Incidental Mutation 'IGL00981:Nsun5'
| ID |
27539 |
| 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 # |
IGL00981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135398807-135405659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135404249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 352
(Q352L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000940]
[ENSMUST00000111171]
[ENSMUST00000170342]
|
| AlphaFold |
Q8K4F6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000940
AA Change: Q352L
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: Q352L
| 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 |
|---|
| 4930503L19Rik |
G |
A |
18: 70,586,404 (GRCm39) |
Q478* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,447 (GRCm39) |
L420Q |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,517,543 (GRCm39) |
|
probably null |
Het |
| Bcan |
T |
A |
3: 87,905,139 (GRCm39) |
I2F |
possibly damaging |
Het |
| Boc |
A |
G |
16: 44,312,164 (GRCm39) |
S633P |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,117,104 (GRCm39) |
S130P |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,275,182 (GRCm39) |
F490L |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,490 (GRCm39) |
D469E |
possibly damaging |
Het |
| Cdyl |
A |
T |
13: 36,000,096 (GRCm39) |
S126C |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,458 (GRCm39) |
I192F |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,635,925 (GRCm39) |
E515K |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,049 (GRCm39) |
D1044E |
unknown |
Het |
| Eif3i |
T |
A |
4: 129,488,862 (GRCm39) |
Y125F |
probably benign |
Het |
| Gnai1 |
T |
G |
5: 18,472,045 (GRCm39) |
N346T |
probably benign |
Het |
| Kcnd1 |
C |
T |
X: 7,702,672 (GRCm39) |
T629I |
probably benign |
Het |
| Mcc |
A |
T |
18: 44,582,416 (GRCm39) |
N578K |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,248,099 (GRCm39) |
R1735Q |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,116,021 (GRCm39) |
|
noncoding transcript |
Het |
| Or14j6 |
G |
A |
17: 38,215,072 (GRCm39) |
V212M |
probably benign |
Het |
| Or2d2b |
C |
A |
7: 106,705,268 (GRCm39) |
E267* |
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,269 (GRCm39) |
K266N |
probably benign |
Het |
| Or8g18 |
A |
G |
9: 39,148,901 (GRCm39) |
V276A |
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,703,857 (GRCm39) |
G693D |
probably damaging |
Het |
| Rpl10a-ps2 |
A |
T |
13: 8,990,566 (GRCm39) |
|
probably benign |
Het |
| Spink1 |
C |
T |
18: 43,870,159 (GRCm39) |
|
probably null |
Het |
| Sqle |
T |
C |
15: 59,198,468 (GRCm39) |
V464A |
probably damaging |
Het |
| Trav6-4 |
A |
T |
14: 53,692,153 (GRCm39) |
T84S |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,259,311 (GRCm39) |
|
probably benign |
Het |
| Txlng |
T |
C |
X: 161,567,368 (GRCm39) |
M319V |
probably benign |
Het |
| Wee1 |
A |
T |
7: 109,738,876 (GRCm39) |
E582D |
probably damaging |
Het |
|
| Other mutations in Nsun5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation