Incidental Mutation 'R7693:Noc2l'
| ID |
593487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noc2l
|
| Ensembl Gene |
ENSMUSG00000095567 |
| Gene Name |
NOC2 like nucleolar associated transcriptional repressor |
| Synonyms |
NIR |
| MMRRC Submission |
045708-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156320376-156332073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156324764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 280
(H280Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137253
(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: H280Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: H280Q
| 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: H123Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: H123Q
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
| Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
| Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
| Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
| Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
| Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
| Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
| Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
| Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
| Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
| Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
| Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
| Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
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 |
|
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 |
|
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'- CTCCGTGTGGATGTCAAGAC -3'
(R):5'- CCTAGTCTCACATTACTAAGCCACG -3'
Sequencing Primer
(F):5'- TGTCAAGACATACCTAAGTGCG -3'
(R):5'- TAAGCCACGCTGTCCTGAAAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation