Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Efcab5'

706400

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: 0.107) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77113720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 924 (H924L)

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: H1060L

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

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: H1060L

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

possibly damaging
Transcript: ENSMUST00000130901
AA Change: H924L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: H924L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,580,633	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138	L19S	possibly damaging	Het
Arpp21	T	A	9: 112,157,697	D262V	probably damaging	Het
Atp4a	A	C	7: 30,715,782	I276L	probably benign	Het
Axl	C	G	7: 25,761,557	E676Q	probably damaging	Het
Ccdc151	T	C	9: 21,991,911	E402G	probably damaging	Het
Ces1g	T	C	8: 93,328,490	D193G	probably damaging	Het
Crym	A	G	7: 120,189,782	V274A	probably damaging	Het
Eif3l	T	A	15: 79,094,223	M560K	probably benign	Het
Fam160a1	T	C	3: 85,730,746	D82G	probably benign	Het
Fam234b	C	A	6: 135,225,795	Y382*	probably null	Het
Fam71b	A	T	11: 46,404,983	I61F		Het
Fbxw19	T	C	9: 109,484,372	K253E	possibly damaging	Het
Flt3	A	G	5: 147,376,980	S87P	probably benign	Het
Ggnbp2	A	G	11: 84,834,348	L627S	probably damaging	Het
Gm16486	C	T	8: 70,709,145	T329I	possibly damaging	Het
Gm26661	T	G	14: 7,791,765	V60G	unknown	Het
Gm5065	G	A	7: 5,359,528	V53I	possibly damaging	Het
Gm5662	T	A	12: 88,271,939	N17I	unknown	Het
Golt1a	T	C	1: 133,319,356	L34P	probably damaging	Het
Gp5	T	C	16: 30,308,990	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432	H385Q	possibly damaging	Het
Hcn1	G	A	13: 117,975,365	V622I	unknown	Het
Hipk4	A	G	7: 27,529,409	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,614,802	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,058,645	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,645,606	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,508,025		probably benign	Het
Ina	T	C	19: 47,015,377	L208P		Het
Irak2	T	C	6: 113,638,643		probably null	Het
Klhl10	G	A	11: 100,447,655	E407K	probably benign	Het
Krt81	A	G	15: 101,463,454	S82P	probably damaging	Het
Ktn1	C	A	14: 47,710,896	Q963K	probably benign	Het
Lrrc42	A	T	4: 107,247,716	Y17*	probably null	Het
Lrrc9	A	C	12: 72,449,397	E15D	probably damaging	Het
Mak	G	A	13: 41,049,363	T203I	probably benign	Het
Masp2	T	C	4: 148,608,028	V326A	possibly damaging	Het
Mdc1	T	C	17: 35,853,366	S1269P	probably benign	Het
Mink1	G	A	11: 70,611,651	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,375,978	S123*	probably null	Het
Myl10	C	T	5: 136,700,933	H142Y	probably damaging	Het
Ncan	T	C	8: 70,107,998	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,543,315	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,791,438	V99M	possibly damaging	Het
Olfr1184	C	T	2: 88,487,443	T237I	probably damaging	Het
Olfr143	A	G	9: 38,253,666	K80R	probably benign	Het
Olfr1434	A	G	19: 12,283,575	R176G	probably benign	Het
Phldb2	A	G	16: 45,775,074	V830A	probably damaging	Het
Phospho2	T	C	2: 69,795,569	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,944,823		probably benign	Het
Ppcdc	T	C	9: 57,434,997	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,460,725	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,398	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613	Y53*	probably null	Het
Slc12a3	T	G	8: 94,356,400		probably null	Het
Slc26a11	A	G	11: 119,376,904	T456A	probably benign	Het
Slc26a5	G	T	5: 21,813,336	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,880,653	T690A	probably benign	Het
Spata24	A	T	18: 35,657,011	N142K	probably damaging	Het
Ubqlnl	A	T	7: 104,149,755	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,075,329		probably null	Het
Vmn1r2	C	A	4: 3,172,678	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,027,685	N128S	probably damaging	Het
Vmn2r61	G	T	7: 42,267,195	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 18,822,649	F106L	probably benign	Het
Zfp503	A	T	14: 21,985,285	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,705,320	V1432A	probably benign	Het
Zfp981	T	A	4: 146,535,427	L13I	possibly 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
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
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'- CATCCAGCTGTGTTTGCCAC -3'
(R):5'- GCATAGCAGAATCTCAAAGAGTACC -3'

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

Posted On

2022-04-18