Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02529:Efr3b'

297247

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efr3b

Ensembl Gene

ENSMUSG00000020658

Gene Name

EFR3 homolog B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02529

Quality Score

Status

Chromosome

Chromosomal Location

3962554-4038915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3983391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 139 (V139I)

Ref Sequence

ENSEMBL: ENSMUSP00000151788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111178] [ENSMUST00000218166]

AlphaFold

Q6ZQ18

Predicted Effect

probably benign
Transcript: ENSMUST00000111178
AA Change: V255I

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: V255I

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	55	306	1e-3	SMART
low complexity region	591	602	N/A	INTRINSIC
low complexity region	736	749	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217677

Predicted Effect

probably benign
Transcript: ENSMUST00000218166
AA Change: V139I

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220181

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,233	H925L	probably benign	Het
Agpat5	T	A	8: 18,881,754	Y297N	possibly damaging	Het
Apobec3	C	T	15: 79,897,687		probably benign	Het
Atpaf1	C	A	4: 115,791,269	A161E	probably damaging	Het
Bnc1	A	T	7: 81,977,368	D91E	probably damaging	Het
Capg	G	A	6: 72,555,846	V98I	probably benign	Het
Ccdc7b	C	T	8: 129,178,225	L115F	possibly damaging	Het
Ces2a	T	A	8: 104,737,219		probably benign	Het
Cldn6	T	G	17: 23,681,317	V85G	probably damaging	Het
Clec2e	T	C	6: 129,098,496		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhx38	T	C	8: 109,559,013	E396G	probably benign	Het
Dock8	A	T	19: 25,100,926	K532*	probably null	Het
Gmip	G	A	8: 69,816,789	G537E	probably damaging	Het
Hacd1	T	C	2: 14,045,202	H64R	probably damaging	Het
Hdac3	G	T	18: 37,944,132	Q230K	probably benign	Het
Htt	C	T	5: 34,819,043		probably benign	Het
Il18r1	A	G	1: 40,487,059	D255G	possibly damaging	Het
Krt82	T	A	15: 101,550,396	R70*	probably null	Het
Krt9	G	T	11: 100,189,966	H353Q	probably damaging	Het
Kyat3	T	C	3: 142,720,474	I57T	probably benign	Het
L1td1	A	G	4: 98,737,421	K618E	probably benign	Het
Limch1	C	A	5: 67,002,613	N617K	possibly damaging	Het
Lsm8	T	C	6: 18,851,652	F34S	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Mmrn2	C	A	14: 34,398,613	A480E	possibly damaging	Het
Mthfd1	A	G	12: 76,303,709	I474V	probably benign	Het
Mycl	A	G	4: 122,996,977	K152R	probably damaging	Het
Numa1	A	G	7: 101,999,953		probably null	Het
Olfr474	G	T	7: 107,955,216	V192F	possibly damaging	Het
Otog	A	C	7: 46,259,957	D617A	probably damaging	Het
Ppef2	A	G	5: 92,244,737	I267T	probably damaging	Het
Ptprq	A	G	10: 107,635,365	Y1392H	probably benign	Het
Rasgrp3	G	T	17: 75,525,102	K639N	possibly damaging	Het
Rgs19	C	T	2: 181,689,150	R203H	probably benign	Het
Scnn1g	C	A	7: 121,742,446		probably benign	Het
Tmem181b-ps	T	C	17: 6,466,921		noncoding transcript	Het
Vmn2r118	A	G	17: 55,610,870	V214A	possibly damaging	Het
Zfp811	T	C	17: 32,797,815	Y417C	probably damaging	Het

Other mutations in Efr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Efr3b	APN	12	3975411	nonsense	probably null
IGL01288:Efr3b	APN	12	3982865	missense	probably damaging	1.00
IGL01467:Efr3b	APN	12	3969597	missense	probably damaging	0.98
IGL01964:Efr3b	APN	12	3982928	missense	probably damaging	1.00
IGL02253:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02329:Efr3b	APN	12	3992923	splice site	probably null
IGL02365:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02373:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02390:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02392:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02494:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02496:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02501:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02530:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02532:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02699:Efr3b	APN	12	3983391	missense	probably benign	0.40
IGL02716:Efr3b	APN	12	3984627	missense	probably damaging	1.00
IGL02904:Efr3b	APN	12	3984583	missense	probably damaging	0.99
IGL02986:Efr3b	APN	12	3966495	missense	probably benign	0.13
IGL03171:Efr3b	APN	12	3968622	missense	probably benign	0.00
IGL03346:Efr3b	APN	12	3984648	missense	probably damaging	1.00
PIT4418001:Efr3b	UTSW	12	3980490	missense	possibly damaging	0.64
R0017:Efr3b	UTSW	12	3993003	missense	probably damaging	0.98
R0189:Efr3b	UTSW	12	3982925	missense	probably damaging	1.00
R0361:Efr3b	UTSW	12	3977923	missense	probably benign	0.00
R0469:Efr3b	UTSW	12	3982058	missense	probably benign	0.02
R0510:Efr3b	UTSW	12	3982058	missense	probably benign	0.02
R0782:Efr3b	UTSW	12	3984686	splice site	probably benign
R2042:Efr3b	UTSW	12	3984627	missense	probably damaging	1.00
R2359:Efr3b	UTSW	12	3980136	unclassified	probably benign
R3691:Efr3b	UTSW	12	3982059	missense	possibly damaging	0.84
R3849:Efr3b	UTSW	12	3983414	missense	probably benign	0.40
R5384:Efr3b	UTSW	12	3983419	missense	probably benign	0.04
R5819:Efr3b	UTSW	12	3992965	missense	probably benign	0.21
R5970:Efr3b	UTSW	12	3968590	missense	possibly damaging	0.93
R6031:Efr3b	UTSW	12	3967106	missense	possibly damaging	0.90
R6031:Efr3b	UTSW	12	3967106	missense	possibly damaging	0.90
R6759:Efr3b	UTSW	12	3984613	missense	probably damaging	1.00
R6969:Efr3b	UTSW	12	3968624	missense	probably benign	0.08
R7392:Efr3b	UTSW	12	3969588	missense	probably benign
R7717:Efr3b	UTSW	12	3984574	missense	probably damaging	1.00
R8071:Efr3b	UTSW	12	3982898	missense	probably benign	0.02
R8686:Efr3b	UTSW	12	4000886	missense	probably damaging	1.00
R8737:Efr3b	UTSW	12	3999594	missense	probably damaging	1.00
R8942:Efr3b	UTSW	12	3982091	missense	possibly damaging	0.74
R9105:Efr3b	UTSW	12	3981782	missense	probably damaging	1.00
R9345:Efr3b	UTSW	12	3983409	nonsense	probably null

Posted On

2015-04-16