Incidental Mutation 'R1577:Noc2l'
| ID |
171213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noc2l
|
| Ensembl Gene |
ENSMUSG00000095567 |
| Gene Name |
NOC2 like nucleolar associated transcriptional repressor |
| Synonyms |
NIR |
| MMRRC Submission |
039615-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156320376-156332073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156325079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 151
(T151M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179543]
[ENSMUST00000179886]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179543
AA Change: T308M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: T308M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
139 |
N/A |
INTRINSIC |
|
Pfam:Noc2
|
331 |
626 |
1.8e-128 |
PFAM |
|
low complexity region
|
651 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179886
AA Change: T151M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: T151M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Noc2
|
172 |
470 |
1.2e-117 |
PFAM |
|
low complexity region
|
494 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
593 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice lacking expression of this gene display embryonic lethality prior to the tooth bud stage. Mice with an immune cell deletion display impaired T and B cell differentiation with a cell cycle defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
| Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
| Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
| Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
| Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
| Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
| Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
| Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
| Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
| Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
| Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
| Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
| Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
| Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
| Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
| Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
| Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
| Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
probably damaging |
Het |
|
| Other mutations in Noc2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4304:Noc2l
|
UTSW |
4 |
156,324,553 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Noc2l
|
UTSW |
4 |
156,324,558 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Noc2l
|
UTSW |
4 |
156,324,557 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Noc2l
|
UTSW |
4 |
156,324,549 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Noc2l
|
UTSW |
4 |
156,325,958 (GRCm39) |
critical splice donor site |
probably benign |
|
|
FR4737:Noc2l
|
UTSW |
4 |
156,324,552 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Noc2l
|
UTSW |
4 |
156,324,551 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Noc2l
|
UTSW |
4 |
156,324,555 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Noc2l
|
UTSW |
4 |
156,324,549 (GRCm39) |
small insertion |
probably benign |
|
|
R1633:Noc2l
|
UTSW |
4 |
156,329,750 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1858:Noc2l
|
UTSW |
4 |
156,329,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Noc2l
|
UTSW |
4 |
156,322,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Noc2l
|
UTSW |
4 |
156,325,907 (GRCm39) |
nonsense |
probably null |
|
|
R2862:Noc2l
|
UTSW |
4 |
156,321,907 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4092:Noc2l
|
UTSW |
4 |
156,327,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Noc2l
|
UTSW |
4 |
156,321,853 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4964:Noc2l
|
UTSW |
4 |
156,330,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4966:Noc2l
|
UTSW |
4 |
156,330,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5922:Noc2l
|
UTSW |
4 |
156,325,770 (GRCm39) |
nonsense |
probably null |
|
|
R7081:Noc2l
|
UTSW |
4 |
156,331,477 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7171:Noc2l
|
UTSW |
4 |
156,326,179 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7315:Noc2l
|
UTSW |
4 |
156,325,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7317:Noc2l
|
UTSW |
4 |
156,323,673 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7581:Noc2l
|
UTSW |
4 |
156,329,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7690:Noc2l
|
UTSW |
4 |
156,322,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7693:Noc2l
|
UTSW |
4 |
156,324,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Noc2l
|
UTSW |
4 |
156,326,187 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8542:Noc2l
|
UTSW |
4 |
156,326,187 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9081:Noc2l
|
UTSW |
4 |
156,326,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Noc2l
|
UTSW |
4 |
156,325,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Noc2l
|
UTSW |
4 |
156,320,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9406:Noc2l
|
UTSW |
4 |
156,320,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9439:Noc2l
|
UTSW |
4 |
156,326,130 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9448:Noc2l
|
UTSW |
4 |
156,320,781 (GRCm39) |
missense |
probably benign |
|
|
R9733:Noc2l
|
UTSW |
4 |
156,328,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGCCGAATGTTGCTCAAG -3'
(R):5'- TCTCGTACCCAGAGGAAAAGAGCC -3'
Sequencing Primer
(F):5'- CCGAATGTTGCTCAAGGTACG -3'
(R):5'- ACCATCACCCAATTTTCTTGGTAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation