Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03068:Efcab5'

409765

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 #

IGL03068

Quality Score

Status

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76994927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1215 (I1215L)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: I1215L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: I1215L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,311,171 (GRCm39)	L14P	probably damaging	Het
Ak2	G	T	4: 128,901,819 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,246 (GRCm39)	Y311C	probably damaging	Het
Arl9	C	A	5: 77,155,225 (GRCm39)	L119I	possibly damaging	Het
Atp1a1	T	C	3: 101,491,175 (GRCm39)	H620R	probably benign	Het
Cfap52	T	C	11: 67,826,682 (GRCm39)	D381G	probably benign	Het
Cngb3	T	C	4: 19,375,246 (GRCm39)	F292S	possibly damaging	Het
Comtd1	G	A	14: 21,897,711 (GRCm39)	R203C	probably damaging	Het
Crmp1	G	T	5: 37,422,633 (GRCm39)	A147S	possibly damaging	Het
Csmd3	T	A	15: 47,710,517 (GRCm39)	H1586L	possibly damaging	Het
Ctnna1	G	A	18: 35,382,785 (GRCm39)	E644K	possibly damaging	Het
Dock3	T	C	9: 106,841,958 (GRCm39)	D957G	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eefsec	G	T	6: 88,235,209 (GRCm39)	Q576K	probably benign	Het
Etfa	A	T	9: 55,394,766 (GRCm39)	D160E	probably benign	Het
Exoc7	G	A	11: 116,191,960 (GRCm39)	R197C	possibly damaging	Het
G6pc1	A	G	11: 101,261,576 (GRCm39)	D92G	probably benign	Het
Gm3182	T	A	14: 4,483,921 (GRCm38)		probably null	Het
Gm4952	A	G	19: 12,601,068 (GRCm39)	N96S	probably damaging	Het
Gpr156	G	A	16: 37,812,491 (GRCm39)	V276M	probably damaging	Het
Irs2	A	G	8: 11,054,974 (GRCm39)	S1153P	probably damaging	Het
Kif21b	T	C	1: 136,086,093 (GRCm39)		probably benign	Het
Lmo7	A	T	14: 102,112,928 (GRCm39)		probably benign	Het
Mapk4	G	T	18: 74,103,415 (GRCm39)	N31K	probably damaging	Het
Mccc2	T	C	13: 100,100,319 (GRCm39)	T357A	probably damaging	Het
Mpeg1	A	G	19: 12,439,570 (GRCm39)	T343A	probably benign	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Pald1	T	C	10: 61,156,963 (GRCm39)	E829G	possibly damaging	Het
Pde11a	A	G	2: 75,848,208 (GRCm39)	I873T	probably damaging	Het
Samd9l	T	A	6: 3,375,348 (GRCm39)	K638*	probably null	Het
Sema4d	A	G	13: 51,862,922 (GRCm39)	S479P	probably damaging	Het
Slc12a2	T	C	18: 58,037,407 (GRCm39)		probably benign	Het
Slc47a2	T	C	11: 61,194,769 (GRCm39)	N470S	probably damaging	Het
Spag17	C	T	3: 99,987,521 (GRCm39)	P1604S	probably benign	Het
Taf8	C	A	17: 47,812,290 (GRCm39)	V39L	probably damaging	Het
Tlr11	A	G	14: 50,598,941 (GRCm39)	E309G	probably benign	Het
Tmem260	A	G	14: 48,724,371 (GRCm39)		probably benign	Het
Tsc1	A	T	2: 28,571,270 (GRCm39)	K816M	probably damaging	Het
Ttc29	A	G	8: 79,052,180 (GRCm39)	I354V	probably benign	Het
Ttll3	A	T	6: 113,386,158 (GRCm39)	N665Y	probably damaging	Het
Ubr4	A	G	4: 139,137,041 (GRCm39)	T971A	probably benign	Het
Vmn2r96	T	A	17: 18,803,137 (GRCm39)	I349N	probably benign	Het
Vwa5a	A	G	9: 38,646,143 (GRCm39)	T504A	probably benign	Het
Ythdf3	T	A	3: 16,258,882 (GRCm39)	V354E	possibly damaging	Het
Zan	C	A	5: 137,474,677 (GRCm39)	G13V	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
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

2016-08-02