Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02253:Efr3b'

286513

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 #

IGL02253

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,207,959	E76G	probably benign	Het
Adamtsl2	A	T	2: 27,098,697	T587S	possibly damaging	Het
Adgre4	T	A	17: 55,760,573	M9K	probably benign	Het
Aff2	T	A	X: 69,830,791	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,544,284	S425*	probably null	Het
Cabcoco1	T	C	10: 68,436,277		probably null	Het
Calcr	T	A	6: 3,707,523	H259L	probably benign	Het
Cdc42bpa	T	A	1: 180,031,596		probably benign	Het
Cntnap5b	C	T	1: 100,164,211	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,938,237		probably benign	Het
Ddx3x	T	C	X: 13,284,968		probably benign	Het
Dnajc11	T	A	4: 151,950,519	Y28*	probably null	Het
Dock11	T	C	X: 36,041,128	F1472S	probably damaging	Het
Dusp18	T	C	11: 3,897,576	*189Q	probably null	Het
Dzip3	A	T	16: 48,944,924	Y476N	probably benign	Het
Evc2	T	A	5: 37,378,427		probably benign	Het
Fam151b	A	T	13: 92,477,927	Y18N	probably damaging	Het
Gk5	T	C	9: 96,137,771	F120S	probably damaging	Het
Gm17359	C	A	3: 79,449,434		probably benign	Het
Gm17359	C	A	3: 79,449,435		probably benign	Het
Kcna3	T	C	3: 107,037,411	L330P	probably damaging	Het
Kctd20	A	G	17: 28,961,486	N7S	probably benign	Het
Kmt2b	G	T	7: 30,581,727	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,858,175		probably benign	Het
L2hgdh	G	A	12: 69,705,760		probably benign	Het
Lifr	T	G	15: 7,190,604	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,470,065	V4E	probably benign	Het
Nrip3	A	C	7: 109,761,744		probably null	Het
Nsun2	T	G	13: 69,619,539	V204G	possibly damaging	Het
Nup54	A	G	5: 92,417,451		probably null	Het
Olfr494	T	A	7: 108,368,054	V188E	possibly damaging	Het
Olfr894	T	A	9: 38,219,735	M304K	probably benign	Het
Pdcl3	A	G	1: 38,994,930	D51G	probably benign	Het
Pdlim1	T	C	19: 40,230,530	E219G	probably damaging	Het
Pld4	A	C	12: 112,766,707	K239T	probably damaging	Het
Rgsl1	T	C	1: 153,793,767	Y291C	probably damaging	Het
Rnf213	C	A	11: 119,440,650	H2228Q	probably benign	Het
Rnf222	T	A	11: 68,893,036	I143N	probably damaging	Het
Sirt7	A	G	11: 120,620,867	I13T	probably benign	Het
Slfn10-ps	A	G	11: 83,029,064		noncoding transcript	Het
Slx4ip	T	C	2: 137,000,275		probably null	Het
Spata18	G	T	5: 73,668,596	S164I	possibly damaging	Het
Ssfa2	A	G	2: 79,660,444	T969A	probably damaging	Het
Stk26	T	C	X: 50,886,688	L212P	probably damaging	Het
Tmsb15a	T	C	X: 135,719,702	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,876,541	S150T	probably damaging	Het
Tubb3	T	C	8: 123,420,820	M164T	probably benign	Het
Zfp516	A	G	18: 82,994,497	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,183,695	V685G	probably null	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
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
IGL02529: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