Mutagenetix > Incidental Mutations

Incidental Mutation 'R4692:Efcab5'

354984

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

041943-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77113681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 937 (I937N)

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: I1073N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: I1073N

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: I937N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: I937N

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,973,886	Y230*	probably null	Het
9230104M06Rik	A	T	12: 113,000,072		probably benign	Het
Arhgap20	A	G	9: 51,785,788	D53G	probably damaging	Het
Arl2	T	C	19: 6,137,746	T54A	probably damaging	Het
Baz2a	G	A	10: 128,124,893	G1521S	probably damaging	Het
Begain	A	G	12: 109,033,892	S523P	probably damaging	Het
Car10	T	C	11: 93,185,158		probably null	Het
Cenpe	A	G	3: 135,216,379	I66V	probably benign	Het
Col14a1	T	A	15: 55,423,468	V895E	unknown	Het
Coro1b	T	C	19: 4,149,419	Y26H	probably damaging	Het
Crebbp	T	C	16: 4,114,863	E1017G	possibly damaging	Het
Cwf19l2	T	C	9: 3,428,709	S232P	probably damaging	Het
Cyp7b1	T	A	3: 18,072,564	I473F	probably damaging	Het
D430042O09Rik	T	C	7: 125,867,669		probably null	Het
Fam53c	A	C	18: 34,768,690	E220A	probably damaging	Het
Gsn	A	G	2: 35,298,871	Y434C	probably damaging	Het
Igkv2-137	T	C	6: 67,555,987	S45P	possibly damaging	Het
Kif13b	C	A	14: 64,803,575	T1704K	probably benign	Het
Mapk7	A	G	11: 61,489,242	S697P	possibly damaging	Het
Mrgpra1	T	A	7: 47,335,698	I78F	probably damaging	Het
N6amt1	T	C	16: 87,356,966	V97A	possibly damaging	Het
Oas3	T	C	5: 120,769,355	T406A	probably benign	Het
Olfr1314	A	G	2: 112,092,681	S7P	probably damaging	Het
Olfr895	C	T	9: 38,268,530	Q6*	probably null	Het
Paxip1	T	C	5: 27,772,097		probably benign	Het
Pfn4	A	T	12: 4,774,486	Y71F	probably damaging	Het
Plin4	C	A	17: 56,103,762	G1090C	probably damaging	Het
Ptk2b	C	T	14: 66,157,069	G859S	probably benign	Het
Rbl2	T	A	8: 91,122,419	D1084E	probably damaging	Het
Robo1	T	G	16: 72,960,202	S350R	probably damaging	Het
Sbno2	A	G	10: 80,086,327	V4A	possibly damaging	Het
Sh3rf1	T	C	8: 61,353,854		probably null	Het
Smgc	T	C	15: 91,854,561	V474A	possibly damaging	Het
Snx13	A	G	12: 35,086,918	D126G	possibly damaging	Het
Sox9	C	A	11: 112,782,977	H131Q	probably benign	Het
Spag6	T	C	2: 18,699,243	I34T	probably benign	Het
Speer2	T	A	16: 69,857,972	T202S	possibly damaging	Het
Sspo	T	A	6: 48,482,687	C3327S	probably damaging	Het
Vcpip1	G	T	1: 9,748,074	A28E	unknown	Het
Vstm5	A	T	9: 15,257,422	D94V	probably damaging	Het
Zfp329	T	C	7: 12,810,632	K322E	probably damaging	Het
Zfp932	G	A	5: 110,009,186	G250D	probably damaging	Het
Zscan26	A	G	13: 21,445,257	C359R	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
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
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'- ATCCAGCTGTGTTTGCCAC -3'
(R):5'- GCATAGCAGAATCTCAAAGAGTACC -3'

Sequencing Primer
(F):5'- ATGCTAGCAAGTGATCTGCC -3'
(R):5'- GTACCTCTTGGAGAACTGATTTTAAC -3'

Posted On

2015-10-21