Mutagenetix > Incidental Mutation

Incidental Mutation 'R9105:Efr3b'

691975

Institutional Source

Beutler Lab

Gene Symbol

Efr3b

Ensembl Gene

ENSMUSG00000020658

Gene Name

EFR3 homolog B

Synonyms

C030014M07Rik

MMRRC Submission

068917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4012554-4088915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4031782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 340 (L340Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106809 (fasta)

Gene Model

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

AlphaFold

Q6ZQ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000111178
AA Change: L340Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: L340Q

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

probably damaging
Transcript: ENSMUST00000218166
AA Change: L224Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,439,407 (GRCm39)	K139*	probably null	Het
Acsl5	A	T	19: 55,269,002 (GRCm39)	K221I	probably benign	Het
Actrt2	G	A	4: 154,751,677 (GRCm39)	T153I	probably damaging	Het
Adam34	C	T	8: 44,103,785 (GRCm39)	C620Y	probably damaging	Het
Adgrl2	T	C	3: 148,543,289 (GRCm39)	K812E	possibly damaging	Het
Aig1	T	C	10: 13,529,339 (GRCm39)	T224A	probably benign	Het
Apbb2	G	T	5: 66,460,015 (GRCm39)	S694*	probably null	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Bcl3	T	A	7: 19,543,175 (GRCm39)	I352F	probably damaging	Het
Btbd19	C	T	4: 116,977,961 (GRCm39)	R276Q	probably damaging	Het
Btnl9	G	A	11: 49,066,461 (GRCm39)	P368S	probably benign	Het
Calhm5	A	G	10: 33,968,144 (GRCm39)	V303A	probably benign	Het
Ccdc97	T	C	7: 25,412,537 (GRCm39)	T302A	probably benign	Het
Cdh11	T	C	8: 103,360,968 (GRCm39)	D790G	probably damaging	Het
Cep350	T	C	1: 155,835,561 (GRCm39)	N45S	probably damaging	Het
Col5a2	T	A	1: 45,419,366 (GRCm39)	Y1238F	probably benign	Het
Ctdspl2	C	T	2: 121,837,351 (GRCm39)	L373F	probably damaging	Het
Dolpp1	A	T	2: 30,289,152 (GRCm39)		probably null	Het
Ehd4	T	C	2: 119,932,760 (GRCm39)	N222S	probably damaging	Het
Fgf8	A	C	19: 45,730,490 (GRCm39)		probably benign	Het
Frmd4a	A	G	2: 4,539,994 (GRCm39)	I205V	probably damaging	Het
G6pc3	C	T	11: 102,084,403 (GRCm39)	A271V	probably benign	Het
Gab1	T	C	8: 81,515,589 (GRCm39)	D243G	probably damaging	Het
Gbp9	A	G	5: 105,241,942 (GRCm39)	I205T	probably benign	Het
Gtf2b	T	A	3: 142,489,050 (GRCm39)	F304Y	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ip6k3	A	G	17: 27,364,169 (GRCm39)	L293P	probably damaging	Het
Itgb7	A	G	15: 102,135,904 (GRCm39)	S44P	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lancl1	T	A	1: 67,043,962 (GRCm39)	Y346F	possibly damaging	Het
Lca5l	T	G	16: 95,960,671 (GRCm39)	E602A	probably damaging	Het
Lcor	G	A	19: 41,573,311 (GRCm39)	A689T	possibly damaging	Het
Lrp1b	A	G	2: 41,396,803 (GRCm39)	V421A		Het
Lrrtm3	A	G	10: 63,924,336 (GRCm39)	V277A	possibly damaging	Het
Lypla1	T	C	1: 4,911,282 (GRCm39)	L189P	probably damaging	Het
Msantd3	A	T	4: 48,560,963 (GRCm39)	N180Y	possibly damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Myo19	T	C	11: 84,794,029 (GRCm39)	I651T	probably damaging	Het
Ndst2	T	C	14: 20,780,070 (GRCm39)	S57G	probably benign	Het
Or12d16-ps1	C	T	17: 37,705,731 (GRCm39)	T100I	probably benign	Het
Or1j14	A	G	2: 36,418,294 (GRCm39)	Y290C	probably damaging	Het
Or4c117	C	T	2: 88,955,995 (GRCm39)	V27I	probably benign	Het
Or6p1	T	A	1: 174,258,861 (GRCm39)	I289N	probably damaging	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	T	A	15: 79,183,397 (GRCm39)		probably null	Het
Pnrc1	C	A	4: 33,246,207 (GRCm39)	G251*	probably null	Het
Pramel14	A	T	4: 143,718,595 (GRCm39)		probably benign	Het
Psg17	A	T	7: 18,555,333 (GRCm39)	V3E	probably benign	Het
Psmb9	A	T	17: 34,401,905 (GRCm39)		probably benign	Het
Slc12a5	A	G	2: 164,838,114 (GRCm39)	T982A	probably benign	Het
Srrd	T	C	5: 112,485,465 (GRCm39)	D286G	possibly damaging	Het
Tcp10b	T	C	17: 13,285,236 (GRCm39)	S153P	probably benign	Het
Tmem131	C	A	1: 36,854,591 (GRCm39)	S886I	probably benign	Het
Ttk	T	A	9: 83,745,544 (GRCm39)	D630E	probably damaging	Het
Vnn3	T	C	10: 23,740,461 (GRCm39)	W255R	probably damaging	Het
Vps13c	T	G	9: 67,778,081 (GRCm39)		probably benign	Het
Wdfy3	T	C	5: 102,030,512 (GRCm39)	Q2332R	probably benign	Het
Xkr8	A	T	4: 132,459,648 (GRCm39)	Y43*	probably null	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
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
R9345:Efr3b	UTSW	12	4,033,409 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGATCCCTCAAGCCTCAATG -3'
(R):5'- GGAAGCTGCAATTATCGCTGC -3'

Sequencing Primer
(F):5'- TCAATGGCCCCTCCCAG -3'
(R):5'- TGCAATTATCGCTGCCACGG -3'

Posted On

2021-12-30