Mutagenetix > Incidental Mutation

Incidental Mutation 'R7369:Efcab5'

572019

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 #

R7369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77117835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 819 (P819L)

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: P955L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: P955L

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: P819L

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: P819L

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,331,533	Q11L	possibly damaging	Het
A930017K11Rik	G	A	17: 25,947,960	S201L	probably damaging	Het
Ahr	A	T	12: 35,504,660	W487R	possibly damaging	Het
Apaf1	A	G	10: 91,001,036	S1060P	probably damaging	Het
Atf7	G	T	15: 102,553,809	P126H	probably damaging	Het
B3gnt5	C	A	16: 19,769,660	Q210K	probably benign	Het
Begain	T	C	12: 109,033,927	Y306C	possibly damaging	Het
Car5a	T	C	8: 121,923,834	K157R	probably benign	Het
Car5b	A	C	X: 164,014,840	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,638	V478A	probably damaging	Het
Cdyl	A	G	13: 35,816,009	E91G	probably damaging	Het
Cep135	A	C	5: 76,593,253	K59Q	possibly damaging	Het
Cnot3	T	A	7: 3,653,331	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,921,622	G379R	probably damaging	Het
Dppa1	T	A	11: 46,616,117		probably null	Het
Dsp	G	T	13: 38,197,525	V2749F	possibly damaging	Het
E2f4	A	G	8: 105,300,334	K177E	probably benign	Het
Ercc5	T	A	1: 44,180,860	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183	N162S	probably benign	Het
Evl	A	G	12: 108,686,565	Y423C	unknown	Het
Fam78a	T	A	2: 32,069,687	N137I	probably damaging	Het
Fcrla	T	G	1: 170,922,317	D57A	probably benign	Het
Fcrls	T	C	3: 87,256,701	N374D	possibly damaging	Het
Gm7145	A	T	1: 117,986,108	H240L	probably benign	Het
Kdm5a	T	A	6: 120,432,004	N1549K	possibly damaging	Het
Kirrel	C	T	3: 87,141,084	R9H	probably benign	Het
Klf7	T	C	1: 64,121,141		probably null	Het
Lce1d	G	A	3: 92,686,083	Q8*	probably null	Het
Lcn4	T	C	2: 26,667,894	H180R	probably benign	Het
Lmntd1	T	A	6: 145,413,575	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,282,039	R1646K		Het
Map3k21	C	A	8: 125,911,116	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,454,251	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375	F5518L	probably damaging	Het
Mfsd7a	A	G	5: 108,445,528	V148A	probably benign	Het
Msh3	T	A	13: 92,299,262	T510S	probably benign	Het
Myh1	A	T	11: 67,220,698	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 73,077,921	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,821,846	S70P	probably damaging	Het
Nmi	T	C	2: 51,950,084	D215G	possibly damaging	Het
Nphp3	T	C	9: 104,018,250	S496P	probably damaging	Het
Nrp1	T	A	8: 128,431,915	C228S	probably damaging	Het
Olfr787	A	T	10: 129,463,521	M282L	probably benign	Het
Pcdh9	C	A	14: 93,886,367	R789L	possibly damaging	Het
Pigr	A	T	1: 130,841,766	T105S	probably benign	Het
Polr2a	A	C	11: 69,745,977	S383A	probably benign	Het
Psd3	T	A	8: 67,904,166	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,292,306		probably benign	Het
Ptk6	A	G	2: 181,198,461	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,430,468	T1251A		Het
Rtkn2	A	G	10: 68,041,429	K443E	probably damaging	Het
Rundc3a	T	A	11: 102,399,895	L268Q	probably damaging	Het
Serpinb5	A	G	1: 106,875,149	E138G	probably benign	Het
Shroom1	A	T	11: 53,465,248	D375V	probably benign	Het
Siglecf	A	G	7: 43,351,817	T70A	probably damaging	Het
Slc20a2	A	T	8: 22,561,400	E483V	probably benign	Het
Sort1	G	A	3: 108,351,680	G676D	probably damaging	Het
Spef2	T	C	15: 9,584,207	S1581G	probably benign	Het
Stx6	C	T	1: 155,197,384	R214*	probably null	Het
Stxbp5l	A	G	16: 37,134,341	I950T	probably benign	Het
Tdrd7	T	A	4: 46,013,239	C660S	possibly damaging	Het
Tgm4	T	A	9: 123,056,684		probably null	Het
Thap8	C	T	7: 30,289,952	L196F	unknown	Het
Tmem67	T	C	4: 12,053,535	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,672,931		probably null	Het
Uba2	A	G	7: 34,150,814	S405P	possibly damaging	Het
Usp34	T	C	11: 23,432,361	I2043T		Het
Vmn1r12	T	A	6: 57,159,698	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,660,605	T305I	unknown	Het
Vmn2r24	T	C	6: 123,815,679	V655A	probably damaging	Het
Wdr33	T	C	18: 31,886,666	S464P	probably benign	Het
Zcchc6	A	G	13: 59,782,053	I1458T	possibly damaging	Het
Zfp260	T	A	7: 30,105,325	C217S	probably damaging	Het
Zfp760	A	G	17: 21,723,233	E463G	probably benign	Het
Zhx1	A	G	15: 58,053,300	Y517H	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
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'- ATGCCAACTTACTTCAGAAGGC -3'
(R):5'- CGAAGCTGGTGACAAATACATG -3'

Sequencing Primer
(F):5'- CATGGTGGGACATACCTGTAACC -3'
(R):5'- CTGGTGACAAATACATGGTCAAAAG -3'

Posted On

2019-09-13