Incidental Mutation 'IGL01123:Nsun6'
ID |
50572 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nsun6
|
Ensembl Gene |
ENSMUSG00000026707 |
Gene Name |
NOL1/NOP2/Sun domain family member 6 |
Synonyms |
4933403D21Rik, NOPD1, 4933414E04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL01123
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
14999942-15059880 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15053789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 7
(I7V)
|
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 benign
Transcript: ENSMUST00000028034
AA Change: I7V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000028034 Gene: ENSMUSG00000026707 AA Change: I7V
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 benign
Transcript: ENSMUST00000076435
AA Change: I7V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000075766 Gene: ENSMUSG00000026707 AA Change: I7V
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 |
possibly damaging
Transcript: ENSMUST00000114713
AA Change: I7V
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
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 |
noncoding transcript
Transcript: ENSMUST00000191911
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195749
AA Change: I7V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000141924 Gene: ENSMUSG00000026707 AA Change: I7V
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 |
noncoding transcript
Transcript: ENSMUST00000192769
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
G |
T |
10: 28,849,934 (GRCm39) |
D167E |
probably damaging |
Het |
Aadat |
A |
T |
8: 60,979,648 (GRCm39) |
E170V |
probably benign |
Het |
Acsf2 |
T |
C |
11: 94,461,276 (GRCm39) |
E300G |
probably benign |
Het |
Agbl3 |
C |
T |
6: 34,823,911 (GRCm39) |
Q859* |
probably null |
Het |
Arhgap11a |
T |
C |
2: 113,665,118 (GRCm39) |
|
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,231,803 (GRCm39) |
Q730K |
probably damaging |
Het |
Armc3 |
C |
T |
2: 19,206,616 (GRCm39) |
P13L |
possibly damaging |
Het |
B3gnt2 |
T |
A |
11: 22,786,490 (GRCm39) |
T233S |
probably benign |
Het |
Bnc1 |
G |
A |
7: 81,623,455 (GRCm39) |
Q591* |
probably null |
Het |
Bsn |
A |
T |
9: 107,993,185 (GRCm39) |
F856I |
probably damaging |
Het |
CK137956 |
T |
A |
4: 127,829,643 (GRCm39) |
T558S |
probably benign |
Het |
Coq8b |
G |
A |
7: 26,939,509 (GRCm39) |
V180I |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 17,584,944 (GRCm39) |
L16Q |
possibly damaging |
Het |
Dhx37 |
A |
G |
5: 125,496,152 (GRCm39) |
S769P |
possibly damaging |
Het |
Diras1 |
T |
A |
10: 80,858,249 (GRCm39) |
M1L |
probably damaging |
Het |
Fam161b |
A |
G |
12: 84,404,438 (GRCm39) |
W81R |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,011,418 (GRCm39) |
I2173L |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
Gabrq |
G |
A |
X: 71,880,439 (GRCm39) |
D311N |
probably benign |
Het |
Isl2 |
G |
T |
9: 55,452,746 (GRCm39) |
G335C |
probably damaging |
Het |
Kbtbd7 |
T |
C |
14: 79,666,052 (GRCm39) |
V628A |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,735,029 (GRCm39) |
M5378V |
unknown |
Het |
Lrrc23 |
G |
T |
6: 124,755,782 (GRCm39) |
D75E |
probably benign |
Het |
Mab21l3 |
G |
A |
3: 101,742,446 (GRCm39) |
T38M |
probably benign |
Het |
Matn1 |
T |
C |
4: 130,677,322 (GRCm39) |
I177T |
possibly damaging |
Het |
Mtor |
T |
C |
4: 148,537,494 (GRCm39) |
S60P |
probably benign |
Het |
Naip6 |
T |
C |
13: 100,440,946 (GRCm39) |
E278G |
probably benign |
Het |
Pabpc6 |
A |
T |
17: 9,887,076 (GRCm39) |
S492T |
probably benign |
Het |
Pakap |
C |
T |
4: 57,757,627 (GRCm39) |
Q188* |
probably null |
Het |
Pom121 |
A |
T |
5: 135,420,560 (GRCm39) |
V287D |
unknown |
Het |
Ptprq |
A |
T |
10: 107,522,079 (GRCm39) |
F624Y |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,024,222 (GRCm39) |
T178A |
probably benign |
Het |
Pygm |
A |
G |
19: 6,441,424 (GRCm39) |
N473S |
probably benign |
Het |
Ros1 |
A |
T |
10: 51,996,905 (GRCm39) |
Y1256N |
probably damaging |
Het |
Scpep1 |
T |
C |
11: 88,832,154 (GRCm39) |
N192S |
possibly damaging |
Het |
Serpina1f |
A |
G |
12: 103,660,265 (GRCm39) |
S6P |
possibly damaging |
Het |
Sgca |
T |
A |
11: 94,863,113 (GRCm39) |
Q80L |
probably damaging |
Het |
Skint6 |
A |
G |
4: 112,661,879 (GRCm39) |
L1235P |
possibly damaging |
Het |
Slc23a2 |
A |
C |
2: 131,898,736 (GRCm39) |
N600K |
probably benign |
Het |
Spata20 |
T |
C |
11: 94,374,221 (GRCm39) |
T350A |
probably benign |
Het |
Syne1 |
G |
T |
10: 5,294,921 (GRCm39) |
Y1227* |
probably null |
Het |
Unc13c |
T |
C |
9: 73,840,479 (GRCm39) |
Y124C |
probably benign |
Het |
Usp40 |
G |
A |
1: 87,913,845 (GRCm39) |
T416I |
probably benign |
Het |
Vmn1r200 |
T |
C |
13: 22,579,571 (GRCm39) |
W116R |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,765,851 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,629,030 (GRCm39) |
V1469A |
probably damaging |
Het |
|
Other mutations in Nsun6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6890:Nsun6
|
UTSW |
2 |
15,053,788 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-06-21 |