Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Efcab5'

226965

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R2069 (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 77172321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 115 (M115K)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: M115K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: M115K

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

noncoding transcript
Transcript: ENSMUST00000155085

Meta Mutation Damage Score

0.1452

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 114,874,280	V86A	probably benign	Het
Abcc3	A	T	11: 94,364,417	I601N	probably damaging	Het
Abl2	T	A	1: 156,620,827		probably null	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,959,996	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,600	G247D	probably damaging	Het
Arid2	C	T	15: 96,362,590	L407F	probably damaging	Het
Atp13a1	T	C	8: 69,799,773	F606L	probably benign	Het
Avl9	T	A	6: 56,736,435		probably benign	Het
B3glct	C	T	5: 149,709,380	A65V	probably damaging	Het
Bcorl1	T	C	X: 48,401,917		probably benign	Het
Bdp1	T	C	13: 100,050,988	T1624A	probably benign	Het
Bmp15	A	G	X: 6,316,021	M263T	probably benign	Het
Brd8	T	C	18: 34,614,479	K110E	probably damaging	Het
Cachd1	A	G	4: 100,990,844	D1052G	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Ccdc113	G	A	8: 95,557,296	E333K	probably benign	Het
Ccnl2	A	T	4: 155,812,481		probably null	Het
Ccr9	T	C	9: 123,779,364	F37S	probably benign	Het
Cdh7	A	T	1: 110,138,159	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,778,372	N104I	probably damaging	Het
Cenpk	T	A	13: 104,236,176		probably benign	Het
Cfi	A	G	3: 129,858,804		probably null	Het
Chd1	T	C	17: 15,742,294	F771S	probably damaging	Het
Chil4	G	A	3: 106,219,455	L4F	probably benign	Het
Cilp	G	A	9: 65,278,090	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,358,725	G402R	probably benign	Het
Coq8b	A	G	7: 27,257,377	E485G	probably damaging	Het
Cse1l	A	G	2: 166,941,492	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,388		probably null	Het
Dnmt3l	T	C	10: 78,052,732	V156A	probably damaging	Het
Duox1	A	T	2: 122,333,062	T792S	probably benign	Het
Duox2	T	C	2: 122,287,108	D915G	probably benign	Het
Eif2s1	G	A	12: 78,877,185	D139N	probably benign	Het
Erg	A	G	16: 95,361,078	F390L	probably damaging	Het
Fam193b	A	T	13: 55,542,998	S650R	probably damaging	Het
Fbp2	T	A	13: 62,854,061	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,758,372	S496A	probably damaging	Het
Gab3	C	A	X: 75,000,095	R475L	probably damaging	Het
Gm7534	T	G	4: 134,201,941	N351T	possibly damaging	Het
Gsap	T	C	5: 21,226,839		probably benign	Het
Gucy1a2	C	T	9: 3,582,697	L160F	probably damaging	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Hrasls5	T	C	19: 7,612,638	S10P	possibly damaging	Het
Insc	G	T	7: 114,804,593		probably null	Het
Jph2	A	G	2: 163,339,685	S520P	possibly damaging	Het
Kidins220	T	A	12: 24,987,006		probably benign	Het
Krtap29-1	A	G	11: 99,978,612	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,793,733	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,950,027	F294S	probably damaging	Het
Map4k2	C	A	19: 6,342,738		probably benign	Het
Mboat2	T	C	12: 24,951,443	V281A	probably benign	Het
Mdga2	G	A	12: 66,568,917	R570*	probably null	Het
Mlxipl	A	G	5: 135,107,005	D28G	probably damaging	Het
Morc2b	T	C	17: 33,136,760	I679M	probably benign	Het
Myh4	T	C	11: 67,246,366		probably benign	Het
Nfib	A	C	4: 82,498,615	L61R	probably damaging	Het
Noc2l	C	A	4: 156,241,450	Y227*	probably null	Het
Nrde2	A	G	12: 100,142,232	S367P	probably damaging	Het
Nup93	C	A	8: 94,243,739	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1283	A	G	2: 111,369,095	I154M	probably benign	Het
Olfr6	A	T	7: 106,956,287	Y216*	probably null	Het
Olfr714	A	T	7: 107,074,619	K264*	probably null	Het
Olfr749	T	A	14: 50,736,576	E195D	possibly damaging	Het
Olfr824	A	G	10: 130,126,205	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,092,525	A319S	probably null	Het
P2ry10	A	G	X: 107,103,253	S265G	probably benign	Het
Peak1	A	T	9: 56,258,759	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,821,231	Q168L	probably benign	Het
Plec	A	G	15: 76,188,926	M604T	probably benign	Het
Pmfbp1	A	T	8: 109,532,103	N680I	possibly damaging	Het
Pnmal2	T	C	7: 16,945,789	W233R	probably damaging	Het
Pxn	A	G	5: 115,545,667	N186S	probably benign	Het
Rsad1	A	C	11: 94,549,125		probably benign	Het
Runx2	A	G	17: 44,735,342	I112T	probably benign	Het
S1pr2	A	T	9: 20,967,494	L346Q	probably damaging	Het
Skint6	A	G	4: 113,238,132	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,726,980	F234Y	probably damaging	Het
Slitrk2	T	A	X: 66,654,629	V242D	probably damaging	Het
Sp100	A	G	1: 85,681,142		probably null	Het
Spryd3	A	C	15: 102,118,181	L352V	probably benign	Het
Ssc4d	A	C	5: 135,970,317	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870	D83E	probably damaging	Het
Tlk2	A	T	11: 105,240,440	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,037,938	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,766,087	D1154E	unknown	Het
Trap1	A	G	16: 4,068,336	S86P	probably benign	Het
Trim32	T	A	4: 65,614,776	C523*	probably null	Het
Ttc38	G	T	15: 85,838,788	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,631,796	L131Q	probably damaging	Het
Ttn	T	C	2: 76,726,848		probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubash3b	G	A	9: 41,043,573	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,948,099	N367S	probably damaging	Het
Ubr4	T	A	4: 139,479,540	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,224,483	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,556,098	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 42,300,001	D615G	probably benign	Het
Wdr24	T	A	17: 25,826,282	D330E	probably damaging	Het
Zbbx	A	T	3: 75,078,412	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,792,328	Q757L	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
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
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'- TCTCACTACATAGATCAAGCTGG -3'
(R):5'- ACCAAGGGTTCTTAGCATGC -3'

Sequencing Primer
(F):5'- ACAGGTCAAGAATTGGCTTAGTTCG -3'
(R):5'- CCAAGGGTTCTTAGCATGCATTCTG -3'

Posted On

2014-09-17