Incidental Mutation 'IGL00771:Asxl2'
ID |
409850 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Asxl2
|
Ensembl Gene |
ENSMUSG00000037486 |
Gene Name |
ASXL transcriptional regulator 2 |
Synonyms |
4930556B16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.929)
|
Stock # |
IGL00771
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3524560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 196
(H196R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092003]
[ENSMUST00000111215]
[ENSMUST00000144247]
[ENSMUST00000153102]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092003
AA Change: H196R
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000089629 Gene: ENSMUSG00000037486 AA Change: H196R
Domain | Start | End | E-Value | Type |
Pfam:HARE-HTH
|
11 |
83 |
1.2e-22 |
PFAM |
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
Pfam:ASXH
|
204 |
336 |
1.2e-52 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111215
AA Change: H196R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106846 Gene: ENSMUSG00000037486 AA Change: H196R
Domain | Start | End | E-Value | Type |
Pfam:HARE-HTH
|
11 |
83 |
3.6e-22 |
PFAM |
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
Pfam:ASXH
|
204 |
336 |
4.2e-52 |
PFAM |
low complexity region
|
614 |
637 |
N/A |
INTRINSIC |
low complexity region
|
640 |
658 |
N/A |
INTRINSIC |
low complexity region
|
849 |
870 |
N/A |
INTRINSIC |
low complexity region
|
1115 |
1124 |
N/A |
INTRINSIC |
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
Pfam:PHD_3
|
1305 |
1368 |
1.1e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138740
|
SMART Domains |
Protein: ENSMUSP00000133639 Gene: ENSMUSG00000037486
Domain | Start | End | E-Value | Type |
Pfam:HARE-HTH
|
1 |
54 |
1.2e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144247
AA Change: H196R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116048 Gene: ENSMUSG00000037486 AA Change: H196R
Domain | Start | End | E-Value | Type |
Pfam:HARE-HTH
|
11 |
83 |
5.2e-23 |
PFAM |
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
low complexity region
|
221 |
244 |
N/A |
INTRINSIC |
Pfam:ASXH
|
252 |
384 |
7e-54 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153102
AA Change: H196R
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117384 Gene: ENSMUSG00000037486 AA Change: H196R
Domain | Start | End | E-Value | Type |
Pfam:HARE-HTH
|
11 |
83 |
1.6e-23 |
PFAM |
low complexity region
|
95 |
122 |
N/A |
INTRINSIC |
low complexity region
|
126 |
154 |
N/A |
INTRINSIC |
low complexity region
|
162 |
185 |
N/A |
INTRINSIC |
Pfam:ASXH
|
211 |
335 |
6.9e-38 |
PFAM |
low complexity region
|
614 |
637 |
N/A |
INTRINSIC |
low complexity region
|
640 |
658 |
N/A |
INTRINSIC |
low complexity region
|
849 |
870 |
N/A |
INTRINSIC |
low complexity region
|
1115 |
1124 |
N/A |
INTRINSIC |
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
Pfam:PHD_3
|
1308 |
1368 |
7.6e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219208
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a homolog of the Drosophila Asx gene, which interacts with genes involved in axial patterning. Mice with mutations in this gene display abnormal patterning of the axial skeleton, suggesting a similar function in mice as in Drosophila. This gene may also be involved in bone mineral density, specifically osteoclastogenesis. [provided by RefSeq, Aug 2012] PHENOTYPE: Mice homozygous for a severe hypomorphic allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
G |
17: 48,452,855 (GRCm39) |
L28S |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,240,870 (GRCm39) |
L911Q |
probably damaging |
Het |
Armc9 |
C |
A |
1: 86,127,557 (GRCm39) |
|
probably null |
Het |
Atm |
T |
C |
9: 53,404,354 (GRCm39) |
D1329G |
probably benign |
Het |
Cds2 |
T |
C |
2: 132,146,272 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
T |
9: 15,233,861 (GRCm39) |
C2184S |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,394,890 (GRCm39) |
F623L |
possibly damaging |
Het |
Dmd |
G |
A |
X: 82,951,978 (GRCm39) |
|
probably null |
Het |
F11r |
T |
A |
1: 171,290,510 (GRCm39) |
|
probably null |
Het |
Gbp3 |
C |
T |
3: 142,271,005 (GRCm39) |
|
probably benign |
Het |
Gpc4 |
A |
G |
X: 51,163,527 (GRCm39) |
S119P |
possibly damaging |
Het |
H2-M10.2 |
A |
G |
17: 36,597,288 (GRCm39) |
L9P |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,053,106 (GRCm39) |
D144G |
probably damaging |
Het |
Jaml |
A |
G |
9: 45,005,105 (GRCm39) |
K124E |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,005,802 (GRCm39) |
N950S |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,669,511 (GRCm39) |
D1099V |
probably damaging |
Het |
Mlxipl |
C |
T |
5: 135,161,632 (GRCm39) |
T517I |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,274,512 (GRCm39) |
R308C |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,013,567 (GRCm39) |
L561* |
probably null |
Het |
Prom1 |
A |
T |
5: 44,187,118 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
A |
1: 138,041,415 (GRCm39) |
E148V |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,443,835 (GRCm39) |
V224A |
probably damaging |
Het |
Slc7a6 |
T |
C |
8: 106,905,872 (GRCm39) |
S35P |
probably benign |
Het |
Snx17 |
C |
T |
5: 31,354,679 (GRCm39) |
R314C |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,982,231 (GRCm39) |
L371P |
probably damaging |
Het |
Spsb1 |
C |
T |
4: 149,991,564 (GRCm39) |
M1I |
probably null |
Het |
Sv2a |
G |
A |
3: 96,100,600 (GRCm39) |
V661I |
probably benign |
Het |
Taar7b |
T |
A |
10: 23,876,096 (GRCm39) |
V87E |
probably benign |
Het |
Tcf7l2 |
G |
A |
19: 55,905,853 (GRCm39) |
V292I |
probably damaging |
Het |
Teddm1b |
T |
A |
1: 153,750,340 (GRCm39) |
C50S |
possibly damaging |
Het |
Trmt10a |
A |
G |
3: 137,856,216 (GRCm39) |
D159G |
probably benign |
Het |
Urod |
T |
C |
4: 116,847,581 (GRCm39) |
N336S |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,567,353 (GRCm39) |
|
probably null |
Het |
Zfp182 |
A |
G |
X: 20,896,896 (GRCm39) |
Y467H |
probably damaging |
Het |
|
Other mutations in Asxl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01301:Asxl2
|
APN |
12 |
3,551,425 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01325:Asxl2
|
APN |
12 |
3,477,172 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01689:Asxl2
|
APN |
12 |
3,546,425 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01871:Asxl2
|
APN |
12 |
3,552,112 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02164:Asxl2
|
APN |
12 |
3,552,079 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02609:Asxl2
|
APN |
12 |
3,550,018 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03191:Asxl2
|
APN |
12 |
3,550,094 (GRCm39) |
missense |
probably damaging |
1.00 |
Blinder
|
UTSW |
12 |
3,492,529 (GRCm39) |
missense |
probably damaging |
0.99 |
Fob
|
UTSW |
12 |
3,534,531 (GRCm39) |
missense |
probably damaging |
1.00 |
peaky
|
UTSW |
12 |
3,526,040 (GRCm39) |
missense |
possibly damaging |
0.91 |
ANU18:Asxl2
|
UTSW |
12 |
3,551,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Asxl2
|
UTSW |
12 |
3,546,313 (GRCm39) |
missense |
probably benign |
0.00 |
R0118:Asxl2
|
UTSW |
12 |
3,546,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R0277:Asxl2
|
UTSW |
12 |
3,492,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Asxl2
|
UTSW |
12 |
3,492,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R0584:Asxl2
|
UTSW |
12 |
3,546,632 (GRCm39) |
missense |
probably damaging |
0.96 |
R0885:Asxl2
|
UTSW |
12 |
3,551,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1344:Asxl2
|
UTSW |
12 |
3,543,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1456:Asxl2
|
UTSW |
12 |
3,551,872 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1829:Asxl2
|
UTSW |
12 |
3,507,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Asxl2
|
UTSW |
12 |
3,524,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Asxl2
|
UTSW |
12 |
3,534,558 (GRCm39) |
nonsense |
probably null |
|
R2074:Asxl2
|
UTSW |
12 |
3,543,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R2883:Asxl2
|
UTSW |
12 |
3,551,830 (GRCm39) |
missense |
probably benign |
0.03 |
R2912:Asxl2
|
UTSW |
12 |
3,524,517 (GRCm39) |
missense |
probably benign |
0.06 |
R4446:Asxl2
|
UTSW |
12 |
3,551,774 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4662:Asxl2
|
UTSW |
12 |
3,477,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R4726:Asxl2
|
UTSW |
12 |
3,551,872 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5034:Asxl2
|
UTSW |
12 |
3,552,193 (GRCm39) |
missense |
probably damaging |
0.98 |
R5287:Asxl2
|
UTSW |
12 |
3,546,893 (GRCm39) |
missense |
probably benign |
0.02 |
R5377:Asxl2
|
UTSW |
12 |
3,524,618 (GRCm39) |
splice site |
probably null |
|
R5611:Asxl2
|
UTSW |
12 |
3,534,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R5708:Asxl2
|
UTSW |
12 |
3,550,603 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5945:Asxl2
|
UTSW |
12 |
3,550,439 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6154:Asxl2
|
UTSW |
12 |
3,546,593 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6288:Asxl2
|
UTSW |
12 |
3,526,040 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6405:Asxl2
|
UTSW |
12 |
3,543,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R6938:Asxl2
|
UTSW |
12 |
3,526,149 (GRCm39) |
missense |
probably damaging |
0.98 |
R7146:Asxl2
|
UTSW |
12 |
3,507,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7354:Asxl2
|
UTSW |
12 |
3,505,637 (GRCm39) |
intron |
probably benign |
|
R7396:Asxl2
|
UTSW |
12 |
3,492,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R7438:Asxl2
|
UTSW |
12 |
3,477,108 (GRCm39) |
start gained |
probably benign |
|
R7980:Asxl2
|
UTSW |
12 |
3,546,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R7991:Asxl2
|
UTSW |
12 |
3,534,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R8063:Asxl2
|
UTSW |
12 |
3,550,768 (GRCm39) |
missense |
probably benign |
0.01 |
R8156:Asxl2
|
UTSW |
12 |
3,546,760 (GRCm39) |
missense |
probably benign |
0.09 |
R8396:Asxl2
|
UTSW |
12 |
3,552,220 (GRCm39) |
missense |
probably benign |
|
R8773:Asxl2
|
UTSW |
12 |
3,507,200 (GRCm39) |
missense |
probably damaging |
0.97 |
R8792:Asxl2
|
UTSW |
12 |
3,546,536 (GRCm39) |
missense |
probably benign |
0.00 |
R8827:Asxl2
|
UTSW |
12 |
3,550,501 (GRCm39) |
missense |
probably benign |
|
R9221:Asxl2
|
UTSW |
12 |
3,552,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R9584:Asxl2
|
UTSW |
12 |
3,550,667 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9796:Asxl2
|
UTSW |
12 |
3,546,508 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Asxl2
|
UTSW |
12 |
3,524,589 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2016-08-02 |