Incidental Mutation 'R5922:Noc2l'
| ID |
501721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noc2l
|
| Ensembl Gene |
ENSMUSG00000095567 |
| Gene Name |
NOC2 like nucleolar associated transcriptional repressor |
| Synonyms |
NIR |
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156320376-156332073 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 156325770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 182
(Q182*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179543]
[ENSMUST00000179886]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000179543
AA Change: Q339*
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: Q339*
| 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 null
Transcript: ENSMUST00000179886
AA Change: Q182*
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: Q182*
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
probably benign |
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 |
|
|
R1577:Noc2l
|
UTSW |
4 |
156,325,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCTGTACAGACCTAGCTCGAAG -3'
(R):5'- TGCCTGCGGTCATAGCATTC -3'
Sequencing Primer
(F):5'- CTGTACAGACCTAGCTCGAAGTAGAG -3'
(R):5'- CGGTCATAGCATTCCGCAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation