Incidental Mutation 'R5536:Nol10'
| ID |
434838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol10
|
| Ensembl Gene |
ENSMUSG00000061458 |
| Gene Name |
nucleolar protein 10 |
| Synonyms |
LOC217431 |
| MMRRC Submission |
043094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5536 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
17398459-17480096 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 17466138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 511
(S511*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046011]
|
| AlphaFold |
Q5RJG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046011
AA Change: S511*
|
| SMART Domains |
Protein: ENSMUSP00000035930
Gene: ENSMUSG00000061458
AA Change: S511*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
42 |
81 |
1.1e1 |
SMART |
|
Blast:WD40
|
84 |
123 |
1e-8 |
BLAST |
|
WD40
|
165 |
204 |
3.3e1 |
SMART |
|
WD40
|
223 |
257 |
4.42e1 |
SMART |
|
WD40
|
260 |
299 |
1.19e1 |
SMART |
|
WD40
|
302 |
340 |
1.97e2 |
SMART |
|
low complexity region
|
451 |
476 |
N/A |
INTRINSIC |
|
Pfam:NUC153
|
482 |
509 |
1.4e-15 |
PFAM |
|
low complexity region
|
515 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
coiled coil region
|
557 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
| Aadac |
T |
G |
3: 59,946,984 (GRCm39) |
N227K |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
| Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
| Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
| E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
| Evc |
A |
G |
5: 37,483,927 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
| Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
| Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
| Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
| Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
| Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
| Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
| Plekha1 |
G |
T |
7: 130,511,331 (GRCm39) |
R305I |
probably damaging |
Het |
| Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
| Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,200,446 (GRCm39) |
S80P |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
| Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
| Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
| Vmn2r54 |
A |
C |
7: 12,366,343 (GRCm39) |
V197G |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,714,642 (GRCm39) |
P1049Q |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
| Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Nol10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Nol10
|
APN |
12 |
17,411,130 (GRCm39) |
splice site |
probably benign |
|
|
R1769:Nol10
|
UTSW |
12 |
17,466,709 (GRCm39) |
splice site |
probably benign |
|
|
R1884:Nol10
|
UTSW |
12 |
17,418,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1930:Nol10
|
UTSW |
12 |
17,398,555 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R1931:Nol10
|
UTSW |
12 |
17,398,555 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2010:Nol10
|
UTSW |
12 |
17,466,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2037:Nol10
|
UTSW |
12 |
17,411,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2168:Nol10
|
UTSW |
12 |
17,423,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3729:Nol10
|
UTSW |
12 |
17,474,674 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3731:Nol10
|
UTSW |
12 |
17,474,674 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4368:Nol10
|
UTSW |
12 |
17,429,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Nol10
|
UTSW |
12 |
17,398,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4736:Nol10
|
UTSW |
12 |
17,405,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:Nol10
|
UTSW |
12 |
17,419,621 (GRCm39) |
splice site |
probably null |
|
|
R5451:Nol10
|
UTSW |
12 |
17,409,103 (GRCm39) |
nonsense |
probably null |
|
|
R5586:Nol10
|
UTSW |
12 |
17,466,829 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6045:Nol10
|
UTSW |
12 |
17,398,479 (GRCm39) |
start gained |
probably benign |
|
|
R6833:Nol10
|
UTSW |
12 |
17,402,728 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7039:Nol10
|
UTSW |
12 |
17,479,185 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7189:Nol10
|
UTSW |
12 |
17,423,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7251:Nol10
|
UTSW |
12 |
17,452,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Nol10
|
UTSW |
12 |
17,452,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7600:Nol10
|
UTSW |
12 |
17,419,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7650:Nol10
|
UTSW |
12 |
17,412,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7729:Nol10
|
UTSW |
12 |
17,474,676 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7772:Nol10
|
UTSW |
12 |
17,398,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Nol10
|
UTSW |
12 |
17,408,239 (GRCm39) |
missense |
probably null |
0.93 |
|
R7972:Nol10
|
UTSW |
12 |
17,402,648 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8686:Nol10
|
UTSW |
12 |
17,419,772 (GRCm39) |
intron |
probably benign |
|
|
R8926:Nol10
|
UTSW |
12 |
17,466,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8936:Nol10
|
UTSW |
12 |
17,466,863 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8966:Nol10
|
UTSW |
12 |
17,419,507 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8994:Nol10
|
UTSW |
12 |
17,402,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Nol10
|
UTSW |
12 |
17,408,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Nol10
|
UTSW |
12 |
17,466,199 (GRCm39) |
missense |
probably benign |
|
|
R9196:Nol10
|
UTSW |
12 |
17,455,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9548:Nol10
|
UTSW |
12 |
17,466,144 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1177:Nol10
|
UTSW |
12 |
17,409,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCAAGAATTATCAATCAGCTG -3'
(R):5'- AAGTGTCCTTATGCAACACAGG -3'
Sequencing Primer
(F):5'- TGTTTTGTTGTTGGAAAGTAAAACC -3'
(R):5'- TTATGCAACACAGGGCCATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation