Incidental Mutation 'R0684:Asxl1'
| ID |
61065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl1
|
| Ensembl Gene |
ENSMUSG00000042548 |
| Gene Name |
ASXL transcriptional regulator 1 |
| Synonyms |
|
| MMRRC Submission |
038869-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0684 (G1)
|
| Quality Score |
89 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153187750-153245927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 153239442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 410
(R410H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109790]
[ENSMUST00000227428]
|
| AlphaFold |
P59598 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109790
AA Change: R411H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: R411H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HARE-HTH
|
11 |
83 |
1.6e-20 |
PFAM |
|
low complexity region
|
199 |
209 |
N/A |
INTRINSIC |
|
Pfam:ASXH
|
236 |
361 |
5.9e-40 |
PFAM |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
986 |
1000 |
N/A |
INTRINSIC |
|
Pfam:PHD_3
|
1446 |
1512 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138571
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227428
AA Change: R410H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1794 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
| Validation Efficiency |
100% (69/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
| Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
| Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
| Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
| Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
| Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
| Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
| Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
| Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
| Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
| Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
| Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
| Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
| Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
probably benign |
Het |
|
| Other mutations in Asxl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01409:Asxl1
|
APN |
2 |
153,234,860 (GRCm39) |
splice site |
probably benign |
|
|
IGL01432:Asxl1
|
APN |
2 |
153,242,125 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01543:Asxl1
|
APN |
2 |
153,243,404 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02355:Asxl1
|
APN |
2 |
153,243,706 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02362:Asxl1
|
APN |
2 |
153,243,706 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02645:Asxl1
|
APN |
2 |
153,234,777 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02696:Asxl1
|
APN |
2 |
153,242,115 (GRCm39) |
nonsense |
probably null |
|
|
IGL03365:Asxl1
|
APN |
2 |
153,243,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Asxl1
|
APN |
2 |
153,242,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03377:Asxl1
|
APN |
2 |
153,238,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
astrophel
|
UTSW |
2 |
153,242,026 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
hairbrush
|
UTSW |
2 |
153,242,644 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0044:Asxl1
|
UTSW |
2 |
153,242,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0044:Asxl1
|
UTSW |
2 |
153,242,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0600:Asxl1
|
UTSW |
2 |
153,241,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0659:Asxl1
|
UTSW |
2 |
153,242,644 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0661:Asxl1
|
UTSW |
2 |
153,242,644 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1606:Asxl1
|
UTSW |
2 |
153,242,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1747:Asxl1
|
UTSW |
2 |
153,235,374 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1796:Asxl1
|
UTSW |
2 |
153,243,526 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1914:Asxl1
|
UTSW |
2 |
153,243,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Asxl1
|
UTSW |
2 |
153,194,187 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2373:Asxl1
|
UTSW |
2 |
153,243,820 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2910:Asxl1
|
UTSW |
2 |
153,242,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3620:Asxl1
|
UTSW |
2 |
153,199,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Asxl1
|
UTSW |
2 |
153,241,264 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4200:Asxl1
|
UTSW |
2 |
153,242,026 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4773:Asxl1
|
UTSW |
2 |
153,243,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Asxl1
|
UTSW |
2 |
153,241,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5100:Asxl1
|
UTSW |
2 |
153,239,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Asxl1
|
UTSW |
2 |
153,242,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5166:Asxl1
|
UTSW |
2 |
153,243,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Asxl1
|
UTSW |
2 |
153,241,504 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5701:Asxl1
|
UTSW |
2 |
153,241,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Asxl1
|
UTSW |
2 |
153,241,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5973:Asxl1
|
UTSW |
2 |
153,243,931 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6384:Asxl1
|
UTSW |
2 |
153,233,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7023:Asxl1
|
UTSW |
2 |
153,242,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7028:Asxl1
|
UTSW |
2 |
153,242,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7176:Asxl1
|
UTSW |
2 |
153,243,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Asxl1
|
UTSW |
2 |
153,239,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7378:Asxl1
|
UTSW |
2 |
153,243,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Asxl1
|
UTSW |
2 |
153,239,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7678:Asxl1
|
UTSW |
2 |
153,242,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Asxl1
|
UTSW |
2 |
153,233,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Asxl1
|
UTSW |
2 |
153,241,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Asxl1
|
UTSW |
2 |
153,238,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Asxl1
|
UTSW |
2 |
153,241,854 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8281:Asxl1
|
UTSW |
2 |
153,241,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Asxl1
|
UTSW |
2 |
153,235,345 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8383:Asxl1
|
UTSW |
2 |
153,235,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Asxl1
|
UTSW |
2 |
153,235,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Asxl1
|
UTSW |
2 |
153,239,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0024:Asxl1
|
UTSW |
2 |
153,243,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAACTGACTGCCGCTTGAC -3'
(R):5'- CTGTCCAGATGTTGCTGAGGACAC -3'
Sequencing Primer
(F):5'- TGCCGCTTGACAGTGAAG -3'
(R):5'- TTGCTGAGGACACATCTGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation