Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Efr3b'

662060

Institutional Source

Beutler Lab

Gene Symbol

Efr3b

Ensembl Gene

ENSMUSG00000020658

Gene Name

EFR3 homolog B

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3962554-4038915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4000886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 26 (D26E)

Ref Sequence

ENSEMBL: ENSMUSP00000106809 (fasta)

Gene Model

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

AlphaFold

Q6ZQ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000111178
AA Change: D26E

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

SMART Domains

Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: D26E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	T	9: 103,259,428	A525T	probably benign	Het
Adam25	A	G	8: 40,755,484	T596A	probably benign	Het
Adamts6	A	G	13: 104,313,699	I303V	probably damaging	Het
Alpl	A	T	4: 137,743,801	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,988,128	R939H	probably damaging	Het
Ccdc114	A	G	7: 45,947,692	T456A	probably benign	Het
Cd22	G	A	7: 30,870,069	R541C	probably benign	Het
Cenpf	A	T	1: 189,659,604	M660K	probably benign	Het
Cmya5	A	T	13: 93,095,380	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,421,987	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651	T331M	unknown	Het
Dgka	A	G	10: 128,733,093	M201T	probably benign	Het
Dnajc13	T	C	9: 104,170,805	I1804V	probably benign	Het
Dym	T	A	18: 75,286,683	Y642N	probably damaging	Het
Emilin1	A	T	5: 30,917,696	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,977,234	L56S	probably benign	Het
Fbxo18	C	T	2: 11,755,658	V694I	probably benign	Het
Fgd2	C	T	17: 29,379,023	T644I	probably benign	Het
G6pc	T	G	11: 101,374,707		probably null	Het
Gli2	A	G	1: 118,836,687	S1245P	probably benign	Het
Gm10696	T	C	3: 94,176,120	D128G	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Ighv1-84	T	C	12: 115,980,904	D50G	probably benign	Het
Impdh1	C	A	6: 29,216,215		probably benign	Het
Irf4	A	T	13: 30,761,450	D393V	possibly damaging	Het
Kalrn	A	G	16: 34,360,935	L111P	probably damaging	Het
Lrch3	T	C	16: 32,981,853	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,732,781	T394I	probably damaging	Het
Map4k1	A	G	7: 28,994,073	T434A	probably benign	Het
Mcur1	G	A	13: 43,541,717	T327M	probably damaging	Het
Mettl7b	A	T	10: 128,960,607	M111K	possibly damaging	Het
Myo9b	G	T	8: 71,334,322	S716I	probably benign	Het
Nol10	T	A	12: 17,369,771		probably benign	Het
Nos3	A	G	5: 24,368,843	T202A	possibly damaging	Het
Olfr128	T	C	17: 37,924,277	V237A	probably benign	Het
Olfr710	A	C	7: 106,944,698	M101R	probably benign	Het
Parp12	A	T	6: 39,117,922	S80T	probably benign	Het
Pde1a	C	T	2: 79,927,742	V50I	probably benign	Het
Pfkl	A	T	10: 77,997,522		probably null	Het
Phkg1	A	T	5: 129,866,215	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,658,529	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,311,993	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,244,691	S73P	probably damaging	Het
Polr2b	T	C	5: 77,335,663	V662A	probably damaging	Het
Prss43	C	T	9: 110,829,426	R265C	possibly damaging	Het
Rap1b	A	T	10: 117,822,841	V29D	probably damaging	Het
Rraga	A	G	4: 86,576,811	E298G	probably damaging	Het
Rrp8	A	T	7: 105,733,574	I418N	probably damaging	Het
Siglecf	T	C	7: 43,355,606	V420A	probably benign	Het
Snx14	T	A	9: 88,415,693	N174I	probably damaging	Het
Speer4e	T	C	5: 14,934,115	N229S	probably benign	Het
Teddm3	A	G	16: 21,152,935	*295Q	probably null	Het
Tfap2c	A	G	2: 172,552,006	D245G	possibly damaging	Het
Tfap2d	A	G	1: 19,108,284	N191S	probably benign	Het
Unc80	A	G	1: 66,612,268	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,872,691	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,389	S3823R	probably damaging	Het
Wiz	T	A	17: 32,367,847	D163V	probably damaging	Het
Xylt1	G	C	7: 117,381,359	A61P	unknown	Het
Zfp521	A	C	18: 13,845,644	F571V	probably damaging	Het
Zfp664	T	A	5: 124,886,069	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,287,453	N264D	probably benign	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
IGL02253:Efr3b	APN	12	3983391	missense	probably benign	0.40
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
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

Predicted Primers

PCR Primer
(F):5'- AGGATGTGTCAACTGTATGGC -3'
(R):5'- ACTTGGCACTTGGGAATCATCC -3'

Sequencing Primer
(F):5'- GCAGCAGCCTAGCATATTCC -3'
(R):5'- CTCTCTCCTGGGAAGAACAAGG -3'

Posted On

2021-03-08