Mutagenetix > Incidental Mutation

Incidental Mutation 'R5516:Efcab5'

431302

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

043075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77188789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 44 (S44T)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108400
AA Change: S44T

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: S44T

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

Meta Mutation Damage Score

0.0769

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.4%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,431,157	K334R	probably damaging	Het
Aldh1l1	A	T	6: 90,596,945	I809F	possibly damaging	Het
Bmp2k	T	A	5: 97,087,453		probably benign	Het
C1qtnf9	T	A	14: 60,779,749	C243S	probably damaging	Het
Cacna1c	G	A	6: 119,057,218	A146V	probably damaging	Het
Ccdc85c	A	G	12: 108,207,850	V353A	probably damaging	Het
Cd300ld2	G	T	11: 115,012,444		probably benign	Het
Cd320	A	G	17: 33,848,047	Q170R	possibly damaging	Het
Cfap43	C	T	19: 47,738,209		probably null	Het
Chid1	A	G	7: 141,496,146	S365P	probably damaging	Het
Chrna7	T	G	7: 63,099,298	T479P	probably damaging	Het
Clasp1	G	T	1: 118,497,721	R35L	probably damaging	Het
Cluh	G	A	11: 74,660,444	R373H	probably damaging	Het
Cyp2b23	G	A	7: 26,673,057	R378*	probably null	Het
Cyp2d9	T	G	15: 82,454,327	N136K	probably null	Het
Esrrg	A	T	1: 188,198,730	L316F	possibly damaging	Het
Fam222a	T	C	5: 114,611,828	Y362H	probably damaging	Het
Fat3	A	G	9: 15,998,709	V1999A	probably damaging	Het
Fes	A	T	7: 80,387,183	M51K	probably damaging	Het
Fmo3	T	A	1: 162,954,426	K453*	probably null	Het
Galnt1	A	G	18: 24,280,017	N458S	probably benign	Het
Gm13083	A	G	4: 143,615,683	Q120R	possibly damaging	Het
Gm8888	T	A	15: 96,766,974		noncoding transcript	Het
Gpn2	G	A	4: 133,584,879		probably null	Het
Grm4	G	A	17: 27,438,411	T464I	probably benign	Het
Insr	T	A	8: 3,155,764	K1342*	probably null	Het
Krt83	T	A	15: 101,487,121	K365*	probably null	Het
Lfng	T	C	5: 140,613,263	L309P	probably damaging	Het
Lnpk	T	C	2: 74,547,788		probably benign	Het
Lrrc8e	A	C	8: 4,235,818	D681A	probably damaging	Het
Lyst	G	A	13: 13,644,122	D1326N	probably benign	Het
Mmp27	A	G	9: 7,579,062	R413G	probably null	Het
Nags	C	T	11: 102,145,947	Q121*	probably null	Het
Nectin1	A	G	9: 43,803,793	E442G	probably benign	Het
Nek1	G	C	8: 61,089,489	A729P	probably benign	Het
Olfr645	A	G	7: 104,084,237	I281T	possibly damaging	Het
Pnp2	C	T	14: 50,963,738	A189V	probably benign	Het
Ppm1m	T	A	9: 106,197,939	I136F	probably damaging	Het
Psg17	G	T	7: 18,814,533	Q438K	probably benign	Het
Ptprk	C	T	10: 28,496,930	R726*	probably null	Het
Rab3gap2	A	T	1: 185,235,487	Y163F	probably benign	Het
Scrib	A	T	15: 76,062,863	L627Q	possibly damaging	Het
Tcp1	A	G	17: 12,924,334	K510R	probably damaging	Het
Tle4	A	T	19: 14,454,889	I481N	probably damaging	Het
Tmem43	G	T	6: 91,478,210	R56L	possibly damaging	Het
Trmt10a	T	C	3: 138,152,196	I168T	possibly damaging	Het
Trpv1	A	T	11: 73,245,983	Y96F	probably benign	Het
Tshz3	C	T	7: 36,770,350	T588I	probably benign	Het
Ugt2b38	A	G	5: 87,411,843	F397L	probably damaging	Het
Vmn2r11	A	G	5: 109,047,166	S765P	probably damaging	Het
Zfp668	A	G	7: 127,867,146	F289L	probably damaging	Het
Zfp735	A	G	11: 73,710,814	T195A	probably benign	Het
Zscan10	A	G	17: 23,609,359	T182A	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
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
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'- TTCTCAAGTGCCAGGATCAC -3'
(R):5'- ACAAGCTTCTACCCACCTTG -3'

Sequencing Primer
(F):5'- TCAAGTGCCAGGATCACCAGTG -3'
(R):5'- ACCTTGGTTCCCGGAGTG -3'

Posted On

2016-10-05