCm39)	V318A	possibly damaging	Het
Hpf1	A	G	8: 61,348,618 (GRCm39)	D111G	probably damaging	Het
Hs3st2	C	T	7: 120,992,289 (GRCm39)	R113W	probably damaging	Het
Ighm	A	T	12: 113,384,794 (GRCm39)	L353Q		Het
Krbox5	A	G	13: 67,981,953 (GRCm39)	E55G	probably damaging	Het
Ksr1	T	C	11: 78,909,159 (GRCm39)	D782G	unknown	Het
Lpin2	A	G	17: 71,539,087 (GRCm39)	K392E	unknown	Het
Lrrc4	A	G	6: 28,830,650 (GRCm39)	S322P	probably benign	Het
Man2a1	T	C	17: 64,966,001 (GRCm39)	V313A	possibly damaging	Het
Mctp1	A	G	13: 76,727,904 (GRCm39)	S9G	probably benign	Het
Morn5	A	T	2: 35,969,525 (GRCm39)		probably null	Het
Mroh2b	C	T	15: 4,960,823 (GRCm39)	A795V	probably damaging	Het
Ncf4	G	T	15: 78,146,499 (GRCm39)	A310S	probably benign	Het
Nedd4	T	C	9: 72,577,381 (GRCm39)	Y69H	probably benign	Het
Nras	T	C	3: 102,967,673 (GRCm39)	F90L	possibly damaging	Het
Nrxn3	T	C	12: 89,221,678 (GRCm39)	F113L	probably benign	Het
Ntsr1	C	T	2: 180,180,540 (GRCm39)	T282I	probably benign	Het
Or1e1d-ps1	G	T	11: 73,819,617 (GRCm39)	C189F	probably benign	Het
Osbpl3	T	A	6: 50,321,857 (GRCm39)	K310*	probably null	Het
Pcca	T	C	14: 122,854,290 (GRCm39)	V194A	probably damaging	Het
Plekha5	A	G	6: 140,525,192 (GRCm39)	Y900C	probably damaging	Het
Prss22	T	C	17: 24,212,837 (GRCm39)	D300G	probably benign	Het
Rad17	A	T	13: 100,764,119 (GRCm39)	Y451N	probably damaging	Het
Rnf181	G	T	6: 72,337,570 (GRCm39)	T97K	probably damaging	Het
Sec24d	T	C	3: 123,084,162 (GRCm39)	S114P	probably benign	Het
Siae	C	A	9: 37,557,743 (GRCm39)	Q517K	probably benign	Het
Smurf2	A	T	11: 106,715,548 (GRCm39)	V653D	probably damaging	Het
Sqor	C	A	2: 122,649,520 (GRCm39)	T359K	possibly damaging	Het
Taf6	A	T	5: 138,176,970 (GRCm39)	*637R	probably null	Het
Tas2r109	A	C	6: 132,957,270 (GRCm39)	M220R	probably damaging	Het
Tlr2	T	A	3: 83,748,445 (GRCm39)		probably null	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem8b	T	G	4: 43,685,766 (GRCm39)	L179R	probably damaging	Het
Tnfrsf10b	T	A	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Trip11	T	A	12: 101,850,148 (GRCm39)	K1305N	probably damaging	Het
Ttn	C	A	2: 76,582,862 (GRCm39)	W22677L	probably damaging	Het
Ube2r2	T	C	4: 41,190,655 (GRCm39)	V183A	probably damaging	Het
Ubqln4	T	A	3: 88,464,124 (GRCm39)	D208E	probably benign	Het
Ugt2a3	T	A	5: 87,473,330 (GRCm39)	N529I	probably benign	Het
Vmn1r125	A	G	7: 21,006,627 (GRCm39)	N175S	probably benign	Het
Xirp2	T	A	2: 67,338,950 (GRCm39)	I397K	probably damaging	Het
Zfp821	G	A	8: 110,450,816 (GRCm39)	V270I	probably damaging	Het
Zfp935	A	G	13: 62,602,842 (GRCm39)	V99A	possibly 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
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
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'- AGCTGTGGTCACTAAGGCAAG -3'
(R):5'- AGTGCCATGCAAAGAGACAC -3'

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

Posted On

2022-06-15