Mutagenetix > Incidental Mutations

Incidental Mutation 'R5694:Efcab5'

443835

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

043325-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77188875 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 15 (D15A)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: D15A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: D15A

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,600,947	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,395,718		probably benign	Het
Adamts14	A	T	10: 61,229,652	M356K	probably benign	Het
Adamtsl2	A	G	2: 27,081,724	H7R	probably benign	Het
Angptl2	T	C	2: 33,228,616	V134A	probably damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Astn2	T	C	4: 65,950,138	D488G	probably damaging	Het
Cat	A	T	2: 103,472,994	V146E	probably damaging	Het
Dmxl1	T	C	18: 49,894,257	V2144A	probably damaging	Het
Epha10	C	T	4: 124,902,653	A385V	unknown	Het
Erg	C	A	16: 95,361,031	E388D	probably benign	Het
Fam126a	C	A	5: 23,991,796	L31F	probably damaging	Het
Fbxo10	T	A	4: 45,035,970	I931F	probably damaging	Het
Frem1	A	G	4: 82,994,116	L673P	probably damaging	Het
Gm4922	A	C	10: 18,784,287	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,414,486	D153E	probably benign	Het
Htr7	T	C	19: 36,057,121	M45V	probably benign	Het
Igkv4-51	C	T	6: 69,681,927	V5M	probably damaging	Het
Ints7	G	A	1: 191,586,618	E156K	probably damaging	Het
Map3k21	A	G	8: 125,944,768	T932A	probably benign	Het
Mapk1	T	G	16: 17,018,469	D160E	probably benign	Het
Mast4	A	T	13: 102,774,193	Y479*	probably null	Het
Meig1	T	A	2: 3,411,962	K7N	probably damaging	Het
Mthfd1l	T	A	10: 4,035,239	D548E	possibly damaging	Het
Myo16	A	G	8: 10,569,606	R1386G	probably benign	Het
Nphs2	T	C	1: 156,326,037	S353P	probably benign	Het
Olfr533	T	C	7: 140,466,731	F177L	probably benign	Het
Olfr906	T	A	9: 38,488,236	I69K	probably damaging	Het
Pcdha9	G	T	18: 36,998,372	V165L	probably benign	Het
Pde3a	T	A	6: 141,250,502	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,125	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Rab44	T	C	17: 29,140,500	L554P	probably damaging	Het
Rab44	T	A	17: 29,145,966	M645K	unknown	Het
Rnf222	A	G	11: 68,892,897	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,918,941	S522P	probably benign	Het
Serinc5	A	G	13: 92,688,794	I244V	probably benign	Het
Serpinb10	A	T	1: 107,535,457		probably null	Het
Siglech	T	A	7: 55,768,656	F124Y	probably damaging	Het
Smarcc2	A	T	10: 128,484,127	I790L	probably benign	Het
Sos2	C	A	12: 69,590,915	R1007S	probably damaging	Het
Stk4	C	T	2: 164,100,564	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,184,964	L366H	probably damaging	Het
Tor4a	T	C	2: 25,194,920	T324A	probably benign	Het
Trim12a	C	A	7: 104,307,243	C30F	probably damaging	Het
Ttll3	G	A	6: 113,399,708	V350M	probably damaging	Het
Uggt1	A	T	1: 36,179,656	D63E	probably damaging	Het
Unc5b	G	A	10: 60,773,747	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Wls	A	C	3: 159,839,987	I16L	probably benign	Het
Zfp101	T	C	17: 33,380,945	I612M	probably benign	Het
Zfp677	C	A	17: 21,397,759	D359E	probably damaging	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
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
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'- GACCGTACCTGTTGTTGATCG -3'
(R):5'- AAGTACAGCTGCCGTGGAAG -3'

Sequencing Primer
(F):5'- ATCGTATCAGGGACATGAGTCTTCAG -3'
(R):5'- TACAGCTGCCGTGGAAGAAAAATC -3'

Posted On

2016-11-09