Mutagenetix > Incidental Mutations

Incidental Mutation 'R7285:Efcab5'

565947

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7285 (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 77138215 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 97 (F97L)

Ref Sequence

ENSEMBL: ENSMUSP00000118152 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: F233L

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: F233L

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: F97L

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: F97L

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

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	C	13: 58,384,385	Y119C	probably damaging	Het
Abca12	A	T	1: 71,349,155	C185*	probably null	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Adam1b	T	G	5: 121,500,993	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,797,465	Q135L	probably benign	Het
Clca3b	T	C	3: 144,837,758	I437V	probably benign	Het
Cldn15	A	T	5: 136,972,473	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,456,651	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,845,080	C353*	probably null	Het
Dhcr24	T	A	4: 106,571,519		probably null	Het
Dock1	T	G	7: 134,745,008	L223R	probably benign	Het
Ece1	T	A	4: 137,913,763		probably null	Het
Eme2	A	T	17: 24,894,569		probably null	Het
Enpp1	G	A	10: 24,660,161	T447I	probably benign	Het
Fam222b	T	C	11: 78,143,181	S17P	probably benign	Het
Fbln1	A	G	15: 85,237,628	I317V	probably benign	Het
Fn1	T	C	1: 71,637,339	K578E	probably damaging	Het
Fscb	A	T	12: 64,471,549	S1048T	unknown	Het
Fsd1l	T	A	4: 53,682,200		probably null	Het
Gm340	A	G	19: 41,584,315	K503R	possibly damaging	Het
Hexa	T	A	9: 59,563,939	I492K	probably benign	Het
Inpp5e	G	A	2: 26,397,858	A642V	probably benign	Het
Ints11	C	T	4: 155,886,111	A241V	probably damaging	Het
Irs2	A	G	8: 11,006,797	L545P	probably damaging	Het
Katnal2	G	A	18: 76,993,575	A409V	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,087,896	K138R	probably damaging	Het
Lpp	G	A	16: 24,977,279	A558T	probably damaging	Het
Lypla1	T	C	1: 4,841,098	I202T	probably benign	Het
Magi3	G	A	3: 104,034,114	P842S	probably benign	Het
Meioc	G	A	11: 102,666,342	V25M	probably benign	Het
Mthfr	C	T	4: 148,053,599	T557I	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Olfr1165-ps	A	T	2: 88,101,705	I94N	probably damaging	Het
Olfr314	T	A	11: 58,786,484	Y83*	probably null	Het
Osbpl10	A	T	9: 115,223,703	I440F	probably damaging	Het
Otx2	G	A	14: 48,661,465	A36V	probably benign	Het
Parg	A	G	14: 32,210,508	Y435C	probably damaging	Het
Parvb	A	T	15: 84,282,784	D100V	possibly damaging	Het
Prss27	A	G	17: 24,045,691	H276R	probably benign	Het
Prune1	T	A	3: 95,255,046	S439C	probably damaging	Het
Pudp	C	G	18: 50,568,216	E149Q	possibly damaging	Het
Sin3a	C	A	9: 57,127,299	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,737,443	D927G	probably benign	Het
Stx18	C	T	5: 38,104,907	T89I	possibly damaging	Het
Ticrr	T	C	7: 79,660,862	S175P	possibly damaging	Het
Tinag	T	C	9: 77,045,661	T14A	probably benign	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Trpm1	G	T	7: 64,209,981	E396*	probably null	Het
Txndc11	A	G	16: 11,084,299	Y684H	probably damaging	Het
Usp47	G	A	7: 112,093,108	E926K	probably benign	Het
Vmn1r233	A	G	17: 20,993,959	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,203,885		probably null	Het
Zfp12	A	G	5: 143,244,689	K289R	probably damaging	Het
Zfp950	T	A	19: 61,119,112	H511L	probably benign	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
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	not run
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'- AGCAGATGTTTTGCGAGGCC -3'
(R):5'- GTAATAATCACTGCCCTCACTGCC -3'

Sequencing Primer
(F):5'- CCTGTAAGTGATACTCTGCGGGATC -3'
(R):5'- GCATTAGGGCCCTTTGTT -3'

Posted On

2019-06-26