Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02373:Efr3b'

290998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efr3b

Ensembl Gene

ENSMUSG00000020658

Gene Name

EFR3 homolog B

Synonyms

C030014M07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02373

Quality Score

Status

Chromosome

Chromosomal Location

4012554-4088915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4033391 bp (GRCm39)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,168,042 (GRCm39)	L462F	probably damaging	Het
Adgrv1	T	C	13: 81,607,832 (GRCm39)	D4080G	possibly damaging	Het
Apc	A	C	18: 34,449,212 (GRCm39)	D2002A	probably damaging	Het
Apobr	T	A	7: 126,184,563 (GRCm39)	F25I	probably damaging	Het
Cyp4a10	T	A	4: 115,378,274 (GRCm39)	L120*	probably null	Het
Daam2	A	G	17: 49,780,408 (GRCm39)	S704P	probably damaging	Het
Dcst1	G	T	3: 89,265,198 (GRCm39)	N217K	probably damaging	Het
Fmn1	C	A	2: 113,194,471 (GRCm39)	P57Q	unknown	Het
Galnt1	G	A	18: 24,413,092 (GRCm39)	G464D	possibly damaging	Het
Ggcx	T	A	6: 72,404,902 (GRCm39)	W437R	probably damaging	Het
Igkv13-54-1	T	C	6: 69,594,304 (GRCm39)		noncoding transcript	Het
Iglon5	T	C	7: 43,128,643 (GRCm39)	E58G	probably benign	Het
Met	C	T	6: 17,491,528 (GRCm39)	P97S	probably damaging	Het
Msantd5f6	T	C	4: 73,321,880 (GRCm39)	M52V	probably benign	Het
Myg1	T	A	15: 102,245,268 (GRCm39)	M158K	probably damaging	Het
Ncald	T	A	15: 37,372,453 (GRCm39)	M131L	probably benign	Het
Nipa2	T	C	7: 55,582,876 (GRCm39)	I290V	probably benign	Het
Or4f14b	C	A	2: 111,775,178 (GRCm39)	V208L	probably benign	Het
Or5p79	A	T	7: 108,221,310 (GRCm39)	Y97F	probably benign	Het
Or6c219	A	G	10: 129,781,334 (GRCm39)	L84S	probably benign	Het
Ppfia3	C	T	7: 45,008,273 (GRCm39)	R48Q	probably damaging	Het
Rab12	A	G	17: 66,805,060 (GRCm39)	L156P	probably damaging	Het
Slc28a3	C	T	13: 58,726,218 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,526,818 (GRCm39)	N770S	probably benign	Het
Tanc1	T	C	2: 59,626,372 (GRCm39)		probably null	Het
Vmn2r130	A	T	17: 23,295,866 (GRCm39)	R679*	probably null	Het
Vwa5b2	G	A	16: 20,423,594 (GRCm39)	R1169H	probably damaging	Het

Other mutations in Efr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Efr3b	APN	12	4,025,411 (GRCm39)	nonsense	probably null
IGL01288:Efr3b	APN	12	4,032,865 (GRCm39)	missense	probably damaging	1.00
IGL01467:Efr3b	APN	12	4,019,597 (GRCm39)	missense	probably damaging	0.98
IGL01964:Efr3b	APN	12	4,032,928 (GRCm39)	missense	probably damaging	1.00
IGL02253:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02329:Efr3b	APN	12	4,042,923 (GRCm39)	splice site	probably null
IGL02365:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02390:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02392:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02494:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02496:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02501:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02529:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02530:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02532:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02699:Efr3b	APN	12	4,033,391 (GRCm39)	missense	probably benign	0.40
IGL02716:Efr3b	APN	12	4,034,627 (GRCm39)	missense	probably damaging	1.00
IGL02904:Efr3b	APN	12	4,034,583 (GRCm39)	missense	probably damaging	0.99
IGL02986:Efr3b	APN	12	4,016,495 (GRCm39)	missense	probably benign	0.13
IGL03171:Efr3b	APN	12	4,018,622 (GRCm39)	missense	probably benign	0.00
IGL03346:Efr3b	APN	12	4,034,648 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Efr3b	UTSW	12	4,030,490 (GRCm39)	missense	possibly damaging	0.64
R0017:Efr3b	UTSW	12	4,043,003 (GRCm39)	missense	probably damaging	0.98
R0189:Efr3b	UTSW	12	4,032,925 (GRCm39)	missense	probably damaging	1.00
R0361:Efr3b	UTSW	12	4,027,923 (GRCm39)	missense	probably benign	0.00
R0469:Efr3b	UTSW	12	4,032,058 (GRCm39)	missense	probably benign	0.02
R0510:Efr3b	UTSW	12	4,032,058 (GRCm39)	missense	probably benign	0.02
R0782:Efr3b	UTSW	12	4,034,686 (GRCm39)	splice site	probably benign
R2042:Efr3b	UTSW	12	4,034,627 (GRCm39)	missense	probably damaging	1.00
R2359:Efr3b	UTSW	12	4,030,136 (GRCm39)	unclassified	probably benign
R3691:Efr3b	UTSW	12	4,032,059 (GRCm39)	missense	possibly damaging	0.84
R3849:Efr3b	UTSW	12	4,033,414 (GRCm39)	missense	probably benign	0.40
R5384:Efr3b	UTSW	12	4,033,419 (GRCm39)	missense	probably benign	0.04
R5819:Efr3b	UTSW	12	4,042,965 (GRCm39)	missense	probably benign	0.21
R5970:Efr3b	UTSW	12	4,018,590 (GRCm39)	missense	possibly damaging	0.93
R6031:Efr3b	UTSW	12	4,017,106 (GRCm39)	missense	possibly damaging	0.90
R6031:Efr3b	UTSW	12	4,017,106 (GRCm39)	missense	possibly damaging	0.90
R6759:Efr3b	UTSW	12	4,034,613 (GRCm39)	missense	probably damaging	1.00
R6969:Efr3b	UTSW	12	4,018,624 (GRCm39)	missense	probably benign	0.08
R7392:Efr3b	UTSW	12	4,019,588 (GRCm39)	missense	probably benign
R7717:Efr3b	UTSW	12	4,034,574 (GRCm39)	missense	probably damaging	1.00
R8071:Efr3b	UTSW	12	4,032,898 (GRCm39)	missense	probably benign	0.02
R8686:Efr3b	UTSW	12	4,050,886 (GRCm39)	missense	probably damaging	1.00
R8737:Efr3b	UTSW	12	4,049,594 (GRCm39)	missense	probably damaging	1.00
R8942:Efr3b	UTSW	12	4,032,091 (GRCm39)	missense	possibly damaging	0.74
R9105:Efr3b	UTSW	12	4,031,782 (GRCm39)	missense	probably damaging	1.00
R9345:Efr3b	UTSW	12	4,033,409 (GRCm39)	nonsense	probably null

Posted On

2015-04-16