Incidental Mutation 'R6890:Nsun6'
| ID |
537143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsun6
|
| Ensembl Gene |
ENSMUSG00000026707 |
| Gene Name |
NOL1/NOP2/Sun domain family member 6 |
| Synonyms |
4933403D21Rik, NOPD1, 4933414E04Rik |
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14999942-15059880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15053788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 7
(I7T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017562]
[ENSMUST00000028034]
[ENSMUST00000076435]
[ENSMUST00000114713]
[ENSMUST00000114715]
[ENSMUST00000195749]
|
| AlphaFold |
Q7TS68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017562
|
| SMART Domains |
Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
4 |
171 |
4.8e-58 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028034
AA Change: I7T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: I7T
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
112 |
203 |
1.96e-4 |
SMART |
|
Pfam:FtsJ
|
216 |
397 |
1.4e-8 |
PFAM |
|
Pfam:Methyltransf_31
|
232 |
423 |
1.3e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
234 |
373 |
1.4e-8 |
PFAM |
|
Pfam:Methyltransf_26
|
235 |
374 |
2.9e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076435
AA Change: I7T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: I7T
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
112 |
203 |
1.96e-4 |
SMART |
|
Pfam:FtsJ
|
224 |
392 |
4.7e-9 |
PFAM |
|
Pfam:Nol1_Nop2_Fmu
|
227 |
464 |
4.7e-48 |
PFAM |
|
Pfam:Methyltransf_31
|
232 |
423 |
8.8e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114713
AA Change: I7T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114715
|
| SMART Domains |
Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
61 |
152 |
1.96e-4 |
SMART |
|
Pfam:FtsJ
|
165 |
346 |
4.5e-9 |
PFAM |
|
Pfam:Methyltransf_31
|
181 |
372 |
2.3e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
183 |
322 |
2.8e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
184 |
323 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195749
AA Change: I7T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: I7T
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
112 |
203 |
1.96e-4 |
SMART |
|
Pfam:FtsJ
|
216 |
397 |
1.4e-8 |
PFAM |
|
Pfam:Methyltransf_31
|
232 |
423 |
1.3e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
234 |
373 |
1.4e-8 |
PFAM |
|
Pfam:Methyltransf_26
|
235 |
374 |
2.9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.3051 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Nsun6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Nsun6
|
APN |
2 |
15,053,789 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02347:Nsun6
|
APN |
2 |
15,034,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL03352:Nsun6
|
APN |
2 |
15,001,157 (GRCm39) |
nonsense |
probably null |
|
|
R0371:Nsun6
|
UTSW |
2 |
15,034,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Nsun6
|
UTSW |
2 |
15,001,147 (GRCm39) |
missense |
probably benign |
|
|
R0737:Nsun6
|
UTSW |
2 |
15,001,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Nsun6
|
UTSW |
2 |
15,014,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1676:Nsun6
|
UTSW |
2 |
15,052,024 (GRCm39) |
nonsense |
probably null |
|
|
R1842:Nsun6
|
UTSW |
2 |
15,014,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1989:Nsun6
|
UTSW |
2 |
15,042,995 (GRCm39) |
missense |
probably benign |
|
|
R2091:Nsun6
|
UTSW |
2 |
15,044,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2972:Nsun6
|
UTSW |
2 |
15,042,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3276:Nsun6
|
UTSW |
2 |
15,014,215 (GRCm39) |
splice site |
probably benign |
|
|
R4386:Nsun6
|
UTSW |
2 |
15,001,333 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4761:Nsun6
|
UTSW |
2 |
15,034,872 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4782:Nsun6
|
UTSW |
2 |
15,041,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6701:Nsun6
|
UTSW |
2 |
15,041,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7555:Nsun6
|
UTSW |
2 |
15,001,150 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7587:Nsun6
|
UTSW |
2 |
15,044,636 (GRCm39) |
missense |
probably benign |
|
|
R7880:Nsun6
|
UTSW |
2 |
15,001,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7888:Nsun6
|
UTSW |
2 |
15,001,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8160:Nsun6
|
UTSW |
2 |
15,014,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8458:Nsun6
|
UTSW |
2 |
15,034,863 (GRCm39) |
missense |
probably benign |
|
|
R8784:Nsun6
|
UTSW |
2 |
15,001,306 (GRCm39) |
nonsense |
probably null |
|
|
R9320:Nsun6
|
UTSW |
2 |
15,047,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Nsun6
|
UTSW |
2 |
15,047,106 (GRCm39) |
missense |
probably benign |
|
|
R9710:Nsun6
|
UTSW |
2 |
15,003,009 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Nsun6
|
UTSW |
2 |
15,044,631 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Nsun6
|
UTSW |
2 |
15,034,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Nsun6
|
UTSW |
2 |
15,042,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGTAAGCATCAATGGTGAC -3'
(R):5'- TATTTGGCGCAGTGTCGCAG -3'
Sequencing Primer
(F):5'- TCTGCTGAAGTTGTATCAG -3'
(R):5'- CAGTTCGGAGCTGTCTCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation