Mutagenetix > Incidental Mutation

Incidental Mutation 'R5447:Nfs1'

429115

Institutional Source

Beutler Lab

Gene Symbol

Nfs1

Ensembl Gene

ENSMUSG00000027618

Gene Name

nitrogen fixation gene 1 (S. cerevisiae)

Synonyms

m-Nfs1

MMRRC Submission

043012-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155965559-155986106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155984056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 107 (R107H)

Ref Sequence

ENSEMBL: ENSMUSP00000105229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000088610] [ENSMUST00000109597] [ENSMUST00000109598] [ENSMUST00000109600] [ENSMUST00000119950] [ENSMUST00000184469]

AlphaFold

Q9Z1J3

Predicted Effect

probably benign
Transcript: ENSMUST00000029147
AA Change: R107H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: R107H

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: ENSMUST00000088610

SMART Domains

Protein: ENSMUSP00000085981
Gene: ENSMUSG00000067847

Domain	Start	End	E-Value	Type
Pfam:Romo1	13	79	2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109597

SMART Domains

Protein: ENSMUSP00000105226
Gene: ENSMUSG00000067847

Domain	Start	End	E-Value	Type
Pfam:Romo1	13	79	2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109598

SMART Domains

Protein: ENSMUSP00000105227
Gene: ENSMUSG00000067847

Domain	Start	End	E-Value	Type
Romo1	13	79	1.34e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109600
AA Change: R107H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105229
Gene: ENSMUSG00000027618
AA Change: R107H

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
Pfam:Aminotran_5	61	118	3.5e-12	PFAM
low complexity region	138	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119950

SMART Domains

Protein: ENSMUSP00000113943
Gene: ENSMUSG00000067847

Domain	Start	End	E-Value	Type
Pfam:Romo1	13	79	2e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125449

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

0.0701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,891,061 (GRCm39)	I479V	probably damaging	Het
Adam30	A	G	3: 98,068,659 (GRCm39)	D164G	probably benign	Het
Adgrl3	T	A	5: 81,613,188 (GRCm39)		probably benign	Het
Adrb1	T	C	19: 56,711,519 (GRCm39)	I239T	probably benign	Het
Albfm1	C	A	5: 90,732,169 (GRCm39)	A458E	probably damaging	Het
B4galnt3	T	C	6: 120,192,018 (GRCm39)	T572A	probably benign	Het
Baz2b	T	C	2: 59,744,332 (GRCm39)	E1391G	probably damaging	Het
BC016579	A	G	16: 45,469,252 (GRCm39)	V72A	probably benign	Het
Btnl10	A	T	11: 58,813,144 (GRCm39)	I258F	probably benign	Het
Cdh5	A	T	8: 104,855,994 (GRCm39)	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,881,063 (GRCm39)	D1042G	probably damaging	Het
Clk2	G	T	3: 89,074,498 (GRCm39)	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,182,413 (GRCm39)	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dmbt1	A	G	7: 130,721,240 (GRCm39)	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,172,245 (GRCm39)	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,578,955 (GRCm39)	S7P	unknown	Het
Fam110a	T	C	2: 151,812,629 (GRCm39)	E47G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Helb	T	A	10: 119,938,806 (GRCm39)	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,557,687 (GRCm39)	E22G	probably damaging	Het
Hsd17b8	A	T	17: 34,245,886 (GRCm39)	V202D	probably damaging	Het
Il1rl2	T	G	1: 40,368,316 (GRCm39)	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,795,071 (GRCm39)	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 25,118,163 (GRCm39)	A1283V	probably benign	Het
Mettl13	A	G	1: 162,363,449 (GRCm39)	V227A	probably benign	Het
Mmgt2	T	A	11: 62,555,824 (GRCm39)	C57*	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mylk2	T	C	2: 152,754,430 (GRCm39)	S175P	probably damaging	Het
Neu4	C	T	1: 93,950,140 (GRCm39)	T33M	probably damaging	Het
Nfxl1	C	T	5: 72,686,512 (GRCm39)	R563Q	probably benign	Het
Nid1	A	G	13: 13,612,495 (GRCm39)	D70G	probably benign	Het
Nup160	C	A	2: 90,555,959 (GRCm39)	Q1220K	possibly damaging	Het
Or1ad8	G	A	11: 50,898,170 (GRCm39)	V124M	possibly damaging	Het
Or1e22	A	G	11: 73,377,002 (GRCm39)	V216A	probably benign	Het
Or52s6	A	C	7: 103,092,147 (GRCm39)	M61R	probably damaging	Het
Or5k8	A	T	16: 58,644,846 (GRCm39)	C75*	probably null	Het
Pdgfrb	T	A	18: 61,201,180 (GRCm39)	V422E	probably damaging	Het
Pear1	G	A	3: 87,666,449 (GRCm39)	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,309,609 (GRCm39)	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,550,410 (GRCm39)	V62A	possibly damaging	Het
Prol1	C	T	5: 88,476,125 (GRCm39)	P172S	unknown	Het
Proz	A	G	8: 13,122,578 (GRCm39)	I231V	probably benign	Het
Ptch1	T	G	13: 63,675,059 (GRCm39)	M718L	probably benign	Het
Ptprs	A	G	17: 56,736,128 (GRCm39)	C102R	possibly damaging	Het
Robo2	A	T	16: 73,770,654 (GRCm39)	Y490*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Skint6	T	A	4: 112,963,106 (GRCm39)	S442C	probably benign	Het
Snw1	T	C	12: 87,502,485 (GRCm39)	E303G	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Stk10	C	T	11: 32,554,166 (GRCm39)	Q618*	probably null	Het
Tmc3	A	T	7: 83,271,569 (GRCm39)	E907V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,729,451 (GRCm39)		probably benign	Het
Vps39	T	C	2: 120,183,413 (GRCm39)	D19G	probably benign	Het
Zan	T	C	5: 137,470,453 (GRCm39)	S229G	probably damaging	Het
Zfp141	A	T	7: 42,124,983 (GRCm39)	C496*	probably null	Het
Zgrf1	T	C	3: 127,356,768 (GRCm39)	S665P	possibly 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
R0374:Nfs1	UTSW	2	155,974,580 (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
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'- TCCCATTGACCCGCGAAATG -3'
(R):5'- AGGTTGGAAATGCACTGAGC -3'

Sequencing Primer
(F):5'- AGTGTTAACCTTACGAGCACTGC -3'
(R):5'- GCACTGAGCAAGGTTGGC -3'

Posted On

2016-09-06