Incidental Mutation 'IGL01997:Nsun2'
| ID |
182109 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsun2
|
| Ensembl Gene |
ENSMUSG00000021595 |
| Gene Name |
NOL1/NOP2/Sun domain family member 2 |
| Synonyms |
Misu |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
IGL01997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
69760135-69783899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69771365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 290
(P290L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022087]
[ENSMUST00000109699]
[ENSMUST00000176485]
|
| AlphaFold |
Q1HFZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022087
AA Change: P259L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: P259L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nol1_Nop2_Fmu
|
83 |
209 |
4.5e-19 |
PFAM |
|
Pfam:Nol1_Nop2_Fmu
|
199 |
376 |
1.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109699
AA Change: P325L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: P325L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nol1_Nop2_Fmu
|
169 |
428 |
3.2e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136932
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176485
AA Change: P290L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: P290L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nol1_Nop2_Fmu
|
114 |
240 |
3.5e-19 |
PFAM |
|
Pfam:Nol1_Nop2_Fmu
|
230 |
399 |
1.1e-23 |
PFAM |
|
| 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 methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous inactivation of this gene leads to decreased body size, male sterility, and hair cycle anomalies. Additional phenotypes may include reduced body fat, skeletal, craniofacial and eye defects, abnormal erythropoiesis, and altered energy expenditure and gas, glucose, and lipid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
| Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
| Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
| Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
| Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
| Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
| Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
| Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
| Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
| S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
Het |
|
| Other mutations in Nsun2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Nsun2
|
APN |
13 |
69,771,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02253:Nsun2
|
APN |
13 |
69,767,658 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03038:Nsun2
|
APN |
13 |
69,767,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02984:Nsun2
|
UTSW |
13 |
69,691,727 (GRCm39) |
intron |
probably benign |
|
|
PIT4494001:Nsun2
|
UTSW |
13 |
69,766,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0601:Nsun2
|
UTSW |
13 |
69,781,361 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0648:Nsun2
|
UTSW |
13 |
69,775,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Nsun2
|
UTSW |
13 |
69,777,661 (GRCm39) |
missense |
probably benign |
|
|
R0718:Nsun2
|
UTSW |
13 |
69,691,816 (GRCm39) |
intron |
probably benign |
|
|
R1501:Nsun2
|
UTSW |
13 |
69,779,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Nsun2
|
UTSW |
13 |
69,775,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Nsun2
|
UTSW |
13 |
69,775,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Nsun2
|
UTSW |
13 |
69,775,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Nsun2
|
UTSW |
13 |
69,767,700 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2872:Nsun2
|
UTSW |
13 |
69,777,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Nsun2
|
UTSW |
13 |
69,777,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Nsun2
|
UTSW |
13 |
69,760,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3691:Nsun2
|
UTSW |
13 |
69,760,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Nsun2
|
UTSW |
13 |
69,777,757 (GRCm39) |
missense |
probably benign |
|
|
R3918:Nsun2
|
UTSW |
13 |
69,778,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4065:Nsun2
|
UTSW |
13 |
69,760,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4231:Nsun2
|
UTSW |
13 |
69,767,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Nsun2
|
UTSW |
13 |
69,777,840 (GRCm39) |
splice site |
probably null |
|
|
R4872:Nsun2
|
UTSW |
13 |
69,691,992 (GRCm39) |
intron |
probably benign |
|
|
R5641:Nsun2
|
UTSW |
13 |
69,771,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5718:Nsun2
|
UTSW |
13 |
69,771,403 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5976:Nsun2
|
UTSW |
13 |
69,771,271 (GRCm39) |
splice site |
probably null |
|
|
R6110:Nsun2
|
UTSW |
13 |
69,775,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6943:Nsun2
|
UTSW |
13 |
69,778,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Nsun2
|
UTSW |
13 |
69,779,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7146:Nsun2
|
UTSW |
13 |
69,774,672 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7456:Nsun2
|
UTSW |
13 |
69,781,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8017:Nsun2
|
UTSW |
13 |
69,775,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8019:Nsun2
|
UTSW |
13 |
69,775,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8225:Nsun2
|
UTSW |
13 |
69,760,493 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8935:Nsun2
|
UTSW |
13 |
69,767,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Nsun2
|
UTSW |
13 |
69,763,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Nsun2
|
UTSW |
13 |
69,763,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation