Incidental Mutation 'R5823:Nfu1'
| ID |
450031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfu1
|
| Ensembl Gene |
ENSMUSG00000029993 |
| Gene Name |
NFU1 iron-sulfur cluster scaffold |
| Synonyms |
CGI-33, Hirip5, 0610006G17Rik |
| MMRRC Submission |
043215-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.825)
|
| Stock # |
R5823 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86986218-87005443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87002541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 207
(Q207K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032060]
[ENSMUST00000117583]
[ENSMUST00000120240]
[ENSMUST00000144776]
|
| AlphaFold |
Q9QZ23 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032060
AA Change: Q208K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: Q208K
| 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: Q207K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: Q207K
| 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 |
possibly damaging
Transcript: ENSMUST00000120240
AA Change: Q208K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: Q208K
| 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 |
probably benign
Transcript: ENSMUST00000144776
|
| SMART Domains |
Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acsl3 |
G |
T |
1: 78,666,003 (GRCm39) |
R143L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,622,529 (GRCm39) |
I420K |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,569,213 (GRCm39) |
E85G |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 30,988,375 (GRCm39) |
F3442L |
possibly damaging |
Het |
| Dock6 |
T |
A |
9: 21,716,124 (GRCm39) |
N1737I |
probably damaging |
Het |
| Fcf1 |
A |
G |
12: 85,020,921 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Fer1l6 |
T |
A |
15: 58,462,352 (GRCm39) |
Y802* |
probably null |
Het |
| Fgf9 |
T |
G |
14: 58,320,759 (GRCm39) |
S10A |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,682,617 (GRCm39) |
I508T |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,461,201 (GRCm39) |
V2692A |
probably damaging |
Het |
| Gm38119 |
G |
T |
3: 92,645,380 (GRCm39) |
H71Q |
unknown |
Het |
| Hcn1 |
A |
T |
13: 117,739,388 (GRCm39) |
H50L |
unknown |
Het |
| Helz2 |
T |
C |
2: 180,878,189 (GRCm39) |
T870A |
possibly damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,445,800 (GRCm39) |
I116V |
probably benign |
Het |
| Lama5 |
T |
A |
2: 179,834,285 (GRCm39) |
I1383F |
probably benign |
Het |
| Lmo2 |
C |
T |
2: 103,811,417 (GRCm39) |
T150I |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,318,655 (GRCm39) |
W476R |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,715,317 (GRCm39) |
|
probably null |
Het |
| Nat10 |
A |
T |
2: 103,560,612 (GRCm39) |
V731D |
probably damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,145,663 (GRCm39) |
V1328A |
probably benign |
Het |
| Nipsnap2 |
T |
A |
5: 129,816,833 (GRCm39) |
|
probably null |
Het |
| Npc1 |
T |
C |
18: 12,324,846 (GRCm39) |
K1216E |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,843,764 (GRCm39) |
I1732V |
probably damaging |
Het |
| Rasgrp4 |
G |
T |
7: 28,837,142 (GRCm39) |
R67L |
probably benign |
Het |
| Rubcn |
T |
C |
16: 32,670,091 (GRCm39) |
D88G |
probably damaging |
Het |
| Slc30a2 |
T |
C |
4: 134,073,289 (GRCm39) |
I112T |
probably damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,268,419 (GRCm39) |
I78T |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,658,277 (GRCm39) |
M600K |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,907,562 (GRCm39) |
I327T |
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,962 (GRCm39) |
I405V |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,605,821 (GRCm39) |
S521P |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,302,407 (GRCm39) |
L535P |
probably damaging |
Het |
| Trim63 |
A |
T |
4: 134,043,842 (GRCm39) |
I102F |
probably damaging |
Het |
| Wdr47 |
G |
A |
3: 108,550,401 (GRCm39) |
V809M |
probably 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 |
|
IGL00467:Nfu1
|
APN |
6 |
86,997,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCAGTGAACCACATGCGTG -3'
(R):5'- CAGAGCTTTGAATACTTCCATGAC -3'
Sequencing Primer
(F):5'- TGTCATTGAAGGCGTCTG -3'
(R):5'- ACTTCCATGACATCTACAGTGGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation