Mutagenetix > Incidental Mutation

Incidental Mutation 'R0611:Efcab7'

54692

Institutional Source

Beutler Lab

Gene Symbol

Efcab7

Ensembl Gene

ENSMUSG00000073791

Gene Name

EF-hand calcium binding domain 7

Synonyms

MMRRC Submission

038800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99717440-99769985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99758886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 361 (N361K)

Ref Sequence

ENSEMBL: ENSMUSP00000095572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097959]

AlphaFold

Q8VDY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000097959
AA Change: N361K

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

SMART Domains

Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: N361K

Domain	Start	End	E-Value	Type
low complexity region	85	99	N/A	INTRINSIC
SCOP:d2pvba_	339	408	2e-4	SMART
Blast:EFh	348	376	2e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123830

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 94.9%

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,479 (GRCm39)	M819K	possibly damaging	Het
Adamtsl3	T	G	7: 82,178,120 (GRCm39)	C528G	probably damaging	Het
Akap9	A	G	5: 4,004,870 (GRCm39)	K148E	probably benign	Het
Akr1b1	A	T	6: 34,286,577 (GRCm39)	D225E	probably benign	Het
Alms1	C	A	6: 85,655,653 (GRCm39)	Q2931K	possibly damaging	Het
Ano3	T	C	2: 110,715,346 (GRCm39)	K31E	possibly damaging	Het
Cdc37	A	G	9: 21,053,537 (GRCm39)	I242T	probably damaging	Het
Celsr1	T	A	15: 85,816,524 (GRCm39)	K1806N	possibly damaging	Het
Clpb	T	A	7: 101,436,956 (GRCm39)	I707N	possibly damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Creb3l2	A	T	6: 37,311,416 (GRCm39)	S458T	probably benign	Het
Ctnnd2	C	A	15: 31,009,230 (GRCm39)	T1109K	possibly damaging	Het
Dcaf10	T	A	4: 45,373,011 (GRCm39)	L425Q	probably damaging	Het
Dlec1	A	G	9: 118,941,167 (GRCm39)	E239G	probably benign	Het
Dnah2	T	C	11: 69,390,020 (GRCm39)	K742E	probably damaging	Het
Dsp	A	T	13: 38,371,717 (GRCm39)	R889S	probably damaging	Het
Dync1h1	T	A	12: 110,599,222 (GRCm39)	M1859K	probably damaging	Het
Eps8l2	T	C	7: 140,935,646 (GRCm39)	V139A	probably damaging	Het
Fads3	T	G	19: 10,019,200 (GRCm39)	H35Q	probably damaging	Het
Fam163b	C	A	2: 27,003,583 (GRCm39)	V24F	probably damaging	Het
Gm14496	A	T	2: 181,636,904 (GRCm39)	T121S	probably benign	Het
Gm4799	C	T	10: 82,790,563 (GRCm39)		noncoding transcript	Het
Gm7168	A	T	17: 14,169,797 (GRCm39)	D388V	probably benign	Het
Gmeb1	A	T	4: 131,953,386 (GRCm39)	L460*	probably null	Het
Gpc6	T	G	14: 118,212,430 (GRCm39)	F534V	probably null	Het
Hectd3	A	G	4: 116,853,241 (GRCm39)	D156G	possibly damaging	Het
Itga6	T	C	2: 71,650,404 (GRCm39)	I150T	possibly damaging	Het
Kansl1	A	G	11: 104,229,012 (GRCm39)	M863T	probably benign	Het
Kcnb2	A	T	1: 15,780,664 (GRCm39)	Y512F	probably benign	Het
Klhdc2	A	T	12: 69,347,053 (GRCm39)	M73L	probably benign	Het
Ktn1	A	G	14: 47,932,073 (GRCm39)	T667A	probably benign	Het
Lgsn	A	C	1: 31,242,736 (GRCm39)	I273L	probably benign	Het
Lilra5	A	G	7: 4,245,232 (GRCm39)	D292G	probably benign	Het
Mrps27	C	T	13: 99,541,582 (GRCm39)	R229C	probably damaging	Het
Muc5b	T	G	7: 141,416,173 (GRCm39)	S3040A	probably benign	Het
Nat14	T	C	7: 4,926,275 (GRCm39)	S7P	probably damaging	Het
Nfia	A	G	4: 97,671,694 (GRCm39)	I135V	possibly damaging	Het
Nkd1	G	A	8: 89,248,944 (GRCm39)	A30T	probably damaging	Het
Nup205	A	G	6: 35,202,903 (GRCm39)	D1370G	probably null	Het
Or1j15	C	G	2: 36,459,568 (GRCm39)		probably null	Het
Or4k15c	G	A	14: 50,321,310 (GRCm39)	T276I	probably damaging	Het
Or51k2	T	C	7: 103,596,400 (GRCm39)	L209P	probably damaging	Het
Or5p79	T	A	7: 108,221,494 (GRCm39)	N158K	possibly damaging	Het
Or8s10	T	C	15: 98,336,168 (GRCm39)	S273P	possibly damaging	Het
Orc1	C	T	4: 108,459,229 (GRCm39)	A466V	probably benign	Het
Otud7a	T	A	7: 63,385,638 (GRCm39)	D367E	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,263 (GRCm39)	Y191C	probably damaging	Het
Pclo	T	C	5: 14,762,828 (GRCm39)	V3767A	unknown	Het
Pclo	T	C	5: 14,728,789 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,628,225 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,842,483 (GRCm39)	F62S	probably damaging	Het
Rangrf	T	C	11: 68,863,518 (GRCm39)	S163G	probably benign	Het
Rgs12	C	A	5: 35,176,804 (GRCm39)	A65E	probably damaging	Het
Rrbp1	T	C	2: 143,830,436 (GRCm39)	N577S	probably damaging	Het
Septin11	A	G	5: 93,315,393 (GRCm39)	H374R	probably damaging	Het
Serpina5	T	G	12: 104,070,046 (GRCm39)	N314K	probably benign	Het
Sgce	T	C	6: 4,689,621 (GRCm39)	D395G	probably damaging	Het
Slc26a9	A	T	1: 131,690,499 (GRCm39)	N501I	probably damaging	Het
Slc9c1	A	G	16: 45,401,965 (GRCm39)	D784G	possibly damaging	Het
Snapc2	A	G	8: 4,305,676 (GRCm39)	D207G	probably benign	Het
Stard9	G	T	2: 120,529,738 (GRCm39)	M1998I	probably benign	Het
Stk38	A	C	17: 29,194,907 (GRCm39)	F280V	possibly damaging	Het
Tas2r126	A	G	6: 42,412,025 (GRCm39)	K186R	probably damaging	Het
Tdp1	A	C	12: 99,875,970 (GRCm39)	D307A	probably benign	Het
Tead2	A	G	7: 44,866,674 (GRCm39)	D11G	probably damaging	Het
Tmco4	C	A	4: 138,747,383 (GRCm39)	L211I	probably damaging	Het
Tmem183a	A	G	1: 134,280,115 (GRCm39)	F255S	probably damaging	Het
Tmem87a	C	T	2: 120,205,929 (GRCm39)	G349S	possibly damaging	Het
Tpte	G	A	8: 22,826,549 (GRCm39)	E377K	possibly damaging	Het
Trim32	T	C	4: 65,531,893 (GRCm39)	F150S	possibly damaging	Het
Trpc7	T	A	13: 57,035,636 (GRCm39)	K99M	probably damaging	Het
Ttc22	A	G	4: 106,491,381 (GRCm39)	K195E	probably damaging	Het
Txn2	G	A	15: 77,811,917 (GRCm39)	P7S	probably damaging	Het
Ubxn2a	G	A	12: 4,930,700 (GRCm39)	T220I	probably damaging	Het
Ufd1	A	G	16: 18,633,626 (GRCm39)	N17S	possibly damaging	Het
Unc13a	A	G	8: 72,102,509 (GRCm39)	S958P	probably damaging	Het
Vmn1r202	T	A	13: 22,685,824 (GRCm39)	M198L	probably damaging	Het
Vmn2r84	G	A	10: 130,221,991 (GRCm39)	A743V	probably damaging	Het
Washc5	A	G	15: 59,213,007 (GRCm39)	F891S	probably damaging	Het
Zfp708	T	C	13: 67,218,375 (GRCm39)	T495A	probably benign	Het
Zfp81	A	G	17: 33,553,593 (GRCm39)	I407T	probably benign	Het
Zswim5	T	C	4: 116,843,874 (GRCm39)		probably null	Het

Other mutations in Efcab7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Efcab7	APN	4	99,719,700 (GRCm39)	missense	probably benign	0.12
3-1:Efcab7	UTSW	4	99,758,966 (GRCm39)	missense	possibly damaging	0.83
R0023:Efcab7	UTSW	4	99,758,834 (GRCm39)	splice site	probably benign
R0085:Efcab7	UTSW	4	99,761,877 (GRCm39)	unclassified	probably benign
R0122:Efcab7	UTSW	4	99,749,560 (GRCm39)	splice site	probably benign
R0326:Efcab7	UTSW	4	99,719,631 (GRCm39)	missense	possibly damaging	0.86
R0382:Efcab7	UTSW	4	99,758,966 (GRCm39)	missense	possibly damaging	0.83
R0410:Efcab7	UTSW	4	99,735,487 (GRCm39)	critical splice donor site	probably null
R0413:Efcab7	UTSW	4	99,766,943 (GRCm39)	missense	probably damaging	1.00
R0689:Efcab7	UTSW	4	99,761,981 (GRCm39)	missense	probably damaging	1.00
R1114:Efcab7	UTSW	4	99,735,452 (GRCm39)	nonsense	probably null
R1459:Efcab7	UTSW	4	99,769,744 (GRCm39)	missense	probably null	1.00
R1722:Efcab7	UTSW	4	99,757,815 (GRCm39)	missense	probably benign	0.36
R1932:Efcab7	UTSW	4	99,768,215 (GRCm39)	missense	probably damaging	1.00
R1954:Efcab7	UTSW	4	99,757,887 (GRCm39)	missense	probably damaging	1.00
R2305:Efcab7	UTSW	4	99,719,718 (GRCm39)	missense	possibly damaging	0.95
R2358:Efcab7	UTSW	4	99,719,823 (GRCm39)	unclassified	probably benign
R2845:Efcab7	UTSW	4	99,766,835 (GRCm39)	missense	probably damaging	0.99
R3915:Efcab7	UTSW	4	99,735,375 (GRCm39)	missense	probably damaging	0.98
R4469:Efcab7	UTSW	4	99,766,901 (GRCm39)	missense	possibly damaging	0.73
R4686:Efcab7	UTSW	4	99,735,318 (GRCm39)	missense	probably benign	0.29
R4737:Efcab7	UTSW	4	99,719,805 (GRCm39)	nonsense	probably null
R4970:Efcab7	UTSW	4	99,719,780 (GRCm39)	missense	probably damaging	1.00
R5120:Efcab7	UTSW	4	99,754,688 (GRCm39)	missense	probably damaging	1.00
R5264:Efcab7	UTSW	4	99,735,372 (GRCm39)	missense	probably benign	0.27
R5366:Efcab7	UTSW	4	99,761,931 (GRCm39)	missense	possibly damaging	0.95
R5901:Efcab7	UTSW	4	99,766,941 (GRCm39)	missense	probably damaging	0.99
R6255:Efcab7	UTSW	4	99,717,627 (GRCm39)	unclassified	probably benign
R6438:Efcab7	UTSW	4	99,766,969 (GRCm39)	missense	probably benign	0.39
R6451:Efcab7	UTSW	4	99,719,738 (GRCm39)	nonsense	probably null
R6717:Efcab7	UTSW	4	99,761,931 (GRCm39)	missense	possibly damaging	0.95
R6766:Efcab7	UTSW	4	99,735,161 (GRCm39)	frame shift	probably null
R6855:Efcab7	UTSW	4	99,757,777 (GRCm39)	nonsense	probably null
R6865:Efcab7	UTSW	4	99,769,793 (GRCm39)	missense	probably damaging	1.00
R7868:Efcab7	UTSW	4	99,746,154 (GRCm39)	missense	probably benign	0.01
R7893:Efcab7	UTSW	4	99,746,058 (GRCm39)	missense	probably damaging	1.00
R8069:Efcab7	UTSW	4	99,717,615 (GRCm39)	missense	unknown
R8787:Efcab7	UTSW	4	99,757,791 (GRCm39)	missense	probably null	0.99
R9214:Efcab7	UTSW	4	99,735,437 (GRCm39)	missense	probably damaging	1.00
R9649:Efcab7	UTSW	4	99,761,902 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAAGGCTCTACCGCTGAGCTATAC -3'
(R):5'- AATAGGTTCTCTCACCCACCGTGC -3'

Sequencing Primer
(F):5'- agtggcttcttctgaccttg -3'
(R):5'- ACCCACCGTGCCAACTG -3'

Posted On

2013-07-11