Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Efr3b'

225114

Institutional Source

Beutler Lab

Gene Symbol

Efr3b

Ensembl Gene

ENSMUSG00000020658

Gene Name

EFR3 homolog B

Synonyms

C030014M07Rik

MMRRC Submission

040049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2042 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

4012554-4088915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4034627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 65 (D65V)

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: D181V

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

SMART Domains

Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: D181V

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: D65V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220181

Meta Mutation Damage Score

0.6735

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCAAGCTAGGTGTGTTCC -3'
(R):5'- ATGGATCTCATAGCTCGCCTC -3'

Sequencing Primer
(F):5'- CCAAGCTAGGTGTGTTCCAGGAG -3'
(R):5'- GCCCACTAGGTACACAAGGG -3'

Posted On

2014-08-25