Incidental Mutation 'R3895:Nol11'
| ID |
310508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol11
|
| Ensembl Gene |
ENSMUSG00000018433 |
| Gene Name |
nucleolar protein 11 |
| Synonyms |
1500002M01Rik |
| MMRRC Submission |
040806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R3895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
107057489-107080207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107059173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 644
(V644F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018577]
[ENSMUST00000106757]
|
| AlphaFold |
Q8BJW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018577
AA Change: V664F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: V664F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jmxb_
|
32 |
176 |
3e-3 |
SMART |
|
Pfam:NUC205
|
200 |
243 |
3.7e-26 |
PFAM |
|
low complexity region
|
619 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106757
AA Change: V644F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: V644F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jmxb_
|
32 |
176 |
3e-3 |
SMART |
|
Pfam:NUC205
|
200 |
243 |
7.3e-29 |
PFAM |
|
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129501
|
| Meta Mutation Damage Score |
0.4176 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,445 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,837,952 (GRCm39) |
V854A |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,631 (GRCm39) |
E136G |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,840,441 (GRCm39) |
F422I |
probably benign |
Het |
| Csta1 |
T |
C |
16: 35,951,402 (GRCm39) |
T7A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,028,865 (GRCm39) |
E23G |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,044,556 (GRCm39) |
R286S |
probably damaging |
Het |
| Gm12258 |
T |
G |
11: 58,749,375 (GRCm39) |
Y183* |
probably null |
Het |
| Gvin-ps6 |
T |
A |
7: 106,022,621 (GRCm39) |
H127L |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,853,286 (GRCm39) |
D171G |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,513,136 (GRCm39) |
R134W |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,251,278 (GRCm39) |
T246A |
unknown |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,662,352 (GRCm39) |
P52L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,899,388 (GRCm39) |
D2148G |
probably null |
Het |
| Med24 |
A |
G |
11: 98,597,214 (GRCm39) |
S889P |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,736,054 (GRCm39) |
M851K |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,484,602 (GRCm39) |
L710H |
probably damaging |
Het |
| Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,461,863 (GRCm39) |
S574R |
probably damaging |
Het |
| Nusap1 |
C |
A |
2: 119,458,172 (GRCm39) |
Q103K |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 94,124,974 (GRCm39) |
V399M |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,102,006 (GRCm39) |
S359P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,743 (GRCm39) |
A530V |
probably benign |
Het |
| Rho |
A |
G |
6: 115,910,863 (GRCm39) |
Y136C |
probably damaging |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,504 (GRCm39) |
N564D |
probably damaging |
Het |
| Sart3 |
G |
A |
5: 113,890,488 (GRCm39) |
R452* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,046,298 (GRCm39) |
I300V |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,756,651 (GRCm39) |
K553R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,355,456 (GRCm39) |
V375A |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,516,804 (GRCm39) |
E28G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,818,786 (GRCm39) |
K1292R |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,890 (GRCm39) |
T108A |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,840,805 (GRCm39) |
H15Q |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,596 (GRCm39) |
S208P |
possibly damaging |
Het |
|
| Other mutations in Nol11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00646:Nol11
|
APN |
11 |
107,064,286 (GRCm39) |
missense |
probably benign |
|
|
IGL01656:Nol11
|
APN |
11 |
107,079,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01687:Nol11
|
APN |
11 |
107,077,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02179:Nol11
|
APN |
11 |
107,080,082 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02538:Nol11
|
APN |
11 |
107,064,199 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03395:Nol11
|
APN |
11 |
107,066,548 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0526:Nol11
|
UTSW |
11 |
107,075,597 (GRCm39) |
nonsense |
probably null |
|
|
R1734:Nol11
|
UTSW |
11 |
107,066,449 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2143:Nol11
|
UTSW |
11 |
107,071,881 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2385:Nol11
|
UTSW |
11 |
107,080,032 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3036:Nol11
|
UTSW |
11 |
107,064,070 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3522:Nol11
|
UTSW |
11 |
107,064,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4404:Nol11
|
UTSW |
11 |
107,064,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Nol11
|
UTSW |
11 |
107,071,826 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4705:Nol11
|
UTSW |
11 |
107,075,544 (GRCm39) |
intron |
probably benign |
|
|
R5704:Nol11
|
UTSW |
11 |
107,064,195 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5991:Nol11
|
UTSW |
11 |
107,061,971 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6221:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6222:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6223:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6285:Nol11
|
UTSW |
11 |
107,071,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6467:Nol11
|
UTSW |
11 |
107,071,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7080:Nol11
|
UTSW |
11 |
107,070,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Nol11
|
UTSW |
11 |
107,064,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7767:Nol11
|
UTSW |
11 |
107,069,908 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8831:Nol11
|
UTSW |
11 |
107,067,662 (GRCm39) |
missense |
probably benign |
|
|
R9063:Nol11
|
UTSW |
11 |
107,069,857 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9063:Nol11
|
UTSW |
11 |
107,064,240 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9329:Nol11
|
UTSW |
11 |
107,071,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Nol11
|
UTSW |
11 |
107,064,505 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9473:Nol11
|
UTSW |
11 |
107,075,581 (GRCm39) |
missense |
probably null |
0.81 |
|
R9515:Nol11
|
UTSW |
11 |
107,064,278 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9771:Nol11
|
UTSW |
11 |
107,069,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAAGCTATGCTCCAACC -3'
(R):5'- AGTGCTAAGTGCTGGATTAGATCG -3'
Sequencing Primer
(F):5'- ACCTACAGACTCATGCTCTGG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation