Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Efr3b'

295863

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 #

IGL02496

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,327,712 (GRCm39)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,324,578 (GRCm39)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,078,512 (GRCm39)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,143,494 (GRCm39)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,919,552 (GRCm39)	S446A	probably benign	Het
Cd9	A	T	6: 125,449,458 (GRCm39)	V28E	probably damaging	Het
Cops2	A	T	2: 125,678,163 (GRCm39)		probably benign	Het
Csn1s1	C	T	5: 87,825,453 (GRCm39)		probably benign	Het
Cul9	G	T	17: 46,851,302 (GRCm39)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,126,640 (GRCm39)	H1457N	probably damaging	Het
Dennd2b	C	A	7: 109,155,442 (GRCm39)	R436L	possibly damaging	Het
Dnah9	A	G	11: 65,920,189 (GRCm39)	S2235P	probably damaging	Het
Fbxo10	A	T	4: 45,043,883 (GRCm39)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,684 (GRCm39)	V301L	probably damaging	Het
Hfm1	T	C	5: 107,049,627 (GRCm39)	S445G	probably benign	Het
Hif3a	A	G	7: 16,773,603 (GRCm39)		probably benign	Het
Hsd17b4	T	C	18: 50,288,220 (GRCm39)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,049,772 (GRCm39)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,703,671 (GRCm39)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,186,797 (GRCm39)	W128R	probably damaging	Het
Ism1	T	C	2: 139,599,121 (GRCm39)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,670,470 (GRCm39)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,755,439 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,654,042 (GRCm39)	R321G	probably damaging	Het
Msl2	T	C	9: 100,977,854 (GRCm39)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,351,684 (GRCm39)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,144,467 (GRCm39)		probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or13a18	A	C	7: 140,190,081 (GRCm39)	M1L	probably benign	Het
Or5b98	T	A	19: 12,931,556 (GRCm39)	I201N	possibly damaging	Het
Or6b1	A	C	6: 42,815,738 (GRCm39)	I308L	probably benign	Het
P4ha1	A	G	10: 59,206,824 (GRCm39)		probably null	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,507 (GRCm39)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,303,535 (GRCm39)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,489,147 (GRCm39)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,171,716 (GRCm39)	I103V	probably benign	Het
Plscr3	C	A	11: 69,738,209 (GRCm39)		probably benign	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,266,407 (GRCm39)	E48*	probably null	Het
Ptgir	G	A	7: 16,641,409 (GRCm39)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,901,070 (GRCm39)	V219E	probably benign	Het
Rab39b	T	A	X: 74,618,609 (GRCm39)	I74F	probably damaging	Het
Rasal2	A	T	1: 156,977,449 (GRCm39)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,750,885 (GRCm39)	A20T	probably null	Het
Serpinb10	A	C	1: 107,466,155 (GRCm39)		probably null	Het
Sipa1l1	T	A	12: 82,471,868 (GRCm39)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,528,468 (GRCm39)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,559,599 (GRCm39)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,659,247 (GRCm39)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,480 (GRCm39)	T542P	probably damaging	Het
Spats2	T	A	15: 99,071,329 (GRCm39)	I51N	probably damaging	Het
Spon1	G	T	7: 113,635,897 (GRCm39)	V704L	probably benign	Het
Tex9	T	A	9: 72,389,774 (GRCm39)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 115,919,486 (GRCm39)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,636,466 (GRCm39)	L247*	probably null	Het
Umodl1	G	T	17: 31,217,628 (GRCm39)	V1145F	probably damaging	Het
Vasp	C	A	7: 18,992,748 (GRCm39)		probably benign	Het
Vmn1r8	G	T	6: 57,013,556 (GRCm39)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,787,837 (GRCm39)	T505A	probably benign	Het
Wdr27	A	G	17: 15,112,693 (GRCm39)		probably benign	Het
Wfdc1	T	G	8: 120,406,909 (GRCm39)	V109G	probably damaging	Het
Zan	C	A	5: 137,463,056 (GRCm39)	E708*	probably null	Het
Zbtb1	T	A	12: 76,432,169 (GRCm39)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,648,117 (GRCm39)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,757,113 (GRCm39)	S349P	probably damaging	Het
Znfx1	A	T	2: 166,889,550 (GRCm39)	C731S	possibly 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
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
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