Incidental Mutation 'R4386:Nsun6'
| ID |
326207 |
| 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 |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14999942-15059880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15001333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 408
(M408L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028034]
[ENSMUST00000076435]
[ENSMUST00000114715]
[ENSMUST00000195749]
|
| AlphaFold |
Q7TS68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028034
AA Change: M408L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
AA Change: M408L
| 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: M408L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
AA Change: M408L
| 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: M357L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110363
Gene: ENSMUSG00000026707
AA Change: M357L
| 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: M408L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
AA Change: M408L
| 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 |
0.0799 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTCTGAGAAACCTTCGCTTTTG -3'
(R):5'- TCCACCGCTCTTAGATTGGC -3'
Sequencing Primer
(F):5'- AGAAACCTTCGCTTTTGTGCTTTG -3'
(R):5'- AGATTGGCATGTGCATCTCAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation