Mutagenetix > Incidental Mutation

Incidental Mutation 'R3915:Efcab7'

309586

Institutional Source

Beutler Lab

Gene Symbol

Efcab7

Ensembl Gene

ENSMUSG00000073791

Gene Name

EF-hand calcium binding domain 7

Synonyms

MMRRC Submission

040913-MU

Accession Numbers

Genbank: NM_145549; MGI: 2385199

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99829198-99912788 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99878173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 133 (Q133L)

Ref Sequence

ENSEMBL: ENSMUSP00000095572 (fasta)

Gene Model

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

AlphaFold

Q8VDY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000097959
AA Change: Q133L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: Q133L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (43/44)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	G	A	5: 3,577,248	V75I	possibly damaging	Het
AA986860	A	G	1: 130,742,607	K189E	probably benign	Het
Abcf1	C	T	17: 35,959,510	R596H	possibly damaging	Het
Axl	T	C	7: 25,760,744		probably benign	Het
Birc6	A	G	17: 74,579,608	K644E	probably benign	Het
Btbd11	C	A	10: 85,632,270	H810N	probably damaging	Het
Btnl7-ps	T	A	17: 34,541,515		noncoding transcript	Het
Car8	A	T	4: 8,184,576		probably benign	Het
Ccdc62	C	T	5: 123,954,715	R588C	probably damaging	Het
Clasp2	T	G	9: 113,908,737	S374A	probably damaging	Het
Ctnnb1	A	G	9: 120,955,651	H503R	probably benign	Het
Cwf19l2	A	G	9: 3,456,776	H703R	probably damaging	Het
Ehmt2	T	C	17: 34,903,467	S280P	probably damaging	Het
Eomes	A	G	9: 118,481,273	M351V	probably benign	Het
Ets2	G	A	16: 95,718,993	R421H	probably damaging	Het
Fam222b	C	G	11: 78,154,930	P439R	probably benign	Het
Gbp11	T	A	5: 105,331,112	K153N	probably damaging	Het
Gm8989	A	G	7: 106,330,238	S151P	probably benign	Het
Gm8994	A	T	6: 136,329,422	T294S	probably benign	Het
Golim4	T	C	3: 75,903,327	T174A	probably damaging	Het
Grid1	A	G	14: 35,520,727	Y679C	probably damaging	Het
Ikzf3	T	C	11: 98,490,586	D56G	probably damaging	Het
Kcnj16	A	G	11: 111,025,556	D348G	probably benign	Het
Kidins220	T	C	12: 25,053,958	L1319P	possibly damaging	Het
Lrp1b	T	A	2: 41,449,236	D751V	probably damaging	Het
Macc1	T	C	12: 119,446,816	C440R	probably benign	Het
Mbd2	T	C	18: 70,622,609	V382A	probably benign	Het
Olfr45	T	A	7: 140,690,975	D23E	probably benign	Het
Olfr559	C	T	7: 102,724,202	R96H	possibly damaging	Het
Olfr780	G	A	10: 129,322,309	A229T	probably benign	Het
Pgs1	T	G	11: 118,019,646	S528A	probably benign	Het
Pitpnm3	T	C	11: 72,112,284	T67A	probably damaging	Het
Pnliprp2	T	G	19: 58,760,362	V33G	probably damaging	Het
Ptn	T	C	6: 36,743,347	N90S	probably damaging	Het
Ptprt	A	T	2: 161,555,555		probably benign	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Rasgrp1	G	A	2: 117,288,641	S505F	probably damaging	Het
Sesn1	G	A	10: 41,894,890	R139H	probably benign	Het
Slc17a7	T	A	7: 45,168,720	L23Q	probably damaging	Het
Slc30a10	G	T	1: 185,455,136	E25*	probably null	Het
Smco1	A	G	16: 32,273,765	I85V	probably benign	Het
Vmn1r76	A	T	7: 11,930,569	S239R	probably benign	Het
Zc3h7a	A	T	16: 11,156,210	V237D	possibly damaging	Het

Other mutations in Efcab7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Efcab7	APN	4	99831463	missense	probably benign	0.12
3-1:Efcab7	UTSW	4	99901769	missense	possibly damaging	0.83
R0023:Efcab7	UTSW	4	99901637	splice site	probably benign
R0085:Efcab7	UTSW	4	99904680	unclassified	probably benign
R0122:Efcab7	UTSW	4	99892363	splice site	probably benign
R0326:Efcab7	UTSW	4	99831394	missense	possibly damaging	0.86
R0382:Efcab7	UTSW	4	99901769	missense	possibly damaging	0.83
R0410:Efcab7	UTSW	4	99878285	critical splice donor site	probably null
R0413:Efcab7	UTSW	4	99909746	missense	probably damaging	1.00
R0611:Efcab7	UTSW	4	99901689	missense	probably damaging	1.00
R0689:Efcab7	UTSW	4	99904784	missense	probably damaging	1.00
R1114:Efcab7	UTSW	4	99878250	nonsense	probably null
R1459:Efcab7	UTSW	4	99912547	missense	probably null	1.00
R1722:Efcab7	UTSW	4	99900618	missense	probably benign	0.36
R1932:Efcab7	UTSW	4	99911018	missense	probably damaging	1.00
R1954:Efcab7	UTSW	4	99900690	missense	probably damaging	1.00
R2305:Efcab7	UTSW	4	99831481	missense	possibly damaging	0.95
R2358:Efcab7	UTSW	4	99831586	unclassified	probably benign
R2845:Efcab7	UTSW	4	99909638	missense	probably damaging	0.99
R4469:Efcab7	UTSW	4	99909704	missense	possibly damaging	0.73
R4686:Efcab7	UTSW	4	99878116	missense	probably benign	0.29
R4737:Efcab7	UTSW	4	99831568	nonsense	probably null
R4970:Efcab7	UTSW	4	99831543	missense	probably damaging	1.00
R5120:Efcab7	UTSW	4	99897491	missense	probably damaging	1.00
R5264:Efcab7	UTSW	4	99878170	missense	probably benign	0.27
R5366:Efcab7	UTSW	4	99904734	missense	possibly damaging	0.95
R5901:Efcab7	UTSW	4	99909744	missense	probably damaging	0.99
R6255:Efcab7	UTSW	4	99829390	unclassified	probably benign
R6438:Efcab7	UTSW	4	99909772	missense	probably benign	0.39
R6451:Efcab7	UTSW	4	99831501	nonsense	probably null
R6717:Efcab7	UTSW	4	99904734	missense	possibly damaging	0.95
R6766:Efcab7	UTSW	4	99877959	frame shift	probably null
R6855:Efcab7	UTSW	4	99900580	nonsense	probably null
R6865:Efcab7	UTSW	4	99912596	missense	probably damaging	1.00
R7868:Efcab7	UTSW	4	99888957	missense	probably benign	0.01
R7893:Efcab7	UTSW	4	99888861	missense	probably damaging	1.00
R8069:Efcab7	UTSW	4	99829378	missense	unknown
R8787:Efcab7	UTSW	4	99900594	missense	probably null	0.99
R9214:Efcab7	UTSW	4	99878235	missense	probably damaging	1.00
R9649:Efcab7	UTSW	4	99904705	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTGTTTCAGCACGAGCCTC -3'
(R):5'- CAGTGACCTTATTGTTGATAACCTGAG -3'

Sequencing Primer
(F):5'- AGCACGAGCCTCCTCCTTG -3'
(R):5'- TTGTTGATAACCTGAGATGAAAGGAC -3'

Posted On

2015-04-17