Mutagenetix > Incidental Mutation

Incidental Mutation 'R6442:Efcab5'

519069

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

044580-MU

Accession Numbers

Essential gene?

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

Stock #

R6442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 76996260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1100 (Y1100*)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably null
Transcript: ENSMUST00000108400
AA Change: Y1100*

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: Y1100*

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: ENSMUST00000117087

Predicted Effect

probably benign
Transcript: ENSMUST00000130901

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151731

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9a	T	C	2: 168,491,481 (GRCm39)	T695A	probably benign	Het
Btla	A	G	16: 45,044,821 (GRCm39)	N36D	probably benign	Het
Btla	T	C	16: 45,070,713 (GRCm39)	V224A	possibly damaging	Het
Cep126	T	C	9: 8,100,564 (GRCm39)	N657D	probably benign	Het
Cops3	T	A	11: 59,718,780 (GRCm39)	K171N	probably benign	Het
Crocc2	A	G	1: 93,112,775 (GRCm39)	R193G	probably benign	Het
Dis3l	T	C	9: 64,214,837 (GRCm39)	I911V	probably benign	Het
Dpp6	G	A	5: 27,923,507 (GRCm39)		probably null	Het
Fcgbpl1	C	T	7: 27,843,611 (GRCm39)	T833I	possibly damaging	Het
Galnt10	A	G	11: 57,656,448 (GRCm39)	T211A	probably benign	Het
Gdf9	A	G	11: 53,324,515 (GRCm39)	T95A	probably benign	Het
Gm826	T	A	2: 160,169,328 (GRCm39)		probably benign	Het
Hsd17b6	C	T	10: 127,829,636 (GRCm39)		probably null	Het
Hyal4	A	G	6: 24,765,849 (GRCm39)	N401S	probably benign	Het
Itga8	C	T	2: 12,234,954 (GRCm39)	V435I	probably benign	Het
Nr1h5	G	A	3: 102,848,427 (GRCm39)	P418L	probably damaging	Het
Or3a4	G	A	11: 73,945,505 (GRCm39)	R27W	probably benign	Het
Or4f15	G	A	2: 111,813,874 (GRCm39)	P182S	probably damaging	Het
Or4n4	T	G	14: 50,518,826 (GRCm39)	K295Q	probably damaging	Het
Or6c214	C	A	10: 129,591,277 (GRCm39)	G14V	probably damaging	Het
Or9i14	T	C	19: 13,792,992 (GRCm39)		probably benign	Het
Prdm11	G	A	2: 92,805,990 (GRCm39)	A320V	probably benign	Het
Ptpn5	T	C	7: 46,732,831 (GRCm39)		probably null	Het
Reln	T	A	5: 22,137,774 (GRCm39)	I2473L	probably benign	Het
Rmnd5a	A	T	6: 71,371,659 (GRCm39)	C180*	probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sapcd2	T	A	2: 25,266,134 (GRCm39)		probably benign	Het
Sec24b	A	G	3: 129,790,350 (GRCm39)	L462S	probably damaging	Het
Slc26a9	A	T	1: 131,686,555 (GRCm39)	Y425F	possibly damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Tgs1	T	A	4: 3,604,760 (GRCm39)	Y727*	probably null	Het
Tmem80	T	C	7: 140,915,839 (GRCm39)	V83A	probably benign	Het
Ttn	T	C	2: 76,551,978 (GRCm39)	T31220A	probably benign	Het
Usp46	A	T	5: 74,177,377 (GRCm39)	D167E	probably benign	Het
Vmn2r67	T	A	7: 84,805,046 (GRCm39)	D22V	possibly damaging	Het
Zswim5	C	A	4: 116,808,202 (GRCm39)	P262Q	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
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
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
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'- GTGTATGTAGCAACTAGGGCAG -3'
(R):5'- GGGATATGGTTCTTTTAATGACCC -3'

Sequencing Primer
(F):5'- CTAGGGCAGAAGTGTCTTCAC -3'
(R):5'- AAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2018-05-24