Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00663:Efcab5'

13438

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00663

Quality Score

Status

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 77027862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 490 (S490A)

Ref Sequence

ENSEMBL: ENSMUSP00000118152 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: S626A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: S626A

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 benign
Transcript: ENSMUST00000130901
AA Change: S490A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: S490A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,977,916 (GRCm39)	E498G	probably damaging	Het
Akr1c19	C	T	13: 4,298,128 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,710,118 (GRCm39)	Y298C	probably damaging	Het
Col14a1	T	C	15: 55,274,981 (GRCm39)	I739T	unknown	Het
Evc2	T	C	5: 37,579,235 (GRCm39)	V1116A	probably benign	Het
Nkrf	G	T	X: 36,152,752 (GRCm39)	T510N	possibly damaging	Het
Rel	A	G	11: 23,707,043 (GRCm39)	M53T	probably benign	Het
Spata31	C	T	13: 65,070,602 (GRCm39)	Q917*	probably null	Het
Traf3ip3	T	A	1: 192,869,446 (GRCm39)	K246N	probably damaging	Het
Trim69	A	G	2: 121,998,195 (GRCm39)	T56A	probably benign	Het

Other mutations in Efcab5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06