Mutagenetix > Incidental Mutations

Incidental Mutation 'R5922:Efcab5'

461640

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

043240-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77188744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108400]

AlphaFold

A0JP43

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: T59A

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: T59A

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
internal_repeat_1	250	352	2.42e-20	PROSPERO
internal_repeat_1	354	452	2.42e-20	PROSPERO
low complexity region	498	513	N/A	INTRINSIC
coiled coil region	749	776	N/A	INTRINSIC
GAF	877	1066	1.78e-2	SMART
low complexity region	1235	1245	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atr	A	G	9: 95,903,682	D1429G	probably benign	Het
Brinp2	A	T	1: 158,249,355	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,986,093	S66G	probably damaging	Het
Dnal1	C	A	12: 84,126,972	L55M	probably damaging	Het
Dus2	G	A	8: 106,053,405	R453Q	possibly damaging	Het
Elmo1	A	G	13: 20,605,169	D685G	probably damaging	Het
Ern1	T	C	11: 106,421,730	E275G	probably damaging	Het
Etnk2	A	G	1: 133,363,885		probably null	Het
Fign	T	C	2: 63,979,060	D622G	probably damaging	Het
Gjb2	A	G	14: 57,100,298	M151T	probably benign	Het
Heatr9	C	T	11: 83,512,367		probably null	Het
Herpud2	G	A	9: 25,108,984	L359F	probably benign	Het
Hpx	C	T	7: 105,595,624	R118H	probably damaging	Het
Hyal2	A	G	9: 107,570,907	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,791,222	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,520,379	I14N	possibly damaging	Het
Myb	T	A	10: 21,152,927	I91F	probably damaging	Het
Myh6	C	T	14: 54,946,474	D1668N	probably damaging	Het
Noc2l	C	T	4: 156,241,313	Q182*	probably null	Het
Nsd1	A	G	13: 55,247,475	N1066S	probably benign	Het
Nup98	A	G	7: 102,154,017	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,249,314	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,366,237	A154S	probably benign	Het
Pdlim7	G	T	13: 55,508,955	T62K	probably damaging	Het
Pibf1	A	G	14: 99,137,088	D321G	probably benign	Het
Plrg1	T	A	3: 83,056,848	N29K	possibly damaging	Het
Scimp	A	C	11: 70,800,816		probably null	Het
Sec16a	T	C	2: 26,415,639	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,874,323	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,266,507	K224E	probably benign	Het
Spz1	A	T	13: 92,575,598	D123E	possibly damaging	Het
St14	A	T	9: 31,129,904		probably benign	Het
Ush1c	A	T	7: 46,204,128		probably null	Het
Usp54	T	C	14: 20,552,071		probably null	Het
Zfhx3	C	T	8: 108,946,698	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,041,604	N286K	probably benign	Het

Other mutations in Efcab5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Efcab5	APN	11	77137036	missense	probably benign	0.04
IGL01343:Efcab5	APN	11	77129930	missense	probably damaging	1.00
IGL02190:Efcab5	APN	11	77121314	missense	probably benign	0.38
IGL02270:Efcab5	APN	11	77104313	missense	probably damaging	0.97
IGL02572:Efcab5	APN	11	77137888	nonsense	probably null
IGL02653:Efcab5	APN	11	77132022	missense	probably damaging	0.99
IGL02818:Efcab5	APN	11	77105348	missense	probably damaging	0.99
IGL03068:Efcab5	APN	11	77104101	missense	probably benign
IGL03222:Efcab5	APN	11	77137367	missense	probably benign	0.40
IGL03226:Efcab5	APN	11	77137675	missense	possibly damaging	0.92
IGL03257:Efcab5	APN	11	77188770	missense	probably damaging	0.99
PIT4131001:Efcab5	UTSW	11	77137691
PIT4418001:Efcab5	UTSW	11	77132051	missense	possibly damaging	0.89
R0276:Efcab5	UTSW	11	77129876	missense	probably damaging	1.00
R0276:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0277:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0284:Efcab5	UTSW	11	77103527	intron	probably benign
R0386:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0386:Efcab5	UTSW	11	77172378	missense	probably benign	0.30
R0966:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0968:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R1433:Efcab5	UTSW	11	77105378	missense	probably benign	0.09
R1673:Efcab5	UTSW	11	77151853	missense	probably damaging	0.99
R1842:Efcab5	UTSW	11	77134875	missense	probably benign	0.00
R1848:Efcab5	UTSW	11	77103306	missense	probably damaging	1.00
R2069:Efcab5	UTSW	11	77172321	missense	probably benign	0.06
R3713:Efcab5	UTSW	11	77116182	missense	probably damaging	1.00
R4012:Efcab5	UTSW	11	77117830	missense	probably damaging	0.98
R4020:Efcab5	UTSW	11	77104104	missense	probably benign	0.33
R4391:Efcab5	UTSW	11	77090458	missense	probably damaging	0.99
R4392:Efcab5	UTSW	11	77090458	missense	probably damaging	0.99
R4692:Efcab5	UTSW	11	77113681	missense	probably damaging	1.00
R4929:Efcab5	UTSW	11	77103383	missense	probably benign	0.36
R4985:Efcab5	UTSW	11	77138229	missense	probably damaging	0.98
R4988:Efcab5	UTSW	11	77137252	missense	probably damaging	1.00
R5246:Efcab5	UTSW	11	77188845	missense	probably damaging	1.00
R5260:Efcab5	UTSW	11	77137651	missense	possibly damaging	0.92
R5387:Efcab5	UTSW	11	77134842	missense	possibly damaging	0.93
R5516:Efcab5	UTSW	11	77188789	missense	possibly damaging	0.62
R5535:Efcab5	UTSW	11	77151921	missense	probably damaging	1.00
R5694:Efcab5	UTSW	11	77188875	missense	probably benign	0.09
R6030:Efcab5	UTSW	11	77121262	missense	probably damaging	1.00
R6030:Efcab5	UTSW	11	77121262	missense	probably damaging	1.00
R6183:Efcab5	UTSW	11	77137258	missense	probably benign	0.04
R6437:Efcab5	UTSW	11	77137902	missense	probably benign	0.25
R6442:Efcab5	UTSW	11	77105434	nonsense	probably null
R6592:Efcab5	UTSW	11	77113610	missense	possibly damaging	0.90
R6769:Efcab5	UTSW	11	77105432	missense	probably damaging	0.98
R7257:Efcab5	UTSW	11	77137779	missense	probably damaging	0.99
R7285:Efcab5	UTSW	11	77137344	missense	probably benign
R7285:Efcab5	UTSW	11	77138215	missense	possibly damaging	0.49
R7350:Efcab5	UTSW	11	77137561	missense	probably benign	0.05
R7369:Efcab5	UTSW	11	77117835	missense	possibly damaging	0.60
R7760:Efcab5	UTSW	11	77151926	missense	probably benign	0.31
R8213:Efcab5	UTSW	11	77116071	missense	probably damaging	1.00
R8690:Efcab5	UTSW	11	77103289	missense	probably damaging	0.98
R9294:Efcab5	UTSW	11	77121238	missense	probably benign	0.03
R9310:Efcab5	UTSW	11	77113705	missense	probably benign	0.23
R9324:Efcab5	UTSW	11	77113720	missense	possibly damaging	0.95
R9404:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9405:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9407:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
X0061:Efcab5	UTSW	11	77116234	missense	probably damaging	1.00
Z1176:Efcab5	UTSW	11	77132139	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTTCTCAAGTGCCAGGATCAC -3'
(R):5'- TTCCCGGAGTGGAGCAAATG -3'

Sequencing Primer
(F):5'- TCAAGTGCCAGGATCACCAGTG -3'
(R):5'- TGCTGATGCAGGTGGAGAAG -3'

Posted On

2017-02-28