Incidental Mutation 'R7888:Nsun6'
| ID |
609143 |
| 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 |
045940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14999942-15059880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15001355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 400
(E400D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028034]
[ENSMUST00000076435]
[ENSMUST00000114715]
[ENSMUST00000195749]
|
| AlphaFold |
Q7TS68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028034
AA Change: E400D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: E400D
| 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: E400D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: E400D
| 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 benign
Transcript: ENSMUST00000114715
AA Change: E349D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: E349D
| 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 benign
Transcript: ENSMUST00000195749
AA Change: E400D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: E400D
| 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 |
0.0790 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
| Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
| Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
| Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
| Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
| Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,233,248 (GRCm39) |
T760A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
| Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
| Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,334 (GRCm39) |
M37L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
| Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
| Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
| Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
| Psme2b |
T |
A |
11: 48,836,402 (GRCm39) |
T182S |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,427,319 (GRCm39) |
Y633* |
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
| Slc16a13 |
T |
G |
11: 70,109,806 (GRCm39) |
I232L |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,249,217 (GRCm39) |
W269R |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
| Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
probably benign |
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 |
|
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 |
|
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'- TTTCTGAGAAACCTTCGCTTTTGTG -3'
(R):5'- TCCACCGCTCTTAGATTGGC -3'
Sequencing Primer
(F):5'- AGAAACCTTCGCTTTTGTGCTTTG -3'
(R):5'- AGATTGGCATGTGCATCTCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation