Incidental Mutation 'R4369:Noc2l'
| ID |
325886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noc2l
|
| Ensembl Gene |
ENSMUSG00000095567 |
| Gene Name |
NOC2 like nucleolar associated transcriptional repressor |
| Synonyms |
NIR |
| MMRRC Submission |
041116-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4369 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156320376-156332073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156321853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 84
(D84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105569]
[ENSMUST00000179543]
[ENSMUST00000179886]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105569
|
| SMART Domains |
Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
50 |
N/A |
INTRINSIC |
|
BTB
|
90 |
187 |
3.55e-30 |
SMART |
|
BACK
|
192 |
294 |
1.08e-42 |
SMART |
|
Kelch
|
341 |
387 |
4.01e-8 |
SMART |
|
Kelch
|
388 |
434 |
5.41e-14 |
SMART |
|
Kelch
|
435 |
481 |
6.97e-17 |
SMART |
|
Kelch
|
482 |
528 |
1.55e-14 |
SMART |
|
Kelch
|
529 |
575 |
2.02e-13 |
SMART |
|
Kelch
|
576 |
622 |
1.34e-9 |
SMART |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179543
AA Change: D84G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: D84G
| 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 benign
Transcript: ENSMUST00000179886
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,042 (GRCm39) |
|
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,048 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc1 |
T |
G |
16: 14,278,857 (GRCm39) |
S1056A |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,779 (GRCm39) |
K4* |
probably null |
Het |
| Amph |
T |
A |
13: 19,321,870 (GRCm39) |
S516R |
probably benign |
Het |
| Apoh |
T |
C |
11: 108,288,205 (GRCm39) |
F108L |
probably damaging |
Het |
| Arg2 |
T |
C |
12: 79,196,746 (GRCm39) |
S156P |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,207,815 (GRCm39) |
L582* |
probably null |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,943,742 (GRCm39) |
V275D |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Cpd |
T |
C |
11: 76,688,537 (GRCm39) |
N912D |
possibly damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,412,658 (GRCm39) |
I440T |
probably damaging |
Het |
| Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
| Dpep2 |
T |
G |
8: 106,711,707 (GRCm39) |
L573F |
probably benign |
Het |
| Ebag9 |
T |
C |
15: 44,491,865 (GRCm39) |
S86P |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,330 (GRCm39) |
Y466H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,239,164 (GRCm39) |
E84G |
probably damaging |
Het |
| Ffar1 |
A |
G |
7: 30,560,033 (GRCm39) |
I288T |
probably benign |
Het |
| Flnb |
C |
T |
14: 7,942,216 (GRCm38) |
T2398I |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,751,496 (GRCm39) |
F16S |
possibly damaging |
Het |
| Golgb1 |
A |
G |
16: 36,737,269 (GRCm39) |
E2172G |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,580,560 (GRCm39) |
H161L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,386,155 (GRCm39) |
N3457S |
possibly damaging |
Het |
| Map7d1 |
A |
T |
4: 126,128,866 (GRCm39) |
S436T |
probably damaging |
Het |
| Nmral1 |
T |
C |
16: 4,532,394 (GRCm39) |
Y139C |
probably damaging |
Het |
| Or2a25 |
T |
A |
6: 42,889,211 (GRCm39) |
Y251* |
probably null |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,045,018 (GRCm39) |
S386P |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,618,791 (GRCm39) |
H283R |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,139,796 (GRCm39) |
V475A |
possibly damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,386 (GRCm39) |
I212T |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,368,949 (GRCm39) |
R865W |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,708 (GRCm39) |
T691A |
probably benign |
Het |
| Rnf121 |
T |
C |
7: 101,673,313 (GRCm39) |
D206G |
probably benign |
Het |
| Rnf122 |
T |
A |
8: 31,602,177 (GRCm39) |
M1K |
probably null |
Het |
| Shank2 |
T |
C |
7: 143,733,518 (GRCm39) |
S22P |
probably damaging |
Het |
| Smg6 |
C |
T |
11: 74,823,269 (GRCm39) |
R175* |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,468,907 (GRCm39) |
C557Y |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,242 (GRCm39) |
|
probably benign |
Het |
| Trgv4 |
T |
C |
13: 19,369,567 (GRCm39) |
Y104H |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,594,345 (GRCm39) |
W18788* |
probably null |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,914 (GRCm39) |
I638F |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,229 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- AACAATGTCAGAGGTGCTGTG -3'
(R):5'- CTGGGACGGTGTATAGAAACC -3'
Sequencing Primer
(F):5'- AGGCAAGCCCGATGGTCATC -3'
(R):5'- GTGTATAGAAACCACAGGTGCCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation