Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Nfs1'

272294

Institutional Source

Beutler Lab

Gene Symbol

Nfs1

Ensembl Gene

ENSMUSG00000027618

Gene Name

nitrogen fixation gene 1 (S. cerevisiae)

Synonyms

m-Nfs1

MMRRC Submission

040754-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R3787 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

155965559-155986106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155970503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 270 (I270T)

Ref Sequence

ENSEMBL: ENSMUSP00000029147 (fasta)

Gene Model

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

AlphaFold

Q9Z1J3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029147
AA Change: I270T

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: I270T

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	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
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'- TGCTAATGTGTCACTAAACAGGG -3'
(R):5'- CTGGGGACATTTGCTACAAAC -3'

Sequencing Primer
(F):5'- CCTGCTTGAGGGGAGAACTTG -3'
(R):5'- GTAATATTTTGTTCCATTGTGTT -3'

Posted On

2015-03-25