Mutagenetix > Incidental Mutation

Incidental Mutation 'R4943:Ftsj3'

383290

Institutional Source

Beutler Lab

Gene Symbol

Ftsj3

Ensembl Gene

ENSMUSG00000020706

Gene Name

FtsJ RNA 2'-O-methyltransferase 3

Synonyms

D11Ertd400e, C79843, Epcs3

MMRRC Submission

042540-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R4943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106139968-106146905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106140344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 808 (V808A)

Ref Sequence

ENSEMBL: ENSMUSP00000021048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048]

AlphaFold

Q9DBE9

Predicted Effect

probably benign
Transcript: ENSMUST00000021046

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	35	52	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	108	114	N/A	INTRINSIC
coiled coil region	116	143	N/A	INTRINSIC
low complexity region	149	158	N/A	INTRINSIC
DEXDc	272	474	7.61e-68	SMART
HELICc	512	593	1.58e-33	SMART
low complexity region	644	659	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	814	838	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000021048
AA Change: V808A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: V808A

Domain	Start	End	E-Value	Type
Pfam:FtsJ	24	200	2.8e-56	PFAM
low complexity region	203	218	N/A	INTRINSIC
Pfam:DUF3381	231	398	1.3e-48	PFAM
low complexity region	456	475	N/A	INTRINSIC
low complexity region	560	568	N/A	INTRINSIC
Pfam:Spb1_C	597	831	1.8e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154635

Meta Mutation Damage Score

0.3417

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(10) : Targeted(2) Gene trapped(8)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,393,446 (GRCm39)	T366K	possibly damaging	Het
2510039O18Rik	T	A	4: 148,029,555 (GRCm39)	H508Q	probably damaging	Het
Aadacl4fm5	T	A	4: 144,504,290 (GRCm39)	E287V	probably benign	Het
Actl9	G	A	17: 33,652,059 (GRCm39)	V40M	possibly damaging	Het
Aen	T	A	7: 78,552,109 (GRCm39)	V23E	probably damaging	Het
Agbl1	G	A	7: 76,069,764 (GRCm39)	R432K	probably benign	Het
Akap13	T	A	7: 75,398,988 (GRCm39)	F2689I	probably benign	Het
Arhgap45	A	G	10: 79,862,337 (GRCm39)	S475G	probably benign	Het
Atg7	A	C	6: 114,674,045 (GRCm39)	Q231P	probably benign	Het
Calr3	A	T	8: 73,185,221 (GRCm39)	V226D	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cops4	A	T	5: 100,695,292 (GRCm39)	M404L	probably benign	Het
Cpne4	A	T	9: 104,896,972 (GRCm39)	H375L	probably damaging	Het
D16Ertd472e	A	T	16: 78,372,877 (GRCm39)	V20D	probably damaging	Het
Dcun1d5	T	C	9: 7,186,844 (GRCm39)	F55L	possibly damaging	Het
Dhx8	T	A	11: 101,628,526 (GRCm39)	L93*	probably null	Het
Dtx4	A	G	19: 12,478,424 (GRCm39)	L53P	probably damaging	Het
Ern2	C	T	7: 121,772,481 (GRCm39)	R659H	possibly damaging	Het
Etl4	G	A	2: 20,812,092 (GRCm39)	A1392T	probably benign	Het
Fat2	T	C	11: 55,169,859 (GRCm39)	R2967G	probably benign	Het
Fat4	A	G	3: 39,034,322 (GRCm39)	D2658G	probably benign	Het
Gm10447	A	T	11: 53,347,216 (GRCm39)	Y104*	probably null	Het
Gm27013	A	T	6: 130,653,163 (GRCm39)	C766*	probably null	Het
Gm5581	A	G	6: 131,144,088 (GRCm39)		noncoding transcript	Het
Gpr158	G	A	2: 21,831,968 (GRCm39)	V1023I	probably damaging	Het
Hectd2	T	G	19: 36,581,647 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,225,504 (GRCm39)	Y138H	probably damaging	Het
Kif28	T	C	1: 179,541,516 (GRCm39)	I369V	probably benign	Het
Kif4-ps	C	T	12: 101,115,476 (GRCm39)		noncoding transcript	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map3k20	G	A	2: 72,202,262 (GRCm39)	M164I	possibly damaging	Het
Map4k4	A	G	1: 40,058,754 (GRCm39)	I1050V	probably damaging	Het
Med23	T	A	10: 24,751,567 (GRCm39)	V133D	possibly damaging	Het
Mycn	A	T	12: 12,987,080 (GRCm39)	L439Q	probably damaging	Het
Myh2	G	T	11: 67,088,143 (GRCm39)	A1920S	probably damaging	Het
Myom3	T	C	4: 135,541,585 (GRCm39)	V1392A	possibly damaging	Het
Nktr	T	A	9: 121,549,020 (GRCm39)		probably benign	Het
Nme3	A	G	17: 25,115,697 (GRCm39)	K48E	probably damaging	Het
Nt5dc1	T	C	10: 34,186,387 (GRCm39)	R58G	probably damaging	Het
Nup205	A	G	6: 35,201,574 (GRCm39)	E1270G	probably damaging	Het
Or12d16-ps1	G	T	17: 37,705,916 (GRCm39)	A162S	probably benign	Het
Or4e2	C	G	14: 52,688,051 (GRCm39)	Y60*	probably null	Het
Or51l4	A	T	7: 103,404,503 (GRCm39)	F96L	probably benign	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pclo	T	C	5: 14,762,651 (GRCm39)	L3708P	unknown	Het
Pde4dip	A	T	3: 97,662,827 (GRCm39)	N590K	probably damaging	Het
Prokr1	A	C	6: 87,558,806 (GRCm39)	I193S	possibly damaging	Het
Pxdc1	C	A	13: 34,822,989 (GRCm39)		probably null	Het
Rapgef2	A	T	3: 78,971,854 (GRCm39)	S1494T	probably benign	Het
Rbms3	G	C	9: 116,507,573 (GRCm39)		probably benign	Het
Reep3	T	A	10: 66,932,042 (GRCm39)		probably benign	Het
Rwdd2b	T	C	16: 87,231,422 (GRCm39)	K244R	possibly damaging	Het
Srrm2	T	C	17: 24,041,389 (GRCm39)	V2533A	possibly damaging	Het
Stab2	T	C	10: 86,790,026 (GRCm39)	Y580C	probably damaging	Het
Stac2	G	T	11: 97,932,398 (GRCm39)	S198R	probably benign	Het
Tdp2	T	A	13: 25,022,248 (GRCm39)	N222K	probably benign	Het
Tex21	A	G	12: 76,268,474 (GRCm39)	S103P	probably damaging	Het
Thbs1	A	T	2: 117,943,930 (GRCm39)	I183F	probably damaging	Het
Tm9sf1	T	C	14: 55,878,625 (GRCm39)	I256V	probably damaging	Het
Tmem207	C	T	16: 26,336,603 (GRCm39)	W50*	probably null	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Vmn1r227	A	T	17: 20,955,623 (GRCm39)		noncoding transcript	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r75	A	T	7: 85,814,705 (GRCm39)	S263T	probably damaging	Het
Wdr64	G	A	1: 175,547,882 (GRCm39)	V140I	probably benign	Het
Xpo4	T	C	14: 57,875,697 (GRCm39)	I145M	possibly damaging	Het
Zan	G	A	5: 137,456,152 (GRCm39)	T1336I	unknown	Het
Zdbf2	G	T	1: 63,342,073 (GRCm39)	V151F	possibly damaging	Het
Zfhx3	T	C	8: 109,674,949 (GRCm39)	S2000P	probably damaging	Het
Zfp65	T	A	13: 67,859,099 (GRCm39)	I12F	probably damaging	Het
Zfp703	C	A	8: 27,469,619 (GRCm39)	Q428K	probably benign	Het
Zfp947	A	C	17: 22,364,813 (GRCm39)	M287R	probably benign	Het
Zfp976	A	T	7: 42,261,846 (GRCm39)		probably benign	Het

Other mutations in Ftsj3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Ftsj3	APN	11	106,141,005 (GRCm39)	missense	probably damaging	0.99
IGL00964:Ftsj3	APN	11	106,143,941 (GRCm39)	missense	probably benign	0.00
IGL01025:Ftsj3	APN	11	106,141,185 (GRCm39)	missense	probably damaging	0.98
IGL01101:Ftsj3	APN	11	106,146,458 (GRCm39)	missense	probably benign	0.16
IGL01370:Ftsj3	APN	11	106,143,145 (GRCm39)	missense	possibly damaging	0.79
IGL02000:Ftsj3	APN	11	106,141,233 (GRCm39)	missense	probably benign	0.03
IGL02139:Ftsj3	APN	11	106,145,489 (GRCm39)	missense	possibly damaging	0.91
IGL02340:Ftsj3	APN	11	106,143,972 (GRCm39)	nonsense	probably null
IGL02964:Ftsj3	APN	11	106,143,163 (GRCm39)	missense	probably damaging	1.00
IGL03136:Ftsj3	APN	11	106,144,639 (GRCm39)	missense	probably damaging	1.00
D4043:Ftsj3	UTSW	11	106,145,634 (GRCm39)	missense	possibly damaging	0.91
LCD18:Ftsj3	UTSW	11	106,140,885 (GRCm39)	splice site	probably benign
NA:Ftsj3	UTSW	11	106,145,634 (GRCm39)	missense	possibly damaging	0.91
P0018:Ftsj3	UTSW	11	106,145,634 (GRCm39)	missense	possibly damaging	0.91
P0027:Ftsj3	UTSW	11	106,145,634 (GRCm39)	missense	possibly damaging	0.91
PIT4581001:Ftsj3	UTSW	11	106,140,302 (GRCm39)	missense	unknown
R1449:Ftsj3	UTSW	11	106,143,826 (GRCm39)	missense	probably benign	0.28
R2242:Ftsj3	UTSW	11	106,141,604 (GRCm39)	missense	probably benign	0.45
R4086:Ftsj3	UTSW	11	106,140,395 (GRCm39)	missense	probably damaging	1.00
R4356:Ftsj3	UTSW	11	106,144,502 (GRCm39)	missense	probably benign	0.01
R4358:Ftsj3	UTSW	11	106,144,502 (GRCm39)	missense	probably benign	0.01
R5520:Ftsj3	UTSW	11	106,146,414 (GRCm39)	missense	probably benign	0.05
R5997:Ftsj3	UTSW	11	106,143,077 (GRCm39)	missense	probably damaging	0.99
R6047:Ftsj3	UTSW	11	106,143,144 (GRCm39)	missense	probably damaging	0.96
R6180:Ftsj3	UTSW	11	106,144,166 (GRCm39)	splice site	probably null
R6771:Ftsj3	UTSW	11	106,140,366 (GRCm39)	missense	probably damaging	1.00
R7121:Ftsj3	UTSW	11	106,143,123 (GRCm39)	missense	probably damaging	1.00
R7303:Ftsj3	UTSW	11	106,145,506 (GRCm39)	missense	probably damaging	1.00
R7349:Ftsj3	UTSW	11	106,140,572 (GRCm39)	missense	probably damaging	1.00
R7559:Ftsj3	UTSW	11	106,143,813 (GRCm39)	missense	possibly damaging	0.55
R7782:Ftsj3	UTSW	11	106,143,377 (GRCm39)	unclassified	probably benign
R7783:Ftsj3	UTSW	11	106,143,377 (GRCm39)	unclassified	probably benign
R7899:Ftsj3	UTSW	11	106,143,115 (GRCm39)	nonsense	probably null
R8129:Ftsj3	UTSW	11	106,144,657 (GRCm39)	missense	probably benign	0.03
R8897:Ftsj3	UTSW	11	106,144,602 (GRCm39)	missense	probably damaging	1.00
R8933:Ftsj3	UTSW	11	106,141,660 (GRCm39)	missense	probably benign	0.01
R8985:Ftsj3	UTSW	11	106,141,595 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTGTAGCAGCTCTCCCAATC -3'
(R):5'- AGTGGACATCTCAGAACGGG -3'

Sequencing Primer
(F):5'- TCCCACAAAGCCTCCAGAGAG -3'
(R):5'- CACAGCTGCGAAGGTGATTTG -3'

Posted On

2016-04-27