Mutagenetix > Incidental Mutation

Incidental Mutation 'R6769:Efcab5'

532095

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77105432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1101 (V1101A)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably damaging
Transcript: ENSMUST00000108400
AA Change: V1101A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: V1101A

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 benign
Transcript: ENSMUST00000130901

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944

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

Meta Mutation Damage Score

0.2378

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,461,461	H174Q	probably damaging	Het
Alox5	C	A	6: 116,415,184		probably null	Het
Amer3	C	A	1: 34,588,249	A523D	possibly damaging	Het
Apoa4	G	A	9: 46,243,167	M355I	probably benign	Het
Atp10b	T	C	11: 43,203,252		probably null	Het
Atp9a	A	T	2: 168,674,900	Y340N	probably damaging	Het
C1rb	T	G	6: 124,577,405	S382A	probably benign	Het
Csmd1	A	G	8: 16,071,394	V1763A	possibly damaging	Het
Ctnnd1	C	A	2: 84,619,925	R317L	probably damaging	Het
Ctnnd1	A	T	2: 84,620,110	D255E	probably damaging	Het
Dmxl2	A	T	9: 54,416,524	I1192N	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam129b	C	T	2: 32,895,654			Het
Fam69b	A	G	2: 26,634,863	R92G	probably benign	Het
Flg	T	C	3: 93,288,323		probably benign	Het
Fras1	A	G	5: 96,598,941	I623M	possibly damaging	Het
Gm7361	T	A	5: 26,257,769	L3*	probably null	Het
Gpr35	T	A	1: 92,982,704	M46K	probably damaging	Het
Ighv2-9	A	T	12: 113,879,310	F46I	possibly damaging	Het
Kdm4b	C	T	17: 56,351,754	A33V	possibly damaging	Het
Klhl5	T	A	5: 65,164,652	Y534N	probably damaging	Het
Mccc1	C	T	3: 35,989,843		probably null	Het
Memo1	A	T	17: 74,201,278	F270L	probably damaging	Het
Mnat1	A	G	12: 73,272,422	N273S	probably benign	Het
Nxpe3	C	A	16: 55,866,108	G179V	probably damaging	Het
Olfr1477	T	A	19: 13,502,954	F204I	possibly damaging	Het
Otp	A	G	13: 94,875,786	D6G	probably damaging	Het
Prdm5	T	A	6: 65,862,936	I265K	probably damaging	Het
Ptpn4	T	A	1: 119,715,968	N350I	probably benign	Het
Rassf10	A	G	7: 112,954,428	M79V	probably benign	Het
Rassf4	T	A	6: 116,641,472	D215V	possibly damaging	Het
Rbm12	A	T	2: 156,097,455	I299N	possibly damaging	Het
Scfd2	T	C	5: 74,531,456	H55R	probably benign	Het
Scn8a	A	G	15: 101,035,564	N1550D	probably benign	Het
Skiv2l	G	A	17: 34,845,190	R507*	probably null	Het
Slc30a5	A	C	13: 100,813,860	S240A	probably benign	Het
Slc7a4	A	G	16: 17,575,320	V205A	possibly damaging	Het
Syde2	G	A	3: 145,999,048	G318E	probably damaging	Het
Ttn	T	A	2: 76,708,539	D34649V	possibly damaging	Het
Vmn2r83	T	A	10: 79,478,022	S155T	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
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
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
R9651:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9748:Efcab5	UTSW	11	77116196	nonsense	probably null
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'- AGTGTATGTAGCAACTAGGGC -3'
(R):5'- GGGGATATGGTTCTTTTAATGACCCAG -3'

Sequencing Primer
(F):5'- CTAGGGCAGAAGTGTCTTCAC -3'
(R):5'- AAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2018-08-29