Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Nfs1'

727557

Institutional Source

Beutler Lab

Gene Symbol

Nfs1

Ensembl Gene

ENSMUSG00000027618

Gene Name

nitrogen fixation gene 1 (S. cerevisiae)

Synonyms

m-Nfs1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9661 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155965559-155986106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155970473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 280 (V280E)

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: V280E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: V280E

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: ENSMUST00000159952

SMART Domains

Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
SCOP:d1eg5a_	3	82	2e-15	SMART
PDB:1P3W\|A	3	86	3e-34	PDB
low complexity region	93	106	N/A	INTRINSIC
Blast:RRM_2	124	160	2e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160165

SMART Domains

Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
PDB:1P3W\|A	3	28	1e-6	PDB
low complexity region	36	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162612

SMART Domains

Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
SCOP:d1eg5a_	3	82	1e-15	SMART
PDB:1P3W\|A	3	86	2e-34	PDB
low complexity region	93	106	N/A	INTRINSIC
Blast:RRM_2	124	161	1e-14	BLAST

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Card10	C	T	15: 78,683,318 (GRCm39)	R275H	probably damaging	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Hs1bp3	T	C	12: 8,367,940 (GRCm39)	V63A	probably damaging	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nudt12	T	C	17: 59,316,981 (GRCm39)	D222G	probably benign	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Ptpdc1	T	A	13: 48,739,610 (GRCm39)	N607I	probably benign	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Rtl1	G	T	12: 109,557,346 (GRCm39)	P1498T	possibly damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc16a4	T	A	3: 107,213,359 (GRCm39)	D451E	probably benign	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTAATGTGTCACTAAACAGGG -3'
(R):5'- GGGGACATTTGCTACAAACTATGC -3'

Sequencing Primer
(F):5'- CATCTCTTGTTGTGCCAAC -3'
(R):5'- CTACAAACTATGCTTTTTTCATTTCT -3'

Posted On

2022-10-06