Incidental Mutation 'R3729:Nol10'
| ID |
270891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol10
|
| Ensembl Gene |
ENSMUSG00000061458 |
| Gene Name |
nucleolar protein 10 |
| Synonyms |
LOC217431 |
| MMRRC Submission |
040719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R3729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
17398459-17480096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17474674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 622
(K622I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046011]
|
| AlphaFold |
Q5RJG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046011
AA Change: K622I
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035930
Gene: ENSMUSG00000061458
AA Change: K622I
| 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 |
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
| Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,895,047 (GRCm39) |
Y739F |
possibly damaging |
Het |
| Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
| Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
| Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,729,276 (GRCm38) |
E47D |
probably damaging |
Het |
| Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,788,224 (GRCm39) |
N74D |
possibly damaging |
Het |
| Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
| Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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 |
|
|
R5536:Nol10
|
UTSW |
12 |
17,466,138 (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'- ATGACAGTTTGAGGGCAGC -3'
(R):5'- CTCTGGCTATAGGAAACACTGG -3'
Sequencing Primer
(F):5'- ACAGTTTGAGGGCAGCTGACTC -3'
(R):5'- CTGGAGTAGGGAACACAGCTTTCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation