Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Efcab7'

64821

Institutional Source

Beutler Lab

Gene Symbol

Efcab7

Ensembl Gene

ENSMUSG00000073791

Gene Name

EF-hand calcium binding domain 7

Synonyms

MMRRC Submission

038318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0023 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

99717440-99769985 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 99758834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095572 (fasta)

Gene Model

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

AlphaFold

Q8VDY4

Predicted Effect

probably benign
Transcript: ENSMUST00000097959

SMART Domains

Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791

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: 97.8%
20x: 96.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	C	4: 144,255,567 (GRCm39)	D329A	probably damaging	Het
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Ang4	G	T	14: 52,001,860 (GRCm39)	Y29*	probably null	Het
Aqp11	A	T	7: 97,375,896 (GRCm39)	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Bpifa3	A	C	2: 153,980,070 (GRCm39)	H234P	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Casp8ap2	A	G	4: 32,640,185 (GRCm39)	D413G	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Crip3	A	G	17: 46,741,920 (GRCm39)	K136E	probably damaging	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,726 (GRCm39)	S367P	probably damaging	Het
Dhrs11	A	T	11: 84,713,976 (GRCm39)	L125H	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eif2ak4	A	C	2: 118,293,202 (GRCm39)	S1253R	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fbxw26	T	C	9: 109,547,079 (GRCm39)	T449A	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Fry	T	C	5: 150,374,563 (GRCm39)	S2358P	possibly damaging	Het
Gas6	A	C	8: 13,520,344 (GRCm39)	L448R	probably damaging	Het
Hikeshi	T	C	7: 89,569,412 (GRCm39)		probably benign	Het
Ifngr1	C	T	10: 19,485,197 (GRCm39)	R399*	probably null	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Knl1	C	T	2: 118,933,030 (GRCm39)	T2063I	possibly damaging	Het
Lyzl6	A	G	11: 103,527,697 (GRCm39)	V9A	probably benign	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Myo9b	A	T	8: 71,786,412 (GRCm39)	R693W	probably damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,044,900 (GRCm39)	F247L	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Rpl21-ps6	T	C	17: 56,222,536 (GRCm39)		noncoding transcript	Het
Rtcb	A	T	10: 85,785,315 (GRCm39)		probably benign	Het
Sppl2a	T	A	2: 126,755,213 (GRCm39)		probably null	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Tnn	T	A	1: 159,932,498 (GRCm39)	T1075S	probably benign	Het
Traf3	T	A	12: 111,209,912 (GRCm39)	C169*	probably null	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Ulk3	C	A	9: 57,497,639 (GRCm39)	C4*	probably null	Het
Vmn1r73	A	T	7: 11,490,997 (GRCm39)	T272S	probably benign	Het
Vmn2r115	G	A	17: 23,565,252 (GRCm39)	E380K	probably benign	Het
Vmn2r3	T	A	3: 64,182,787 (GRCm39)	N304I	probably damaging	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	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
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
R0611:Efcab7	UTSW	4	99,758,886 (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'- GAGAATGAGGGATGCCACACTCAC -3'

Sequencing Primer
(F):5'- ggttcaagtcttagcacacac -3'
(R):5'- GGATGCCACACTCACCTCTG -3'

Posted On

2013-08-06