Mutagenetix > Incidental Mutations

Incidental Mutation 'R2305:Efcab7'

244548

Institutional Source

Beutler Lab

Gene Symbol

Efcab7

Ensembl Gene

ENSMUSG00000073791

Gene Name

EF-hand calcium binding domain 7

Synonyms

MMRRC Submission

040304-MU

Accession Numbers

Genbank: NM_145549; MGI: 2385199

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99829198-99912788 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99831481 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 67 (T67A)

Ref Sequence

ENSEMBL: ENSMUSP00000138530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097959] [ENSMUST00000106994] [ENSMUST00000124547] [ENSMUST00000143994] [ENSMUST00000146258]

Predicted Effect

unknown
Transcript: ENSMUST00000097959
AA Change: T30A

SMART Domains

Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: T30A

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: ENSMUST00000102786

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106994
AA Change: T30A

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123830

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124547
AA Change: T30A

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143994
AA Change: T67A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000146258

SMART Domains

Protein: ENSMUSP00000117153
Gene: ENSMUSG00000028549

Domain	Start	End	E-Value	Type
Pfam:CENP-R	25	162	1e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146739

Meta Mutation Damage Score

0.0653

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (32/32)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	C	A	2: 58,281,699	D295Y	probably damaging	Het
Adamts7	A	G	9: 90,180,711	D406G	probably benign	Het
Ankhd1	T	C	18: 36,642,926	S1443P	possibly damaging	Het
Casp8ap2	A	T	4: 32,646,411	K1828I	probably damaging	Het
Ccdc105	T	C	10: 78,748,502	T360A	probably damaging	Het
Cep135	T	C	5: 76,595,389		probably benign	Het
Cyp3a57	A	G	5: 145,381,280	D357G	probably damaging	Het
Defb21	T	A	2: 152,574,871	L89Q	possibly damaging	Het
Dnah5	A	T	15: 28,387,767	E3124V	probably benign	Het
Exo1	C	T	1: 175,888,761	P148L	probably damaging	Het
Hps4	A	G	5: 112,346,661	I37V	probably damaging	Het
Krt9	T	A	11: 100,193,116	M30L	unknown	Het
Med25	C	A	7: 44,885,890	R37L	possibly damaging	Het
Olfr1335	T	G	4: 118,808,861	Q318H	probably benign	Het
Olfr1436	T	C	19: 12,299,087	E15G	probably benign	Het
Phf3	G	A	1: 30,805,475	Q1468*	probably null	Het
Phkb	A	G	8: 86,043,802	K900R	possibly damaging	Het
Pirb	G	A	7: 3,712,991	H755Y	probably benign	Het
Polq	A	T	16: 37,062,337	N1342I	probably damaging	Het
Polr2b	T	A	5: 77,320,437		probably benign	Het
Pus1	C	A	5: 110,774,960	M232I	probably benign	Het
Serpina3a	C	A	12: 104,116,528	Q187K	probably benign	Het
Slit1	G	A	19: 41,611,016	P1032L	probably benign	Het
Syne1	C	T	10: 5,047,573	E465K	probably damaging	Het
Tlk2	T	G	11: 105,241,591	I217R	possibly damaging	Het
Tlr4	A	G	4: 66,840,101	D377G	probably damaging	Het
Tmtc1	T	C	6: 148,244,697	D866G	probably damaging	Het
Tubd1	T	A	11: 86,555,191	I219N	probably benign	Het
Ugt3a2	C	A	15: 9,351,117	P71T	probably benign	Het
Vmn1r64	A	G	7: 5,884,536	S3P	probably benign	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
R2358:Efcab7	UTSW	4	99831586	unclassified	probably benign
R2845:Efcab7	UTSW	4	99909638	missense	probably damaging	0.99
R3915:Efcab7	UTSW	4	99878173	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- ACCCCATGGTGGCACATTTG -3'
(R):5'- CCAACTCATAAGCAGTAACTGATG -3'

Sequencing Primer
(F):5'- GCATTTTAGGTGATTTACATCGACG -3'
(R):5'- GAATACACAATCCTCTCTCTGTGTAC -3'

Posted On

2014-10-30