Mutagenetix > Incidental Mutation

Incidental Mutation 'R0968:Efcab5'

83958

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

039097-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77031749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 42 (R42W)

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: R178W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: R178W

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

probably damaging
Transcript: ENSMUST00000130901
AA Change: R42W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: R42W

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

0.3850

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.0%
20x: 96.7%

Validation Efficiency

94% (34/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,967 (GRCm39)	V719M	probably damaging	Het
Abca13	A	G	11: 9,248,016 (GRCm39)	S2588G	probably benign	Het
Acaca	C	T	11: 84,129,859 (GRCm39)	Q405*	probably null	Het
Brms1l	G	A	12: 55,912,798 (GRCm39)	D264N	possibly damaging	Het
Cabcoco1	T	C	10: 68,272,202 (GRCm39)	M254V	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Coro7	G	C	16: 4,487,919 (GRCm39)		probably benign	Het
Cylc2	A	G	4: 51,216,706 (GRCm39)	M1V	probably null	Het
Cyp3a11	G	A	5: 145,799,324 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,906,641 (GRCm39)	T4224M	probably damaging	Het
Dnah2	T	C	11: 69,339,345 (GRCm39)	E3054G	possibly damaging	Het
Dnm3	A	G	1: 161,847,388 (GRCm39)		probably benign	Het
Fgf12	T	C	16: 27,981,185 (GRCm39)	N177S	probably null	Het
Flt3	C	T	5: 147,278,037 (GRCm39)	V846I	possibly damaging	Het
Gm11569	A	T	11: 99,689,250 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,303 (GRCm39)	V181G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Lars1	C	A	18: 42,351,648 (GRCm39)	R852L	probably benign	Het
Lca5	T	C	9: 83,305,222 (GRCm39)	T195A	probably benign	Het
Lrrc40	G	A	3: 157,742,426 (GRCm39)	D14N	probably damaging	Het
Map4k2	T	C	19: 6,395,487 (GRCm39)	S327P	probably damaging	Het
Mpp4	A	G	1: 59,169,249 (GRCm39)	F397L	probably damaging	Het
Mtus2	T	C	5: 148,014,994 (GRCm39)	S596P	probably benign	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Nadsyn1	T	C	7: 143,359,770 (GRCm39)	T401A	probably benign	Het
Pde6a	A	T	18: 61,386,809 (GRCm39)	E395D	probably damaging	Het
Plekhm2	A	G	4: 141,357,243 (GRCm39)	V743A	probably benign	Het
Pzp	A	T	6: 128,502,108 (GRCm39)	D80E	probably benign	Het
Rp1	A	T	1: 4,415,575 (GRCm39)	C1846S	probably benign	Het
Shbg	A	G	11: 69,508,014 (GRCm39)	L117P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Supt20	A	G	3: 54,615,821 (GRCm39)		probably benign	Het
Vcpip1	A	T	1: 9,816,604 (GRCm39)	I593N	probably damaging	Het

Other mutations in Efcab5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Efcab5	APN	11	77,027,862 (GRCm39)	missense	probably benign	0.04
IGL01343:Efcab5	APN	11	77,020,756 (GRCm39)	missense	probably damaging	1.00
IGL02190:Efcab5	APN	11	77,012,140 (GRCm39)	missense	probably benign	0.38
IGL02270:Efcab5	APN	11	76,995,139 (GRCm39)	missense	probably damaging	0.97
IGL02572:Efcab5	APN	11	77,028,714 (GRCm39)	nonsense	probably null
IGL02653:Efcab5	APN	11	77,022,848 (GRCm39)	missense	probably damaging	0.99
IGL02818:Efcab5	APN	11	76,996,174 (GRCm39)	missense	probably damaging	0.99
IGL03068:Efcab5	APN	11	76,994,927 (GRCm39)	missense	probably benign
IGL03222:Efcab5	APN	11	77,028,193 (GRCm39)	missense	probably benign	0.40
IGL03226:Efcab5	APN	11	77,028,501 (GRCm39)	missense	possibly damaging	0.92
IGL03257:Efcab5	APN	11	77,079,596 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Efcab5	UTSW	11	77,028,517 (GRCm39)
PIT4418001:Efcab5	UTSW	11	77,022,877 (GRCm39)	missense	possibly damaging	0.89
R0276:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0276:Efcab5	UTSW	11	77,020,702 (GRCm39)	missense	probably damaging	1.00
R0277:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0284:Efcab5	UTSW	11	76,994,353 (GRCm39)	intron	probably benign
R0386:Efcab5	UTSW	11	77,063,204 (GRCm39)	missense	probably benign	0.30
R0386:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0966:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R1433:Efcab5	UTSW	11	76,996,204 (GRCm39)	missense	probably benign	0.09
R1673:Efcab5	UTSW	11	77,042,679 (GRCm39)	missense	probably damaging	0.99
R1842:Efcab5	UTSW	11	77,025,701 (GRCm39)	missense	probably benign	0.00
R1848:Efcab5	UTSW	11	76,994,132 (GRCm39)	missense	probably damaging	1.00
R2069:Efcab5	UTSW	11	77,063,147 (GRCm39)	missense	probably benign	0.06
R3713:Efcab5	UTSW	11	77,007,008 (GRCm39)	missense	probably damaging	1.00
R4012:Efcab5	UTSW	11	77,008,656 (GRCm39)	missense	probably damaging	0.98
R4020:Efcab5	UTSW	11	76,994,930 (GRCm39)	missense	probably benign	0.33
R4391:Efcab5	UTSW	11	76,981,284 (GRCm39)	missense	probably damaging	0.99
R4392:Efcab5	UTSW	11	76,981,284 (GRCm39)	missense	probably damaging	0.99
R4692:Efcab5	UTSW	11	77,004,507 (GRCm39)	missense	probably damaging	1.00
R4929:Efcab5	UTSW	11	76,994,209 (GRCm39)	missense	probably benign	0.36
R4985:Efcab5	UTSW	11	77,029,055 (GRCm39)	missense	probably damaging	0.98
R4988:Efcab5	UTSW	11	77,028,078 (GRCm39)	missense	probably damaging	1.00
R5246:Efcab5	UTSW	11	77,079,671 (GRCm39)	missense	probably damaging	1.00
R5260:Efcab5	UTSW	11	77,028,477 (GRCm39)	missense	possibly damaging	0.92
R5387:Efcab5	UTSW	11	77,025,668 (GRCm39)	missense	possibly damaging	0.93
R5516:Efcab5	UTSW	11	77,079,615 (GRCm39)	missense	possibly damaging	0.62
R5535:Efcab5	UTSW	11	77,042,747 (GRCm39)	missense	probably damaging	1.00
R5694:Efcab5	UTSW	11	77,079,701 (GRCm39)	missense	probably benign	0.09
R5922:Efcab5	UTSW	11	77,079,570 (GRCm39)	missense	probably benign	0.44
R6030:Efcab5	UTSW	11	77,012,088 (GRCm39)	missense	probably damaging	1.00
R6030:Efcab5	UTSW	11	77,012,088 (GRCm39)	missense	probably damaging	1.00
R6183:Efcab5	UTSW	11	77,028,084 (GRCm39)	missense	probably benign	0.04
R6437:Efcab5	UTSW	11	77,028,728 (GRCm39)	missense	probably benign	0.25
R6442:Efcab5	UTSW	11	76,996,260 (GRCm39)	nonsense	probably null
R6592:Efcab5	UTSW	11	77,004,436 (GRCm39)	missense	possibly damaging	0.90
R6769:Efcab5	UTSW	11	76,996,258 (GRCm39)	missense	probably damaging	0.98
R7257:Efcab5	UTSW	11	77,028,605 (GRCm39)	missense	probably damaging	0.99
R7285:Efcab5	UTSW	11	77,029,041 (GRCm39)	missense	possibly damaging	0.49
R7285:Efcab5	UTSW	11	77,028,170 (GRCm39)	missense	probably benign
R7350:Efcab5	UTSW	11	77,028,387 (GRCm39)	missense	probably benign	0.05
R7369:Efcab5	UTSW	11	77,008,661 (GRCm39)	missense	possibly damaging	0.60
R7760:Efcab5	UTSW	11	77,042,752 (GRCm39)	missense	probably benign	0.31
R8213:Efcab5	UTSW	11	77,006,897 (GRCm39)	missense	probably damaging	1.00
R8690:Efcab5	UTSW	11	76,994,115 (GRCm39)	missense	probably damaging	0.98
R9294:Efcab5	UTSW	11	77,012,064 (GRCm39)	missense	probably benign	0.03
R9310:Efcab5	UTSW	11	77,004,531 (GRCm39)	missense	probably benign	0.23
R9324:Efcab5	UTSW	11	77,004,546 (GRCm39)	missense	possibly damaging	0.95
R9404:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9405:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9407:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9509:Efcab5	UTSW	11	76,994,977 (GRCm39)	missense	possibly damaging	0.94
R9562:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9651:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9748:Efcab5	UTSW	11	77,007,022 (GRCm39)	nonsense	probably null
X0061:Efcab5	UTSW	11	77,007,060 (GRCm39)	missense	probably damaging	1.00
Z1176:Efcab5	UTSW	11	77,022,965 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTCATTGGACTACAACACCCAGC -3'
(R):5'- TTCAACAAGTCGTGCCAGTCCC -3'

Sequencing Primer
(F):5'- AGCTTCAGCTCCAGGACATTC -3'
(R):5'- CCTACGGGCAAGATATAGCTTC -3'

Posted On

2013-11-08