Mutagenetix > Incidental Mutation

Incidental Mutation 'R8527:Efcab12'

658854

Institutional Source

Beutler Lab

Gene Symbol

Efcab12

Ensembl Gene

ENSMUSG00000030321

Gene Name

EF-hand calcium binding domain 12

Synonyms

BC060267

MMRRC Submission

067952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115787695-115815177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115791535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 546 (I546V)

Ref Sequence

ENSEMBL: ENSMUSP00000139144 (fasta)

Gene Model

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

AlphaFold

V9GXH0

Predicted Effect

probably benign
Transcript: ENSMUST00000032468
AA Change: I546V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321
AA Change: I546V

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

SMART Domains

Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184428
AA Change: I546V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321
AA Change: I546V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Arhgef12	A	T	9: 42,908,944 (GRCm39)	L661Q	possibly damaging	Het
Atf7ip2	T	A	16: 10,055,129 (GRCm39)		probably benign	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Ceacam2	T	A	7: 25,238,155 (GRCm39)	I90L	probably benign	Het
Dgcr6	T	C	16: 17,887,390 (GRCm39)		probably null	Het
Eya1	G	T	1: 14,322,672 (GRCm39)	A268E	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Gas6	T	C	8: 13,515,790 (GRCm39)	I661V	probably damaging	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm12689	A	G	4: 99,184,450 (GRCm39)	D101G	unknown	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Lca5l	C	A	16: 95,960,438 (GRCm39)	G675C	probably damaging	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Lonrf1	G	T	8: 36,686,986 (GRCm39)	N783K	possibly damaging	Het
Megf10	T	C	18: 57,425,790 (GRCm39)	S1059P	probably benign	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Myh11	T	C	16: 14,048,570 (GRCm39)	H586R	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Rasgrp1	A	T	2: 117,168,785 (GRCm39)	D64E	probably benign	Het
Rb1cc1	T	A	1: 6,315,099 (GRCm39)	N417K	probably damaging	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Scn3a	G	T	2: 65,327,863 (GRCm39)	H876N	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Smarca2	G	C	19: 26,654,187 (GRCm39)	V791L	probably damaging	Het
Smc4	T	A	3: 68,940,224 (GRCm39)		probably null	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tex52	G	A	6: 128,356,828 (GRCm39)	V174I	probably benign	Het
Tjp2	C	A	19: 24,088,937 (GRCm39)	G660W	probably damaging	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Tnxb	A	G	17: 34,907,634 (GRCm39)	E1226G	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zan	T	C	5: 137,433,971 (GRCm39)	E2254G	unknown	Het

Other mutations in Efcab12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Efcab12	APN	6	115,800,625 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGAGGGTGACATTTTGGAC -3'
(R):5'- TTGCCACTCTACCTGCCAAG -3'

Sequencing Primer
(F):5'- TGGCCAGCCAGAAGTGAC -3'
(R):5'- AAGCCATCTTGATAGCTCAGAG -3'

Posted On

2021-01-18