Incidental Mutation 'R5641:Nsun2'
| ID |
440689 |
| Institutional Source |
Beutler Lab
|
| 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: 0.918)
|
| Stock # |
R5641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
69760135-69783899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69771368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 326
(V326E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022087]
[ENSMUST00000109699]
[ENSMUST00000176485]
|
| AlphaFold |
Q1HFZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022087
AA Change: V260E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: V260E
| 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 benign
Transcript: ENSMUST00000109699
AA Change: V326E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: V326E
| 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 benign
Transcript: ENSMUST00000176485
AA Change: V291E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: V291E
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,289,877 (GRCm39) |
M1398L |
probably benign |
Het |
| Acad12 |
A |
G |
5: 121,742,084 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,293 (GRCm39) |
I209V |
probably benign |
Het |
| Alkal2 |
G |
A |
12: 30,937,264 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,979,515 (GRCm39) |
F307L |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,595,639 (GRCm39) |
L932P |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,013,638 (GRCm38) |
M113T |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,134,038 (GRCm39) |
M4L |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,480,364 (GRCm39) |
S2711R |
probably damaging |
Het |
| Bzw1 |
A |
T |
1: 58,436,883 (GRCm39) |
Q70L |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,630,276 (GRCm39) |
I70N |
probably benign |
Het |
| Chac1 |
A |
G |
2: 119,181,999 (GRCm39) |
Y39C |
probably damaging |
Het |
| Col6a2 |
G |
C |
10: 76,449,112 (GRCm39) |
P275A |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,176,627 (GRCm39) |
N452I |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,566,094 (GRCm39) |
N188S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,307,924 (GRCm39) |
|
probably null |
Het |
| Etl4 |
GGGGAAGAACCGG |
GGG |
2: 20,811,273 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,576,081 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
T |
A |
9: 48,361,716 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7535 |
T |
C |
17: 18,131,788 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,059,798 (GRCm39) |
S200P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,767 (GRCm39) |
N121S |
unknown |
Het |
| Il21 |
T |
A |
3: 37,281,917 (GRCm39) |
K76* |
probably null |
Het |
| Jup |
T |
A |
11: 100,267,632 (GRCm39) |
T564S |
possibly damaging |
Het |
| Kcns2 |
G |
C |
15: 34,839,199 (GRCm39) |
R187S |
possibly damaging |
Het |
| Klhl18 |
G |
A |
9: 110,275,896 (GRCm39) |
T84M |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,882 (GRCm39) |
L2280M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,756 (GRCm39) |
I226T |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,396,196 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Nlrp4a |
T |
A |
7: 26,149,589 (GRCm39) |
C399S |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,913,352 (GRCm39) |
K54E |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,674,537 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,746 (GRCm39) |
I38T |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,301 (GRCm39) |
S377P |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,300 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
T |
2: 60,345,328 (GRCm39) |
W343R |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,721 (GRCm39) |
V520A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,008 (GRCm39) |
|
probably null |
Het |
| Rif1 |
A |
C |
2: 52,011,170 (GRCm39) |
R2412S |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,131,397 (GRCm39) |
L1517P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,594,199 (GRCm39) |
N65S |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,038,108 (GRCm39) |
E399G |
probably damaging |
Het |
| Slc36a4 |
A |
C |
9: 15,640,098 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
A |
T |
6: 141,885,695 (GRCm39) |
M110K |
probably damaging |
Het |
| Stat5a |
T |
A |
11: 100,767,634 (GRCm39) |
C401S |
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
T |
C |
5: 100,231,523 (GRCm39) |
T151A |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,862,179 (GRCm39) |
M173K |
probably damaging |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,342 (GRCm39) |
S99C |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,572 (GRCm39) |
C635Y |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,767,461 (GRCm39) |
K24E |
probably damaging |
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 |
|
IGL01997:Nsun2
|
APN |
13 |
69,771,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTTGCAACCCTGAGAGG -3'
(R):5'- TCAGGTTCCAAGTAATTCACAGAC -3'
Sequencing Primer
(F):5'- CAACCCTGAGAGGTGTTTGC -3'
(R):5'- CTCTTAAGAACTGGCTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation