Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00435:Efcab12'

332420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab12

Ensembl Gene

ENSMUSG00000030321

Gene Name

EF-hand calcium binding domain 12

Synonyms

BC060267

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL00435

Quality Score

Status

Chromosome

Chromosomal Location

115787695-115815177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115800625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 133 (T133A)

Ref Sequence

ENSEMBL: ENSMUSP00000139385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032468] [ENSMUST00000124531] [ENSMUST00000184428]

AlphaFold

V9GXH0

Predicted Effect

probably benign
Transcript: ENSMUST00000032468
AA Change: T133A

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

SMART Domains

Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321
AA Change: T133A

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	302	344	1e-3	SMART
low complexity region	438	445	N/A	INTRINSIC
low complexity region	566	578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124531
AA Change: T133A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321
AA Change: T133A

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	302	344	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184428
AA Change: T133A

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

SMART Domains

Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321
AA Change: T133A

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	302	344	1e-3	SMART
low complexity region	438	445	N/A	INTRINSIC
low complexity region	566	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203044

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 68,152,796 (GRCm39)	D657E	probably damaging	Het
Cd200l1	A	T	16: 45,264,483 (GRCm39)	L25Q	probably damaging	Het
Cd68	T	C	11: 69,556,676 (GRCm39)	T44A	probably damaging	Het
Cecr2	C	T	6: 120,733,678 (GRCm39)	T555M	probably damaging	Het
Cep170b	A	G	12: 112,701,628 (GRCm39)	Q169R	probably damaging	Het
Cs	T	C	10: 128,195,912 (GRCm39)	F374L	probably damaging	Het
Dpy19l1	T	C	9: 24,393,226 (GRCm39)	E181G	probably damaging	Het
Esr2	G	A	12: 76,180,653 (GRCm39)	R423W	probably damaging	Het
Eya4	T	C	10: 23,034,995 (GRCm39)	Y120C	probably benign	Het
Fbxw8	A	G	5: 118,206,202 (GRCm39)	M582T	probably benign	Het
Fcgbpl1	A	T	7: 27,863,953 (GRCm39)	D2575V	probably damaging	Het
Ghsr	A	G	3: 27,426,532 (GRCm39)	E196G	possibly damaging	Het
Gm10024	G	A	10: 77,547,295 (GRCm39)		probably benign	Het
Gpr65	A	G	12: 98,241,815 (GRCm39)	E156G	probably damaging	Het
Gtf3c3	T	C	1: 54,466,694 (GRCm39)	Y249C	possibly damaging	Het
H2-T23	G	A	17: 36,342,673 (GRCm39)	A155V	probably damaging	Het
Hadha	A	G	5: 30,327,171 (GRCm39)	S556P	probably benign	Het
Hdac7	T	A	15: 97,707,376 (GRCm39)	K187N	probably damaging	Het
Inpp5j	T	C	11: 3,452,255 (GRCm39)	I332V	probably benign	Het
Kank1	A	G	19: 25,407,600 (GRCm39)	D1198G	probably benign	Het
Kdr	A	G	5: 76,129,410 (GRCm39)	L159P	probably damaging	Het
Me2	T	C	18: 73,903,713 (GRCm39)	E585G	probably benign	Het
Nfu1	A	T	6: 86,992,577 (GRCm39)	T64S	probably damaging	Het
Nsd3	A	G	8: 26,166,728 (GRCm39)	D632G	probably benign	Het
Pcna	T	C	2: 132,093,852 (GRCm39)	D97G	probably benign	Het
Pgm2	A	G	5: 64,265,612 (GRCm39)		probably benign	Het
Phactr1	C	A	13: 43,110,122 (GRCm39)	R2S	probably damaging	Het
Psmd11	T	A	11: 80,361,210 (GRCm39)	I347N	possibly damaging	Het
Rad21l	T	C	2: 151,495,436 (GRCm39)	T416A	probably benign	Het
Ruvbl2	A	T	7: 45,074,596 (GRCm39)	S181T	probably benign	Het
Rxrb	A	G	17: 34,253,049 (GRCm39)	T109A	probably damaging	Het
Ryr3	T	A	2: 112,490,494 (GRCm39)	Y3785F	probably damaging	Het
Sec16a	T	C	2: 26,320,113 (GRCm39)	T1442A	probably benign	Het
Slc6a14	T	A	X: 21,600,363 (GRCm39)		probably benign	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Tent5c	A	G	3: 100,380,672 (GRCm39)	V28A	probably damaging	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Trav13-2	T	C	14: 53,872,688 (GRCm39)	F55L	possibly damaging	Het
Tst	A	T	15: 78,289,661 (GRCm39)	S125T	probably damaging	Het
Ttn	T	C	2: 76,630,868 (GRCm39)	T14179A	probably benign	Het
Vps37b	A	G	5: 124,148,850 (GRCm39)	Y62H	probably damaging	Het

Other mutations in Efcab12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02748:Efcab12	APN	6	115,797,063 (GRCm39)	missense	probably damaging	0.97
IGL03148:Efcab12	APN	6	115,787,952 (GRCm39)	missense	probably damaging	1.00
R0218:Efcab12	UTSW	6	115,791,611 (GRCm39)	splice site	probably benign
R0366:Efcab12	UTSW	6	115,800,209 (GRCm39)	splice site	probably benign
R2847:Efcab12	UTSW	6	115,788,072 (GRCm39)	missense	probably damaging	0.97
R4674:Efcab12	UTSW	6	115,800,610 (GRCm39)	missense	probably damaging	0.99
R4707:Efcab12	UTSW	6	115,791,510 (GRCm39)	missense	possibly damaging	0.87
R5145:Efcab12	UTSW	6	115,800,238 (GRCm39)	missense	probably damaging	0.98
R5185:Efcab12	UTSW	6	115,800,451 (GRCm39)	missense	probably benign	0.00
R6168:Efcab12	UTSW	6	115,791,577 (GRCm39)	missense	probably damaging	0.97
R6960:Efcab12	UTSW	6	115,815,273 (GRCm39)	unclassified	probably benign
R7187:Efcab12	UTSW	6	115,800,474 (GRCm39)	missense	not run
R7297:Efcab12	UTSW	6	115,787,997 (GRCm39)	missense	possibly damaging	0.85
R7324:Efcab12	UTSW	6	115,800,555 (GRCm39)	missense	probably benign	0.30
R7715:Efcab12	UTSW	6	115,800,504 (GRCm39)	missense	possibly damaging	0.85
R7996:Efcab12	UTSW	6	115,800,378 (GRCm39)	missense	probably benign	0.30
R8418:Efcab12	UTSW	6	115,799,076 (GRCm39)	critical splice donor site	probably null
R8527:Efcab12	UTSW	6	115,791,535 (GRCm39)	missense	probably benign	0.02
R8923:Efcab12	UTSW	6	115,787,982 (GRCm39)	missense	possibly damaging	0.58
R8924:Efcab12	UTSW	6	115,800,664 (GRCm39)	missense	probably benign	0.00
R9364:Efcab12	UTSW	6	115,814,975 (GRCm39)	missense	probably benign	0.00
R9433:Efcab12	UTSW	6	115,792,995 (GRCm39)	missense	probably benign	0.03
R9762:Efcab12	UTSW	6	115,800,331 (GRCm39)	missense	possibly damaging	0.72

Posted On

2015-08-05