Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Nfs1'

38499

Institutional Source

Beutler Lab

Gene Symbol

Nfs1

Ensembl Gene

ENSMUSG00000027618

Gene Name

nitrogen fixation gene 1 (S. cerevisiae)

Synonyms

m-Nfs1

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155965559-155986106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 155974580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 212 (G212R)

Ref Sequence

ENSEMBL: ENSMUSP00000029147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000184469]

AlphaFold

Q9Z1J3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029147
AA Change: G212R

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

SMART Domains

Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: G212R

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
Pfam:Aminotran_5	61	424	6.2e-94	PFAM
Pfam:Beta_elim_lyase	94	344	7.8e-12	PFAM
Pfam:DegT_DnrJ_EryC1	100	250	1.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184469

SMART Domains

Protein: ENSMUSP00000139294
Gene: ENSMUSG00000027618

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	1	81	2.3e-10	PFAM

Meta Mutation Damage Score

0.9733

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Apbb1ip	A	G	2: 22,709,717 (GRCm39)		probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Casp9	T	A	4: 141,534,484 (GRCm39)	I298N	possibly damaging	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Ctdp1	A	G	18: 80,490,637 (GRCm39)		probably null	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Foxm1	C	T	6: 128,349,566 (GRCm39)	R362W	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Or6c6c	G	A	10: 129,541,516 (GRCm39)	M256I	probably benign	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Sap30bp	T	A	11: 115,855,103 (GRCm39)	I271N	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	probably damaging	Het

Other mutations in Nfs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Nfs1	APN	2	155,966,191 (GRCm39)	missense	probably damaging	1.00
IGL02944:Nfs1	APN	2	155,969,688 (GRCm39)	missense	probably damaging	1.00
IGL03350:Nfs1	APN	2	155,969,660 (GRCm39)	missense	probably benign	0.37
lantana	UTSW	2	155,976,369 (GRCm39)	missense	possibly damaging	0.94
G1Funyon:Nfs1	UTSW	2	155,976,413 (GRCm39)	nonsense	probably null
R0118:Nfs1	UTSW	2	155,976,444 (GRCm39)	missense	probably damaging	1.00
R1653:Nfs1	UTSW	2	155,967,256 (GRCm39)	missense	probably damaging	1.00
R3787:Nfs1	UTSW	2	155,970,503 (GRCm39)	missense	possibly damaging	0.53
R4614:Nfs1	UTSW	2	155,985,970 (GRCm39)	missense	probably benign	0.04
R4782:Nfs1	UTSW	2	155,976,369 (GRCm39)	missense	possibly damaging	0.94
R4799:Nfs1	UTSW	2	155,976,369 (GRCm39)	missense	possibly damaging	0.94
R5053:Nfs1	UTSW	2	155,968,318 (GRCm39)	missense	probably damaging	0.99
R5447:Nfs1	UTSW	2	155,984,056 (GRCm39)	missense	probably benign	0.01
R5479:Nfs1	UTSW	2	155,970,422 (GRCm39)	missense	probably damaging	1.00
R5992:Nfs1	UTSW	2	155,976,373 (GRCm39)	missense	probably damaging	0.98
R7267:Nfs1	UTSW	2	155,965,703 (GRCm39)	missense	probably benign	0.12
R7400:Nfs1	UTSW	2	155,968,243 (GRCm39)	missense	probably damaging	1.00
R7886:Nfs1	UTSW	2	155,983,981 (GRCm39)	missense	unknown
R8301:Nfs1	UTSW	2	155,976,413 (GRCm39)	nonsense	probably null
R8729:Nfs1	UTSW	2	155,965,727 (GRCm39)	missense	probably benign	0.20
R8905:Nfs1	UTSW	2	155,970,503 (GRCm39)	missense	probably damaging	0.96
R9099:Nfs1	UTSW	2	155,968,934 (GRCm39)	missense	probably damaging	1.00
R9417:Nfs1	UTSW	2	155,965,851 (GRCm39)	nonsense	probably null
R9661:Nfs1	UTSW	2	155,970,473 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACACACGACATTTTGGTGCCCG -3'
(R):5'- AGGGTTAGAGTGAAAGGCTCCTCTTG -3'

Sequencing Primer
(F):5'- gagccatcttaccagccc -3'
(R):5'- GCTCCTCTTGTAGATTTAAAATTGCC -3'

Posted On

2013-05-23