Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00676:Nfu1'

13642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfu1

Ensembl Gene

ENSMUSG00000029993

Gene Name

NFU1 iron-sulfur cluster scaffold

Synonyms

CGI-33, Hirip5, 0610006G17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

IGL00676

Quality Score

Status

Chromosome

Chromosomal Location

86986218-87005443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86992581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 65 (P65Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032060] [ENSMUST00000117583] [ENSMUST00000120240] [ENSMUST00000144776]

AlphaFold

Q9QZ23

Predicted Effect

probably damaging
Transcript: ENSMUST00000032060
AA Change: P65Q

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

SMART Domains

Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: P65Q

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Nfu_N	59	146	1.91e-48	SMART
low complexity region	147	166	N/A	INTRINSIC
Pfam:NifU	174	240	3.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117583
AA Change: P65Q

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

SMART Domains

Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: P65Q

Domain	Start	End	E-Value	Type
Nfu_N	3	90	1.91e-48	SMART
low complexity region	95	112	N/A	INTRINSIC
Pfam:NifU	117	185	2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120240
AA Change: P65Q

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

SMART Domains

Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: P65Q

Domain	Start	End	E-Value	Type
Nfu_N	3	90	1.91e-48	SMART
low complexity region	91	110	N/A	INTRINSIC
Pfam:NifU	118	186	2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140343

Predicted Effect

probably damaging
Transcript: ENSMUST00000144776
AA Change: P65Q

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

SMART Domains

Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: P65Q

Domain	Start	End	E-Value	Type
Nfu_N	3	163	7.18e-21	SMART
low complexity region	164	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205018

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bub1b	A	G	2: 118,460,619 (GRCm39)	H650R	probably benign	Het
Gpcpd1	G	A	2: 132,395,931 (GRCm39)	S140F	probably damaging	Het
Isl1	T	C	13: 116,439,589 (GRCm39)	D253G	probably benign	Het
Mt4	A	G	8: 94,863,904 (GRCm39)		probably null	Het
Naip2	T	C	13: 100,289,140 (GRCm39)	N1197D	probably damaging	Het
Nup133	T	G	8: 124,633,037 (GRCm39)		probably benign	Het
Slc4a10	G	T	2: 62,120,345 (GRCm39)	C824F	probably damaging	Het
Snapc1	A	T	12: 74,018,687 (GRCm39)	D39V	probably damaging	Het
Tnfsf14	T	C	17: 57,499,562 (GRCm39)	T97A	possibly damaging	Het
Ythdc1	T	A	5: 86,979,670 (GRCm39)	V588D	probably damaging	Het
Zfp292	A	C	4: 34,807,827 (GRCm39)	I1739S	probably damaging	Het
Zfp882	A	G	8: 72,667,671 (GRCm39)	E166G	probably benign	Het

Other mutations in Nfu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Nfu1	APN	6	86,992,577 (GRCm39)	missense	probably damaging	1.00
IGL00467:Nfu1	APN	6	86,997,755 (GRCm39)	missense	possibly damaging	0.91
IGL01798:Nfu1	APN	6	86,992,605 (GRCm39)	missense	probably damaging	1.00
R0583:Nfu1	UTSW	6	86,986,934 (GRCm39)	missense	probably benign	0.01
R1584:Nfu1	UTSW	6	86,997,791 (GRCm39)	missense	probably damaging	0.99
R3696:Nfu1	UTSW	6	86,992,634 (GRCm39)	missense	probably damaging	1.00
R3698:Nfu1	UTSW	6	86,992,634 (GRCm39)	missense	probably damaging	1.00
R4659:Nfu1	UTSW	6	86,996,408 (GRCm39)	missense	probably damaging	0.98
R5623:Nfu1	UTSW	6	86,993,188 (GRCm39)	small deletion	probably benign
R5679:Nfu1	UTSW	6	86,996,379 (GRCm39)	missense	probably damaging	1.00
R5823:Nfu1	UTSW	6	87,002,541 (GRCm39)	missense	probably damaging	0.98
R6898:Nfu1	UTSW	6	86,994,034 (GRCm39)	splice site	probably null
R7002:Nfu1	UTSW	6	86,993,254 (GRCm39)	missense	probably benign	0.00
R7122:Nfu1	UTSW	6	86,986,863 (GRCm39)	unclassified	probably benign
R8747:Nfu1	UTSW	6	86,996,400 (GRCm39)	missense	probably damaging	1.00
R8804:Nfu1	UTSW	6	86,993,414 (GRCm39)	intron	probably benign
R9311:Nfu1	UTSW	6	86,986,926 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06