Incidental Mutation 'IGL00467:Nfu1'
| ID |
5412 |
| 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)
|
| Stock # |
IGL00467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
86986218-87005443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86997755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 213
(M213V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032060]
[ENSMUST00000117583]
[ENSMUST00000120240]
[ENSMUST00000144776]
|
| AlphaFold |
Q9QZ23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032060
AA Change: M140V
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: M140V
| 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 benign
Transcript: ENSMUST00000117583
AA Change: M140V
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: M140V
| 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 benign
Transcript: ENSMUST00000120240
AA Change: M140V
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: M140V
| 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 |
possibly damaging
Transcript: ENSMUST00000144776
AA Change: M213V
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: M213V
| 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: ENSMUST00000204103
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
C |
A |
15: 101,041,221 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,617,812 (GRCm39) |
C74S |
probably benign |
Het |
| Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,917,098 (GRCm39) |
|
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
| Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
| Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
| Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
| Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
| Slc26a6 |
T |
A |
9: 108,733,088 (GRCm39) |
D22E |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
| Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
| Tex9 |
T |
C |
9: 72,385,117 (GRCm39) |
T240A |
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
| Trim30c |
A |
T |
7: 104,031,389 (GRCm39) |
Y475* |
probably null |
Het |
| Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly damaging |
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 |
|
IGL00676:Nfu1
|
APN |
6 |
86,992,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation