Mutagenetix > Incidental Mutation

Incidental Mutation 'R8942:Efr3b'

681059

Institutional Source

Beutler Lab

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 #

R8942 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4012554-4088915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4032091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 172 (H172Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151788 (fasta)

Gene Model

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

AlphaFold

Q6ZQ18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111178
AA Change: H288Q

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: H288Q

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

possibly damaging
Transcript: ENSMUST00000218166
AA Change: H172Q

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,732 (GRCm39)	D833E	probably damaging	Het
Adgrl3	A	T	5: 81,796,568 (GRCm39)	I626L	probably benign	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Atp2b2	G	T	6: 113,790,991 (GRCm39)	Q138K	probably benign	Het
Atp8b5	T	C	4: 43,353,658 (GRCm39)	F491L	probably damaging	Het
Bcap29	T	A	12: 31,684,353 (GRCm39)	M1L	probably damaging	Het
C1qtnf7	A	G	5: 43,773,583 (GRCm39)	D294G	probably benign	Het
Ccdc170	C	T	10: 4,484,044 (GRCm39)	A290V	probably benign	Het
Cfhr2	A	T	1: 139,741,292 (GRCm39)	L228I	probably benign	Het
Clip4	T	A	17: 72,170,768 (GRCm39)	V645D	probably benign	Het
Cyp4a31	C	T	4: 115,426,918 (GRCm39)	R173W	possibly damaging	Het
Dis3l	T	C	9: 64,214,875 (GRCm39)	K898R	probably benign	Het
Eipr1	A	T	12: 28,917,053 (GRCm39)	N374Y	probably damaging	Het
Exoc3l4	A	T	12: 111,392,002 (GRCm39)	E414D	possibly damaging	Het
Exoc3l4	G	T	12: 111,392,003 (GRCm39)	V415L	probably benign	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Gapvd1	T	C	2: 34,619,134 (GRCm39)	T80A	probably benign	Het
Gen1	A	G	12: 11,292,287 (GRCm39)	S501P	probably benign	Het
Gm10643	A	G	8: 84,790,799 (GRCm39)		probably benign	Het
Hecw1	A	T	13: 14,481,395 (GRCm39)	V445D	probably benign	Het
Hells	CT	C	19: 38,942,045 (GRCm39)		probably null	Het
Hnrnpr	T	G	4: 136,059,791 (GRCm39)	D197E	possibly damaging	Het
Hspb1	G	A	5: 135,916,928 (GRCm39)	V6M	probably damaging	Het
Iglon5	A	G	7: 43,126,315 (GRCm39)	V196A	probably benign	Het
Ints2	T	C	11: 86,103,720 (GRCm39)	T1142A	probably benign	Het
Katnip	T	G	7: 125,449,975 (GRCm39)	L1013R	probably damaging	Het
Kcnq2	T	A	2: 180,724,244 (GRCm39)	D587V	probably damaging	Het
Lmln	C	T	16: 32,901,330 (GRCm39)	P242L	probably damaging	Het
Mapt	G	A	11: 104,173,307 (GRCm39)		probably null	Het
Mrgpre	T	C	7: 143,335,002 (GRCm39)	Y167C		Het
Mtx2	A	T	2: 74,699,696 (GRCm39)	I156F	probably benign	Het
Nipbl	A	T	15: 8,381,104 (GRCm39)	S563T	probably benign	Het
Nmbr	C	T	10: 14,646,197 (GRCm39)	S357L	probably benign	Het
Or10ak14	A	T	4: 118,611,594 (GRCm39)	I49N	possibly damaging	Het
Or4e1	A	C	14: 52,700,692 (GRCm39)	I258S	probably damaging	Het
Or4f14	T	A	2: 111,743,207 (GRCm39)	I23F	probably benign	Het
Or4f60	T	C	2: 111,902,802 (GRCm39)	N42S	probably damaging	Het
Or4k15b	A	C	14: 50,272,602 (GRCm39)	L86R	probably damaging	Het
Or4p4	C	T	2: 88,483,308 (GRCm39)	L271F	possibly damaging	Het
Pctp	A	G	11: 89,875,554 (GRCm39)	M203T	possibly damaging	Het
Pip4k2c	A	G	10: 127,036,084 (GRCm39)	V261A	probably benign	Het
Pm20d1	G	T	1: 131,739,785 (GRCm39)	V378F	possibly damaging	Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Pramel26	T	C	4: 143,536,861 (GRCm39)	N490S	probably benign	Het
Sdk1	A	G	5: 142,082,598 (GRCm39)	E1332G	probably damaging	Het
Sgce	G	T	6: 4,730,027 (GRCm39)	L66M	probably benign	Het
Sycp2l	G	T	13: 41,277,522 (GRCm39)		probably null	Het
Tars1	G	T	15: 11,384,183 (GRCm39)	H695N	probably benign	Het
Tdo2	A	G	3: 81,876,851 (GRCm39)	V107A	probably benign	Het
Tmem131l	A	T	3: 83,805,793 (GRCm39)	M1550K	possibly damaging	Het
Ttf2	A	C	3: 100,869,042 (GRCm39)	S431R	probably benign	Het
Unc80	A	G	1: 66,512,468 (GRCm39)	D126G	possibly damaging	Het
Usp17lb	C	T	7: 104,490,583 (GRCm39)	V115I	possibly damaging	Het
Vezf1	A	G	11: 87,972,553 (GRCm39)	T305A	probably benign	Het
Vmn1r45	A	T	6: 89,910,876 (GRCm39)	N31K	probably benign	Het
Wdr59	T	C	8: 112,211,808 (GRCm39)	K380E	probably benign	Het
Xylt1	T	A	7: 117,233,971 (GRCm39)	Y499*	probably null	Het
Zfp777	T	C	6: 48,006,125 (GRCm39)	E467G	probably benign	Het
Zkscan4	C	A	13: 21,668,680 (GRCm39)	P406Q	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
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
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'- GGCTCTAAATCTAACGCCTGC -3'
(R):5'- ATTCCCTGGGATTTGGCTCC -3'

Sequencing Primer
(F):5'- TCTAAATCTAACGCCTGCACACAC -3'
(R):5'- TTGGTTCACCCTGAGCC -3'

Posted On

2021-08-31