Mutagenetix > Incidental Mutation

Incidental Mutation 'R6717:Efcab7'

529421

Institutional Source

Beutler Lab

Gene Symbol

Efcab7

Ensembl Gene

ENSMUSG00000073791

Gene Name

EF-hand calcium binding domain 7

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_145549; MGI: 2385199

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99829198-99912788 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99904734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 407 (D407G)

Ref Sequence

ENSEMBL: ENSMUSP00000095572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097959] [ENSMUST00000136874]

AlphaFold

Q8VDY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097959
AA Change: D407G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: D407G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136874

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,064,086	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,753,650		probably null	Het
Ccdc178	A	T	18: 22,020,889	V621E	probably damaging	Het
Cfap126	T	C	1: 171,114,102		probably null	Het
Cog2	T	C	8: 124,525,749	I64T	probably damaging	Het
Dhx9	A	C	1: 153,473,464		probably null	Het
Eif2b5	G	T	16: 20,505,283	G459C	probably damaging	Het
Eml5	T	C	12: 98,827,506	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,902		probably benign	Het
Fry	A	G	5: 150,496,312	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,437,520	L244*	probably null	Het
Gm13119	G	T	4: 144,362,657	V182L	probably benign	Het
Gprc6a	T	A	10: 51,615,137	I768F	probably damaging	Het
Grk1	G	A	8: 13,416,237	M560I	probably benign	Het
Hapln4	G	A	8: 70,085,090	E145K	probably damaging	Het
Hoxd9	C	T	2: 74,698,389	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,085,574	M1L	probably benign	Het
Mast1	T	C	8: 84,917,754	T849A	probably benign	Het
Mob4	A	T	1: 55,136,713	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,781,523	L81Q	probably damaging	Het
Mst1	T	C	9: 108,080,575		probably null	Het
Muc5b	A	T	7: 141,857,822	R1502*	probably null	Het
Olfr1020	T	A	2: 85,850,223	I257N	probably damaging	Het
Olfr142	T	A	2: 90,252,524	I155L	probably benign	Het
Olfr311	T	C	11: 58,841,287	Y58H	probably damaging	Het
Pdc	A	G	1: 150,333,018	D84G	probably damaging	Het
Peak1	T	C	9: 56,207,239	N443D	probably benign	Het
Pkd1l3	T	A	8: 109,614,769	W85R	unknown	Het
Rfc1	G	A	5: 65,302,004	Q190*	probably null	Het
Rfc1	A	G	5: 65,312,961	S68P	probably damaging	Het
Rnf145	T	C	11: 44,561,490	V432A	probably benign	Het
Ror2	A	G	13: 53,118,982	S204P	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Slc2a8	A	C	2: 32,976,177	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,354,423	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,354,303	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stk33	T	A	7: 109,327,616	T279S	possibly damaging	Het
Taok3	A	G	5: 117,240,950		probably benign	Het
Tlr11	A	G	14: 50,362,104	T516A	probably benign	Het
Tmem132c	T	A	5: 127,564,029	L1088Q	possibly damaging	Het
Tmem132d	T	A	5: 127,784,421	M879L	probably benign	Het
Tnk2	A	G	16: 32,670,869	E322G	probably damaging	Het
Ttc28	T	C	5: 111,285,436	V2081A	probably benign	Het
Ttn	C	T	2: 76,794,409		probably null	Het
Zfp105	T	C	9: 122,930,308	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,915,409	R562G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATGTCCTATGATGGTGTCTG -3'
(R):5'- TCCAGGGACTTGAGTGTCTAG -3'

Sequencing Primer
(F):5'- TGTTGAGCTGTGGGAAGTTAGAAAG -3'
(R):5'- TGAGTGTCTAGATTTAAAAAGTCCTG -3'

Posted On

2018-08-01