Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01964:Efr3b'

181510

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 #

IGL01964

Quality Score

Status

Chromosome

Chromosomal Location

4012554-4088915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4032928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 143 (L143Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151788 (fasta)

Gene Model

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

AlphaFold

Q6ZQ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000111178
AA Change: L259Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: L259Q

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 damaging
Transcript: ENSMUST00000218166
AA Change: L143Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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
Adam34l	A	C	8: 44,079,798 (GRCm39)	I142S	probably benign	Het
Aknad1	T	C	3: 108,685,593 (GRCm39)	V579A	probably benign	Het
Ankrd11	A	G	8: 123,616,475 (GRCm39)	I2438T	probably damaging	Het
Cdh11	A	G	8: 103,391,375 (GRCm39)	V287A	probably benign	Het
Cdyl2	G	A	8: 117,350,768 (GRCm39)	S121L	probably benign	Het
Cyp2e1	A	T	7: 140,343,779 (GRCm39)	I6F	probably damaging	Het
Cyp3a16	A	T	5: 145,392,372 (GRCm39)	D194E	probably benign	Het
Eapp	G	T	12: 54,732,720 (GRCm39)	P126Q	probably damaging	Het
Grin2c	C	T	11: 115,144,673 (GRCm39)	E618K	probably damaging	Het
Haus3	A	T	5: 34,323,405 (GRCm39)	Y402N	probably benign	Het
Iffo1	A	G	6: 125,128,364 (GRCm39)	D316G	probably damaging	Het
Kctd19	A	T	8: 106,115,157 (GRCm39)	M468K	probably damaging	Het
Kdm4b	T	A	17: 56,696,256 (GRCm39)		probably null	Het
Naip6	T	A	13: 100,435,238 (GRCm39)		probably benign	Het
Or5k15	A	T	16: 58,709,827 (GRCm39)	I252K	probably damaging	Het
Polr3c	T	C	3: 96,619,291 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,938,036 (GRCm39)	E60V	probably damaging	Het
Rnd2	T	C	11: 101,361,632 (GRCm39)		probably null	Het
Rufy3	A	G	5: 88,762,929 (GRCm39)	Q153R	probably damaging	Het
Shank1	T	A	7: 43,975,102 (GRCm39)	I399N	unknown	Het
Sin3a	T	C	9: 57,014,631 (GRCm39)		probably benign	Het
Sppl2b	T	A	10: 80,701,220 (GRCm39)		probably null	Het
Srgap1	G	A	10: 121,640,871 (GRCm39)	P665L	possibly damaging	Het
Srgap2	G	T	1: 131,217,316 (GRCm39)	Q999K	probably benign	Het
Tbxas1	G	A	6: 39,060,748 (GRCm39)	V496I	probably benign	Het
Vmn1r198	A	G	13: 22,538,576 (GRCm39)	M21V	probably benign	Het
Wdr90	T	C	17: 26,067,383 (GRCm39)	I1479V	probably benign	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
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
IGL02373: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

2014-05-07