Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Efcab5'

311764

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

040949-MU

Accession Numbers

Essential gene?

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

Stock #

R4012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77117830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 957 (V957I)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably damaging
Transcript: ENSMUST00000108400
AA Change: V957I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: V957I

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: V821I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: V821I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148985

Meta Mutation Damage Score

0.1527

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	C	5: 5,478,955	L20R	probably damaging	Het
2210016F16Rik	T	A	13: 58,381,986	K271*	probably null	Het
9930021J03Rik	T	G	19: 29,743,590	K622N	probably damaging	Het
Adnp2	G	T	18: 80,130,821	F124L	probably benign	Het
Aicda	A	G	6: 122,559,490	K10E	probably benign	Het
Als2	A	G	1: 59,187,416	C910R	probably benign	Het
Ankrd11	T	A	8: 122,892,417	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,424,709	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,725,106	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,766,907	D102G	probably damaging	Het
Babam2	T	C	5: 32,001,438	V244A	probably damaging	Het
Cars	G	A	7: 143,559,674	A668V	possibly damaging	Het
Ccdc185	T	A	1: 182,748,888	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,848,991	R1119G	probably damaging	Het
Cebpz	A	T	17: 78,924,467	V810E	probably damaging	Het
Cep120	T	C	18: 53,738,582	T73A	probably damaging	Het
Chat	C	A	14: 32,423,312	C380F	possibly damaging	Het
Cltc	T	C	11: 86,757,261	Q10R	probably benign	Het
Cst8	T	C	2: 148,804,702		probably benign	Het
Cts3	C	T	13: 61,568,054		probably null	Het
Cyp4a29	T	A	4: 115,248,510	D136E	probably benign	Het
Dmxl2	A	C	9: 54,379,013		probably null	Het
Dsg4	T	A	18: 20,451,862	V211E	possibly damaging	Het
Eif4g2	A	T	7: 111,074,151	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,390,094		probably benign	Het
Epm2aip1	A	T	9: 111,272,390	I144F	probably benign	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam170a	C	T	18: 50,281,971	A228V	probably damaging	Het
Foxred1	A	T	9: 35,206,275	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,898,820	C90S	probably benign	Het
Gm16286	A	G	18: 80,212,124	D211G	probably benign	Het
Gm8251	T	C	1: 44,060,969	D323G	possibly damaging	Het
Gpr137b	T	C	13: 13,359,362	T370A	probably benign	Het
Gtf2e2	A	G	8: 33,755,965		probably benign	Het
Hgsnat	A	T	8: 25,955,789	L359*	probably null	Het
Hhip	A	T	8: 79,992,594	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,259,127	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,512,638	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,329,650	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,312,310	Y69*	probably null	Het
Inpp5j	A	G	11: 3,500,185	F615L	probably benign	Het
Kcna1	T	A	6: 126,642,910	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,825,018		probably null	Het
Krtap4-1	G	T	11: 99,627,811	C124*	probably null	Het
Lama1	T	A	17: 67,812,373	L2615*	probably null	Het
Lcp2	A	T	11: 34,068,439	I72F	probably damaging	Het
Med1	T	A	11: 98,171,706	I189F	possibly damaging	Het
Meioc	C	T	11: 102,675,828	R757C	probably damaging	Het
Mtr	T	A	13: 12,189,397	H1171L	probably damaging	Het
Mtr	G	C	13: 12,189,398	H1171D	probably damaging	Het
Nlrc5	A	G	8: 94,475,992	Y240C	possibly damaging	Het
Nsun4	T	A	4: 116,051,062	H767L	possibly damaging	Het
Pcdha1	T	A	18: 36,931,136	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,763,361	S495R	probably benign	Het
Pramel1	T	A	4: 143,396,690	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,540,318	E183D	possibly damaging	Het
Prex2	T	C	1: 11,184,516	F1125L	probably benign	Het
Prkg2	T	C	5: 98,979,815	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,585	D1558G	probably damaging	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,068,028		probably null	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
S100a6	A	G	3: 90,614,201	D50G	probably damaging	Het
Shroom3	T	A	5: 92,948,483		probably benign	Het
Sipa1l1	G	A	12: 82,341,782	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 76,074,992	I337F	probably damaging	Het
Smarcc1	A	G	9: 110,132,205	Y30C	possibly damaging	Het
Swap70	A	G	7: 110,281,305	K576E	possibly damaging	Het
Syt6	A	G	3: 103,625,493		probably benign	Het
Szt2	T	C	4: 118,383,900	I1726V	probably benign	Het
Tdgf1	C	T	9: 110,940,713	M169I	probably benign	Het
Thoc1	A	G	18: 9,987,651	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409	I214V	probably benign	Het
Tonsl	A	T	15: 76,637,044	I354N	probably damaging	Het
Trappc9	T	C	15: 73,031,623	I303V	possibly damaging	Het
Trim66	A	G	7: 109,458,131	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,758,328	V6A	probably benign	Het
Ubtd2	A	G	11: 32,499,260	K36E	probably benign	Het
Zkscan2	T	C	7: 123,498,660	E171G	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
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'- ACTTCAGAAGGCGAAAATACTGTC -3'
(R):5'- TCCGAAGCTGGTGACAAATAC -3'

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

Posted On

2015-04-29