Incidental Mutation 'R4092:Noc2l'
| ID |
317657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noc2l
|
| Ensembl Gene |
ENSMUSG00000095567 |
| Gene Name |
NOC2 like nucleolar associated transcriptional repressor |
| Synonyms |
NIR |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156320376-156332073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 156327033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 295
(T295P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179543]
[ENSMUST00000179886]
[ENSMUST00000179919]
[ENSMUST00000217934]
[ENSMUST00000218788]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179543
AA Change: T452P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
AA Change: T452P
| 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: T295P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
AA Change: T295P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179919
|
| SMART Domains |
Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
410 |
N/A |
INTRINSIC |
|
SAM
|
411 |
478 |
1.82e-6 |
SMART |
|
low complexity region
|
486 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219866
|
| Meta Mutation Damage Score |
0.7528 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,055,903 (GRCm39) |
H340Q |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
| Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
| Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
| Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
| Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
| Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
| Efl1 |
A |
G |
7: 82,412,035 (GRCm39) |
E808G |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
| Fbp2 |
C |
T |
13: 62,988,174 (GRCm39) |
V246M |
possibly damaging |
Het |
| Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
| Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
| Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
| Paip1 |
T |
G |
13: 119,586,449 (GRCm39) |
S58A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,932 (GRCm39) |
S75P |
probably damaging |
Het |
| Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
| Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
| Srgap3 |
G |
T |
6: 112,700,045 (GRCm39) |
P1002T |
probably benign |
Het |
| Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
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 |
|
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'- GCACCAAGGCCAAGCATTTTG -3'
(R):5'- GTTAGCACTGGCAGACACAG -3'
Sequencing Primer
(F):5'- GCTGACTGTTTAAATTACTATTCCCC -3'
(R):5'- ACAGAGACGGAGGTGTGGTTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation