Mutagenetix > Incidental Mutation

Incidental Mutation 'R5535:Efcab5'

434783

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

043093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5535 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77042747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2 (L2P)

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: L138P

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

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: L138P

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: ENSMUST00000119288

Predicted Effect

probably damaging
Transcript: ENSMUST00000130901
AA Change: L2P

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

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: L2P

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: ENSMUST00000155085

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	C	T	9: 118,977,474 (GRCm39)	G403S	probably damaging	Het
Agbl2	G	A	2: 90,640,350 (GRCm39)	V699I	probably benign	Het
Amer2	AAGGAGGAGGAGGAG	AAGGAGGAGGAG	14: 60,616,302 (GRCm39)		probably benign	Het
Bace2	A	T	16: 97,214,625 (GRCm39)	Q271L	probably damaging	Het
Btn2a2	T	C	13: 23,662,445 (GRCm39)	K493E	probably benign	Het
Ces3a	T	A	8: 105,778,196 (GRCm39)	D222E	probably benign	Het
Ckap2l	A	G	2: 129,127,762 (GRCm39)	C139R	probably benign	Het
Clip4	A	G	17: 72,138,257 (GRCm39)	H485R	probably benign	Het
Cntfr	T	A	4: 41,663,216 (GRCm39)	D197V	probably benign	Het
Elmo2	A	G	2: 165,152,132 (GRCm39)	V163A	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flrt2	A	G	12: 95,747,200 (GRCm39)	T513A	probably benign	Het
Gm10801	GT	GTTTTT	2: 98,492,844 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,849,109 (GRCm39)	F332I	probably damaging	Het
Helz	A	G	11: 107,536,946 (GRCm39)	D947G	probably damaging	Het
Hivep2	T	A	10: 14,006,766 (GRCm39)	D1121E	probably benign	Het
Hoxa13	GG	GGCG	6: 52,237,520 (GRCm39)		probably null	Homo
Hoxd13	A	T	2: 74,499,141 (GRCm39)	Y163F	probably damaging	Het
Immt	C	A	6: 71,829,768 (GRCm39)	P158Q	probably null	Het
Kcnh5	A	G	12: 75,177,681 (GRCm39)	S142P	possibly damaging	Het
Lnpep	T	G	17: 17,758,956 (GRCm39)	H796P	probably benign	Het
Mfhas1	C	A	8: 36,057,423 (GRCm39)	R633S	possibly damaging	Het
Mmp25	A	G	17: 23,863,734 (GRCm39)	L32P	probably benign	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo18b	T	C	5: 112,937,908 (GRCm39)	E1739G	probably damaging	Het
Or8b44	T	A	9: 38,410,294 (GRCm39)	S110T	probably benign	Het
Parp9	A	G	16: 35,777,195 (GRCm39)	K147E	probably damaging	Het
Pcdha3	G	T	18: 37,080,989 (GRCm39)	R577L	probably benign	Het
Plod2	T	A	9: 92,488,622 (GRCm39)	I637N	probably damaging	Het
Polk	T	G	13: 96,632,005 (GRCm39)	S243R	probably damaging	Het
Prag1	T	C	8: 36,571,168 (GRCm39)	S584P	probably benign	Het
Prex1	A	T	2: 166,422,193 (GRCm39)	V43E	possibly damaging	Het
Rdh10	T	C	1: 16,201,408 (GRCm39)	Y294H	probably damaging	Het
Rnf126	T	A	10: 79,598,533 (GRCm39)	I28F	probably damaging	Het
Sdk2	T	A	11: 113,833,984 (GRCm39)	H66L	possibly damaging	Het
Tet1	G	T	10: 62,668,686 (GRCm39)	P1431Q	probably damaging	Het
Tmco2	T	A	4: 120,963,190 (GRCm39)	Q103L	possibly damaging	Het
Ucp3	A	T	7: 100,129,873 (GRCm39)	R172W	probably benign	Het
Unc79	A	T	12: 103,135,962 (GRCm39)	I2270F	possibly 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
R0968: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
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'- ATAGTGGTCAGTAGGCCACC -3'
(R):5'- CACTGTGGTAAGCACACAATG -3'

Sequencing Primer
(F):5'- TGGTCAGTAGGCCACCATCATC -3'
(R):5'- CACAATGTGGAAACATTTTGCAGCTG -3'

Posted On

2016-10-24