Incidental Mutation 'IGL03233:Nsun5'
| ID |
413965 |
| 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 # |
IGL03233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135398807-135405659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135404299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 369
(V369M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000940]
[ENSMUST00000111171]
[ENSMUST00000170342]
|
| AlphaFold |
Q8K4F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000940
AA Change: V369M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: V369M
| 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: ENSMUST00000111171
|
| SMART Domains |
Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
188 |
N/A |
INTRINSIC |
|
Pfam:POM121
|
292 |
527 |
1.3e-111 |
PFAM |
|
low complexity region
|
541 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
825 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
827 |
861 |
8.15e-5 |
PROSPERO |
|
low complexity region
|
874 |
904 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
905 |
952 |
5.01e-5 |
PROSPERO |
|
internal_repeat_1
|
917 |
961 |
1.66e-6 |
PROSPERO |
|
low complexity region
|
963 |
979 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1099 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1104 |
1144 |
4.39e-6 |
PROSPERO |
|
internal_repeat_1
|
1114 |
1155 |
1.66e-6 |
PROSPERO |
|
internal_repeat_4
|
1125 |
1164 |
8.15e-5 |
PROSPERO |
|
internal_repeat_3
|
1126 |
1175 |
5.01e-5 |
PROSPERO |
|
internal_repeat_2
|
1142 |
1178 |
4.39e-6 |
PROSPERO |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000141867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202792
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170342
|
| SMART Domains |
Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
| Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
| Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
| Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
| Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
| Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
| Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
| Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
| Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
| Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly 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 |
|
IGL01817:Nsun5
|
APN |
5 |
135,398,893 (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 |
2016-08-02 |
Incidental Mutation