Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Efcab5'

480350

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

044202-MU

Accession Numbers

Essential gene?

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

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77012088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 722 (L722P)

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: L858P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: L858P

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: L722P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: L722P

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.1%
20x: 86.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,133,021 (GRCm39)	N1317D	probably benign	Het
Abhd8	T	A	8: 71,910,794 (GRCm39)	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,493,346 (GRCm39)	N297K	probably damaging	Het
Agap1	A	G	1: 89,558,156 (GRCm39)	D148G	probably damaging	Het
Alox12	T	C	11: 70,145,417 (GRCm39)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,224,573 (GRCm39)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,255,968 (GRCm39)		probably null	Het
Atp4a	G	C	7: 30,421,941 (GRCm39)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,657,060 (GRCm39)	D256G	probably damaging	Het
Bckdha	T	A	7: 25,330,866 (GRCm39)	D50V	probably damaging	Het
Cast	A	G	13: 74,844,056 (GRCm39)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,412,267 (GRCm39)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,545,700 (GRCm39)	Y924C	unknown	Het
Crkl	A	G	16: 17,270,604 (GRCm39)	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,761,541 (GRCm39)	F32L	probably benign	Het
Dmxl2	C	T	9: 54,300,957 (GRCm39)	V2385I	probably benign	Het
Dnah1	T	A	14: 30,989,984 (GRCm39)	I3219F	probably damaging	Het
Dnah17	C	T	11: 117,916,375 (GRCm39)	R4266H	probably benign	Het
Emilin3	C	A	2: 160,751,105 (GRCm39)	V215L	probably benign	Het
Entr1	T	C	2: 26,276,983 (GRCm39)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,696,622 (GRCm39)	N157I	possibly damaging	Het
Esrrg	A	G	1: 187,930,904 (GRCm39)	M309V	probably benign	Het
Fam120b	G	A	17: 15,622,172 (GRCm39)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,201,129 (GRCm39)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,309,414 (GRCm39)	I175N	probably benign	Het
Gm1043	T	A	5: 37,311,952 (GRCm39)		probably benign	Het
Gm21060	A	G	19: 61,285,411 (GRCm39)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,496,510 (GRCm39)	S28L	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifi44	T	C	3: 151,455,195 (GRCm39)	Q10R	probably benign	Het
Impa2	T	C	18: 67,451,498 (GRCm39)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,421,108 (GRCm39)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,611,474 (GRCm39)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm39)	H300L	probably benign	Het
Mllt6	A	T	11: 97,568,051 (GRCm39)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,321,712 (GRCm39)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,346,168 (GRCm39)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,082,087 (GRCm39)		probably null	Het
Nek4	T	C	14: 30,678,890 (GRCm39)	F138S	probably damaging	Het
Nfatc4	T	A	14: 56,069,897 (GRCm39)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,175,057 (GRCm39)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,409,149 (GRCm39)	Y190F	probably benign	Het
Or10ab5	A	C	7: 108,245,433 (GRCm39)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,534,637 (GRCm39)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,267,556 (GRCm39)	L256R	probably damaging	Het
Or52b4i	C	A	7: 102,191,817 (GRCm39)	R225S	probably benign	Het
Or5p52	A	G	7: 107,502,620 (GRCm39)	E232G	probably benign	Het
Or6c68	A	T	10: 129,158,238 (GRCm39)	T249S	probably benign	Het
Osbpl7	A	C	11: 96,943,087 (GRCm39)	H113P	probably benign	Het
Pam16l	C	T	10: 43,400,252 (GRCm39)	A30V	probably benign	Het
Pck1	A	G	2: 172,996,650 (GRCm39)	E188G	probably benign	Het
Pimreg	A	G	11: 71,936,576 (GRCm39)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,769,976 (GRCm39)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,441,005 (GRCm39)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,742,338 (GRCm39)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,024,659 (GRCm39)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,068,245 (GRCm39)	N1764D	probably benign	Het
Pygm	C	T	19: 6,438,842 (GRCm39)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,626,299 (GRCm39)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Setbp1	T	G	18: 78,900,926 (GRCm39)	I914L	probably benign	Het
Shprh	A	C	10: 11,027,735 (GRCm39)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,742,725 (GRCm39)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,657,985 (GRCm39)		probably null	Het
Spin1	T	A	13: 51,293,552 (GRCm39)	Y87*	probably null	Het
Spring1	T	C	5: 118,393,798 (GRCm39)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,061,477 (GRCm39)		probably null	Het
Sufu	T	C	19: 46,463,978 (GRCm39)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,110,624 (GRCm39)	V242G	probably benign	Het
Tgm3	A	T	2: 129,883,920 (GRCm39)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,967 (GRCm39)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm39)	D454G	probably benign	Het
Ttn	T	C	2: 76,646,943 (GRCm39)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Umps	A	G	16: 33,782,508 (GRCm39)	V138A	probably benign	Het
Ypel1	A	G	16: 16,902,377 (GRCm39)		probably null	Het
Zdhhc19	T	A	16: 32,317,860 (GRCm39)	L63Q	probably null	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
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
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

Posted On

2017-06-26