Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03350:Nfs1'

419662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfs1

Ensembl Gene

ENSMUSG00000027618

Gene Name

nitrogen fixation gene 1 (S. cerevisiae)

Synonyms

m-Nfs1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

156123639-156144186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156127740 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

Ref Sequence

ENSEMBL: ENSMUSP00000029147 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029147
AA Change: E329G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: E329G

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Brat1	T	C	5: 140,705,995	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Flt4	C	A	11: 49,634,793	S722*	probably null	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Npsr1	T	C	9: 24,098,309	V37A	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Ribc2	T	A	15: 85,135,502	W162R	probably damaging	Het
Rnf4	A	G	5: 34,346,860	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188	T126A	probably benign	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	probably benign	Het

Other mutations in Nfs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Nfs1	APN	2	156124271	missense	probably damaging	1.00
IGL02944:Nfs1	APN	2	156127768	missense	probably damaging	1.00
R0118:Nfs1	UTSW	2	156134524	missense	probably damaging	1.00
R0374:Nfs1	UTSW	2	156132660	missense	probably damaging	1.00
R1653:Nfs1	UTSW	2	156125336	missense	probably damaging	1.00
R3787:Nfs1	UTSW	2	156128583	missense	possibly damaging	0.53
R4614:Nfs1	UTSW	2	156144050	missense	probably benign	0.04
R4782:Nfs1	UTSW	2	156134449	missense	possibly damaging	0.94
R4799:Nfs1	UTSW	2	156134449	missense	possibly damaging	0.94
R5053:Nfs1	UTSW	2	156126398	missense	probably damaging	0.99
R5447:Nfs1	UTSW	2	156142136	missense	probably benign	0.01
R5479:Nfs1	UTSW	2	156128502	missense	probably damaging	1.00
R5992:Nfs1	UTSW	2	156134453	missense	probably damaging	0.98
R7267:Nfs1	UTSW	2	156123783	missense	probably benign	0.12
R7400:Nfs1	UTSW	2	156126323	missense	probably damaging	1.00
R7886:Nfs1	UTSW	2	156142061	missense	unknown
R8301:Nfs1	UTSW	2	156134493	nonsense	probably null

Posted On

2016-08-02