Incidental Mutation 'IGL02944:Nfs1'
| ID |
364649 |
| 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 |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL02944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
155965559-155986106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155969688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 320
(D320N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029147]
[ENSMUST00000184469]
|
| AlphaFold |
Q9Z1J3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029147
AA Change: D320N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: D320N
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
| Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
| Cav2 |
T |
C |
6: 17,281,456 (GRCm39) |
Y33H |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
| Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
| Gmds |
T |
A |
13: 32,522,435 (GRCm39) |
Y11F |
probably benign |
Het |
| Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
| Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
| Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
| Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
| Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
| Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,317,807 (GRCm39) |
S354G |
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
| Slc25a54 |
A |
T |
3: 108,987,931 (GRCm39) |
Y24F |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,482,865 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
G |
T |
7: 104,084,984 (GRCm39) |
N75K |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
probably benign |
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 |
|
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 |
|
R3787:Nfs1
|
UTSW |
2 |
155,970,503 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation