Incidental Mutation 'IGL01817:Nsun5'
| ID |
154426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsun5
|
| Ensembl Gene |
ENSMUSG00000000916 |
| Gene Name |
NOL1/NOP2/Sun domain family, member 5 |
| Synonyms |
Wbscr20a, 9830109N13Rik, Nol1r |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135398807-135405659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135398893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 19
(G19V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000940]
[ENSMUST00000065785]
[ENSMUST00000111180]
[ENSMUST00000170342]
|
| AlphaFold |
Q8K4F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000940
AA Change: G19V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: G19V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
189 |
N/A |
INTRINSIC |
|
Pfam:Nol1_Nop2_Fmu
|
219 |
423 |
1.1e-32 |
PFAM |
|
low complexity region
|
448 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065785
|
| SMART Domains |
Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
7.92e-8 |
SMART |
|
BBOX
|
84 |
125 |
3.34e-6 |
SMART |
|
coiled coil region
|
128 |
163 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
235 |
N/A |
INTRINSIC |
|
PRY
|
292 |
344 |
1.07e-13 |
SMART |
|
SPRY
|
345 |
473 |
7.48e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111180
|
| SMART Domains |
Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
7.92e-8 |
SMART |
|
BBOX
|
84 |
125 |
3.34e-6 |
SMART |
|
coiled coil region
|
128 |
163 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
235 |
N/A |
INTRINSIC |
|
PRY
|
293 |
345 |
1.07e-13 |
SMART |
|
SPRY
|
346 |
474 |
7.48e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131863
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170342
AA Change: G19V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916
AA Change: G19V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202422
AA Change: G16V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141867
|
| 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 member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Eif4g3 |
T |
C |
4: 137,847,673 (GRCm39) |
V198A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 85,046,320 (GRCm39) |
E23G |
probably damaging |
Het |
| Gm4847 |
C |
A |
1: 166,462,471 (GRCm39) |
D340Y |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,459,301 (GRCm39) |
|
probably null |
Het |
| Ighv1-13 |
G |
A |
12: 114,594,600 (GRCm39) |
|
probably benign |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,714 (GRCm39) |
E69D |
probably benign |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,715 (GRCm39) |
E69G |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,356,728 (GRCm39) |
L138F |
probably damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,846,447 (GRCm39) |
|
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,348 (GRCm39) |
I294T |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,702 (GRCm39) |
F222L |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,995,025 (GRCm39) |
L615P |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,423,908 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
T |
A |
9: 105,528,021 (GRCm39) |
I458N |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,992,622 (GRCm39) |
V108A |
probably benign |
Het |
| Scamp2 |
T |
A |
9: 57,488,903 (GRCm39) |
C201* |
probably null |
Het |
| Speer1c |
C |
A |
5: 10,295,297 (GRCm39) |
A48S |
probably damaging |
Het |
| Stambpl1 |
G |
T |
19: 34,211,393 (GRCm39) |
L151F |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,171 (GRCm39) |
Y195C |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,222 (GRCm39) |
T107I |
probably damaging |
Het |
|
| Other mutations in Nsun5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Nsun5
|
APN |
5 |
135,404,249 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01797:Nsun5
|
APN |
5 |
135,404,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03233:Nsun5
|
APN |
5 |
135,404,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
eastern
|
UTSW |
5 |
135,403,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922_Nsun5_674
|
UTSW |
5 |
135,399,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
tropical
|
UTSW |
5 |
135,404,317 (GRCm39) |
nonsense |
probably null |
|
|
PIT4382001:Nsun5
|
UTSW |
5 |
135,400,355 (GRCm39) |
missense |
probably benign |
|
|
R1436:Nsun5
|
UTSW |
5 |
135,399,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Nsun5
|
UTSW |
5 |
135,400,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Nsun5
|
UTSW |
5 |
135,404,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2067:Nsun5
|
UTSW |
5 |
135,403,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Nsun5
|
UTSW |
5 |
135,404,317 (GRCm39) |
nonsense |
probably null |
|
|
R2938:Nsun5
|
UTSW |
5 |
135,404,317 (GRCm39) |
nonsense |
probably null |
|
|
R4277:Nsun5
|
UTSW |
5 |
135,398,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4278:Nsun5
|
UTSW |
5 |
135,398,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Nsun5
|
UTSW |
5 |
135,400,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Nsun5
|
UTSW |
5 |
135,400,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Nsun5
|
UTSW |
5 |
135,403,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Nsun5
|
UTSW |
5 |
135,399,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7110:Nsun5
|
UTSW |
5 |
135,400,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7977:Nsun5
|
UTSW |
5 |
135,404,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Nsun5
|
UTSW |
5 |
135,404,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Nsun5
|
UTSW |
5 |
135,404,743 (GRCm39) |
missense |
probably benign |
|
|
R8674:Nsun5
|
UTSW |
5 |
135,400,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Nsun5
|
UTSW |
5 |
135,402,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation