Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Efcab5'

385962

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

042582-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77137252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 418 (S418P)

Ref Sequence

ENSEMBL: ENSMUSP00000118152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108400] [ENSMUST00000130901]

AlphaFold

A0JP43

Predicted Effect

probably damaging
Transcript: ENSMUST00000108400
AA Change: S554P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: S554P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130901
AA Change: S418P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: S418P

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
internal_repeat_1	114	216	1.89e-19	PROSPERO
internal_repeat_1	218	316	1.89e-19	PROSPERO
low complexity region	362	377	N/A	INTRINSIC
coiled coil region	613	640	N/A	INTRINSIC
GAF	741	930	1.78e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148985

Meta Mutation Damage Score

0.1050

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,742,710	G223E	probably damaging	Het
Abcb11	T	C	2: 69,323,892	N110S	probably benign	Het
Acaca	T	A	11: 84,263,295	H947Q	probably damaging	Het
Akap13	T	C	7: 75,730,528	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,151,234		noncoding transcript	Het
Arhgef4	A	T	1: 34,723,454	H597L	unknown	Het
Asgr2	A	G	11: 70,097,839	I119M	probably benign	Het
Casc3	T	G	11: 98,821,874		probably null	Het
Ccdc7b	T	A	8: 129,145,532	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,526,124	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,100,708	E476G	probably damaging	Het
Clec3a	T	A	8: 114,418,087	M1K	probably null	Het
Col9a1	T	C	1: 24,185,192	S152P	unknown	Het
Cpd	A	G	11: 76,814,830	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854	L95*	probably null	Het
Dhx57	T	C	17: 80,251,398	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Elp5	T	C	11: 69,979,842	D59G	probably benign	Het
Fam210a	G	A	18: 68,276,147	R31C	probably benign	Het
Farp1	A	G	14: 121,275,607	T792A	probably damaging	Het
Fmc1	A	T	6: 38,534,982	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368	L72M	probably benign	Het
Gm1758	A	T	16: 14,502,203		noncoding transcript	Het
Gm4553	G	A	7: 142,164,992		probably benign	Het
Gm5678	A	G	16: 93,629,996	T162A	probably benign	Het
Gpr156	A	G	16: 37,948,215	T33A	possibly damaging	Het
H2-Ke6	A	G	17: 34,027,288	F137S	probably damaging	Het
Hhat	A	T	1: 192,657,294		probably benign	Het
Hint2	T	C	4: 43,654,953	I59V	possibly damaging	Het
Hps4	C	T	5: 112,378,153		probably benign	Het
Klrc2	A	T	6: 129,656,463	C192S	probably benign	Het
Map1a	C	T	2: 121,303,050	T1211I	probably benign	Het
Mtus1	T	C	8: 41,084,541	N46S	probably benign	Het
Myo18a	T	C	11: 77,845,521		probably null	Het
Nbas	T	C	12: 13,408,265	S1258P	probably benign	Het
Ndst1	C	T	18: 60,702,933	G426D	probably damaging	Het
Nepro	A	G	16: 44,734,542	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,472,343	T322I	possibly damaging	Het
Olfr165	A	T	16: 19,407,110	M302K	probably benign	Het
Olfr347	T	C	2: 36,734,984	I221T	possibly damaging	Het
Olfr798	T	C	10: 129,626,061		probably null	Het
Olfr982	G	A	9: 40,074,665	M123I	probably damaging	Het
Pcdhb15	G	A	18: 37,475,802	A696T	probably damaging	Het
Polm	C	A	11: 5,837,618	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582	R27*	probably null	Het
Proser1	T	C	3: 53,479,625	I845T	probably damaging	Het
Rassf8	A	G	6: 145,817,144	N406D	possibly damaging	Het
Skint10	A	T	4: 112,728,872	C182*	probably null	Het
Slc6a19	C	T	13: 73,685,840	W366*	probably null	Het
St7	T	C	6: 17,934,226	F470L	probably damaging	Het
St8sia4	T	A	1: 95,591,797	Y322F	possibly damaging	Het
Trav8-2	A	T	14: 53,738,357		probably benign	Het
Vwa8	A	T	14: 79,198,283	H1811L	probably benign	Het
Zfp14	G	A	7: 30,038,057	T501I	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
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
R5922:Efcab5	UTSW	11	77188744	missense	probably benign	0.44
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
R9509:Efcab5	UTSW	11	77104151	missense	possibly damaging	0.94
R9562: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'- TGGAATCTCTGGGGACTTGC -3'
(R):5'- CACAGAGGGTCAATTTCAGAACC -3'

Sequencing Primer
(F):5'- CTCTTCGTTGATGAGCAGCAAAG -3'
(R):5'- GGTCAATTTCAGAACCTGGGC -3'

Posted On

2016-05-10