Mutagenetix > Incidental Mutation

Incidental Mutation 'R7760:Efcab5'

597806

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: 0.091) question?

Stock #

R7760 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77151926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 136 (E136D)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: E136D

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: E136D

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

0.0617

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	T	14: 25,872,827	Q162*	probably null	Het
Arg1	T	G	10: 24,927,463		probably benign	Het
Arl6	T	C	16: 59,618,806	D175G	probably damaging	Het
Capg	A	G	6: 72,557,786	R199G	probably damaging	Het
Ceacam1	T	A	7: 25,472,025	E338V	probably damaging	Het
Clec4d	A	G	6: 123,270,341	N148D	probably benign	Het
Ctr9	T	G	7: 111,046,601	I653R	probably damaging	Het
Dmwd	C	T	7: 19,080,735	L437F	probably damaging	Het
Dnah7b	T	A	1: 46,201,253	L1510Q	probably damaging	Het
Elfn2	C	T	15: 78,673,841	A169T	probably benign	Het
Esrp2	T	A	8: 106,133,470	E326D	probably benign	Het
Fbrs	T	C	7: 127,489,400	V718A	probably damaging	Het
Fbxl21	T	C	13: 56,526,934	S33P	probably benign	Het
Fbxl21	C	T	13: 56,537,003	R307C	probably benign	Het
Gatad2b	C	T	3: 90,354,469	R461W	probably damaging	Het
Gm19410	T	A	8: 35,802,337	C1109S	probably damaging	Het
Gm6882	T	A	7: 21,427,484	D153V	probably damaging	Het
Gm7075	T	C	10: 63,421,537	K68R	probably damaging	Het
Golga3	A	G	5: 110,205,850	E918G	probably benign	Het
Greb1	T	C	12: 16,723,416	N219S	probably benign	Het
Grpel1	G	T	5: 36,470,642	R89L	probably damaging	Het
Ighv5-12	T	A	12: 113,702,175	Q101L	probably benign	Het
Ikbkap	A	G	4: 56,790,892	V287A	probably benign	Het
Ldb3	T	A	14: 34,542,503	N590I	probably damaging	Het
Man2c1	T	C	9: 57,139,363	V636A	probably benign	Het
Mblac2	G	T	13: 81,711,877	V117L	probably benign	Het
Muc6	T	A	7: 141,651,057		probably null	Het
Nfatc3	A	G	8: 106,108,341	E773G	possibly damaging	Het
Ngef	T	C	1: 87,540,773	D88G	probably benign	Het
Nipbl	T	C	15: 8,358,702	E478G	probably damaging	Het
Olfr720	T	C	14: 14,175,905	Y59C	probably damaging	Het
Pbx4	C	A	8: 69,832,795	D29E	probably benign	Het
Pcdhgb5	A	G	18: 37,731,637	I162V	not run	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pigr	A	T	1: 130,846,631	R449S	possibly damaging	Het
Plcb2	T	C	2: 118,711,388	T914A	probably benign	Het
Ppp5c	A	G	7: 17,006,349	S387P	probably damaging	Het
Rtkn2	T	G	10: 68,005,609	S196A	probably damaging	Het
Sec31a	A	G	5: 100,392,628	F400L	probably damaging	Het
Senp7	A	T	16: 56,139,079	M251L	probably benign	Het
Slc6a5	T	C	7: 49,946,617	F612L	probably benign	Het
Slc7a9	T	C	7: 35,457,075	I314T	possibly damaging	Het
Smc5	A	C	19: 23,235,890	S553A	probably benign	Het
Spaca3	T	A	11: 80,864,563	V133D	probably damaging	Het
Taco1	T	A	11: 106,073,112	D232E	possibly damaging	Het
Tarbp1	C	T	8: 126,452,807	R664H	not run	Het
Tlk2	T	C	11: 105,279,167	I674T	probably damaging	Het
Tnxb	A	T	17: 34,712,937	E2148V	probably damaging	Het
Tom1l2	T	C	11: 60,274,965	S59G	probably benign	Het
Traj46	A	T	14: 54,172,356	H7L		Het
Traj46	T	G	14: 54,172,357	H7Q		Het
Trav6-4	T	A	14: 53,454,646	L70Q	possibly damaging	Het
Trmt1l	C	T	1: 151,442,674	T245I	possibly damaging	Het
Wac	T	A	18: 7,921,913	C601S	probably benign	Het
Wnt3	T	A	11: 103,811,440	H145Q	probably benign	Het
Zfp948	T	C	17: 21,588,366	C607R	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
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
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'- TGGTCAGTAGGCCACCATCATC -3'
(R):5'- AAGCACTGTGGTAAGCACAC -3'

Sequencing Primer
(F):5'- ACCATCATCAAACTCGATGTTTTCG -3'
(R):5'- CACAATGTGGAAACATTTTGCAGCTG -3'

Posted On

2019-11-26