Incidental Mutation 'R6922:Nsun5'
| ID |
539674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsun5
|
| Ensembl Gene |
ENSMUSG00000000916 |
| Gene Name |
NOL1/NOP2/Sun domain family, member 5 |
| Synonyms |
Wbscr20a, 9830109N13Rik, Nol1r |
| MMRRC Submission |
045041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6922 (G1)
|
| Quality Score |
204.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135398807-135405659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 135399046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 32
(N32T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000940]
[ENSMUST00000065785]
[ENSMUST00000111180]
[ENSMUST00000170342]
|
| AlphaFold |
Q8K4F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000940
AA Change: N32T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: N32T
| 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 |
possibly damaging
Transcript: ENSMUST00000170342
AA Change: N32T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916
AA Change: N32T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0978 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
C |
15: 72,985,601 (GRCm39) |
I665V |
probably benign |
Het |
| Aoc1l3 |
T |
G |
6: 48,964,508 (GRCm39) |
F172C |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,063,983 (GRCm39) |
M74L |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,304 (GRCm39) |
C90R |
possibly damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,821 (GRCm39) |
D139V |
probably damaging |
Het |
| Camta2 |
A |
C |
11: 70,564,964 (GRCm39) |
I852S |
probably benign |
Het |
| Cd200l1 |
A |
T |
16: 45,264,294 (GRCm39) |
M88K |
probably benign |
Het |
| Cox4i2 |
G |
T |
2: 152,599,015 (GRCm39) |
E57D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,091,724 (GRCm39) |
I1055T |
probably benign |
Het |
| Eif1ad18 |
T |
A |
12: 88,050,602 (GRCm39) |
W46R |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,646 (GRCm39) |
P284S |
probably damaging |
Het |
| Ephb1 |
C |
A |
9: 101,806,463 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
T |
3: 84,879,723 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
A |
4: 82,840,506 (GRCm39) |
D1789Y |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,127,524 (GRCm39) |
R405S |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,547,482 (GRCm39) |
V1567M |
possibly damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,648,553 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,449,956 (GRCm39) |
D1983E |
probably benign |
Het |
| Lhfpl2 |
G |
T |
13: 94,311,029 (GRCm39) |
A100S |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,655,301 (GRCm39) |
V1073D |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,438,706 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,350,311 (GRCm39) |
L921P |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,263 (GRCm39) |
E49K |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,855,092 (GRCm39) |
S325P |
probably damaging |
Het |
| Or2d36 |
A |
G |
7: 106,747,290 (GRCm39) |
I256V |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,501,797 (GRCm39) |
K305* |
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,710 (GRCm39) |
D239G |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,444,273 (GRCm39) |
D523G |
probably benign |
Het |
| Prokr1 |
C |
A |
6: 87,565,455 (GRCm39) |
W130L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,562 (GRCm39) |
N266S |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,255 (GRCm39) |
V5A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,834 (GRCm39) |
L1140P |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,448,874 (GRCm39) |
D3640G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,147,779 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
A |
G |
9: 45,097,220 (GRCm39) |
V15A |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,014,129 (GRCm39) |
L559P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,045 (GRCm39) |
L990H |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,615,369 (GRCm39) |
T278A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,604,780 (GRCm39) |
L18385F |
probably damaging |
Het |
| Upf3a |
G |
T |
8: 13,841,911 (GRCm39) |
A149S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp316 |
A |
T |
5: 143,239,280 (GRCm39) |
F913Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCGTAGAGCGCTTGAG -3'
(R):5'- TCCAAGGGGAGTCACATCTGAC -3'
Sequencing Primer
(F):5'- CTTGAGGCGGGGAGAGCATG -3'
(R):5'- GTCACATCTGACCCAGCTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation