Incidental Mutation 'IGL01797:Nsun5'
ID |
155391 |
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 # |
IGL01797
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
135398807-135405659 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135404225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 344
(H344R)
|
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: H344R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000940 Gene: ENSMUSG00000000916 AA Change: H344R
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202422
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,113,760 (GRCm39) |
V877A |
probably benign |
Het |
Clcn2 |
T |
C |
16: 20,531,511 (GRCm39) |
I178V |
probably damaging |
Het |
Cnbp |
A |
G |
6: 87,822,542 (GRCm39) |
|
probably benign |
Het |
Coq8a |
A |
T |
1: 179,997,284 (GRCm39) |
|
probably null |
Het |
Dctn2 |
A |
G |
10: 127,113,182 (GRCm39) |
D244G |
possibly damaging |
Het |
Dync1h1 |
T |
A |
12: 110,618,630 (GRCm39) |
|
probably null |
Het |
Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,116,442 (GRCm39) |
K83E |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,854,925 (GRCm39) |
C159* |
probably null |
Het |
Fgd3 |
A |
T |
13: 49,443,065 (GRCm39) |
V169E |
probably damaging |
Het |
Ice1 |
G |
T |
13: 70,772,065 (GRCm39) |
T51K |
probably damaging |
Het |
Iqca1 |
A |
C |
1: 90,072,541 (GRCm39) |
|
probably null |
Het |
Jup |
C |
A |
11: 100,272,498 (GRCm39) |
|
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,915 (GRCm39) |
V373A |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,476,802 (GRCm39) |
M9K |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,086 (GRCm39) |
V480A |
probably damaging |
Het |
Or13a21 |
A |
G |
7: 139,998,931 (GRCm39) |
Y252H |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,644 (GRCm39) |
D70V |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,487,883 (GRCm39) |
|
probably benign |
Het |
Prkaa1 |
G |
A |
15: 5,198,187 (GRCm39) |
D159N |
probably damaging |
Het |
Sap130 |
T |
A |
18: 31,831,721 (GRCm39) |
I736N |
probably damaging |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,398,459 (GRCm39) |
I286V |
probably benign |
Het |
Ttll5 |
T |
A |
12: 86,003,371 (GRCm39) |
I1069K |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,540,257 (GRCm39) |
E34243A |
possibly damaging |
Het |
Uqcr10 |
A |
C |
11: 4,654,179 (GRCm39) |
I43S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 187,995,706 (GRCm39) |
M159K |
probably damaging |
Het |
Vmn2r121 |
G |
A |
X: 123,041,048 (GRCm39) |
|
probably benign |
Het |
Vmn2r30 |
T |
A |
7: 7,337,195 (GRCm39) |
D147V |
probably benign |
Het |
Xntrpc |
T |
C |
7: 101,739,753 (GRCm39) |
I559T |
possibly damaging |
Het |
Zfp268 |
T |
A |
4: 145,347,241 (GRCm39) |
N48K |
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 |
IGL01817:Nsun5
|
APN |
5 |
135,398,893 (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 |