Incidental Mutation 'R2972:Nsun6'
| ID |
255231 |
| Institutional Source |
Beutler Lab
|
| 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: 0.106)
|
| Stock # |
R2972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
14999942-15059880 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 15042883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028034]
[ENSMUST00000076435]
[ENSMUST00000114713]
[ENSMUST00000114715]
[ENSMUST00000195749]
|
| AlphaFold |
Q7TS68 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028034
|
| SMART Domains |
Protein: ENSMUSP00000028034
Gene: ENSMUSG00000026707
| 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 null
Transcript: ENSMUST00000076435
|
| SMART Domains |
Protein: ENSMUSP00000075766
Gene: ENSMUSG00000026707
| 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: ENSMUST00000114713
|
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000195431
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195749
|
| SMART Domains |
Protein: ENSMUSP00000141924
Gene: ENSMUSG00000026707
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Card9 |
C |
T |
2: 26,247,222 (GRCm39) |
R309H |
probably damaging |
Het |
| Clec14a |
T |
A |
12: 58,314,360 (GRCm39) |
R421W |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,697 (GRCm39) |
I285N |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
| Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
| Or4a69 |
G |
T |
2: 89,313,120 (GRCm39) |
R120S |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,984,627 (GRCm39) |
L309* |
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACTCACCACTAGCTTC -3'
(R):5'- ACAGATAACCGTTTTAGCTTGAAGG -3'
Sequencing Primer
(F):5'- ATCCACATCCTACTGCTTTGG -3'
(R):5'- GCTAAAGCACAGGTTAACAGTTTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation