Incidental Mutation 'IGL03191:Asxl2'
| ID |
412657 |
| 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 # |
IGL03191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3550094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 612
(D612G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092003]
[ENSMUST00000111215]
[ENSMUST00000144247]
[ENSMUST00000153102]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092003
|
| SMART Domains |
Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
| 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: D612G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: D612G
| 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 |
probably benign
Transcript: ENSMUST00000144247
|
| SMART Domains |
Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
| 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 |
noncoding transcript
Transcript: ENSMUST00000152196
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153102
AA Change: D612G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: D612G
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,398,228 (GRCm39) |
D1323G |
probably null |
Het |
| Cacna1c |
A |
T |
6: 118,718,864 (GRCm39) |
F395L |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,283,198 (GRCm39) |
S380P |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,746,883 (GRCm39) |
E31G |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,203,364 (GRCm39) |
M1031V |
probably benign |
Het |
| Colgalt1 |
C |
A |
8: 72,075,731 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,310,738 (GRCm39) |
I138V |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,945,804 (GRCm39) |
V1827A |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,015,986 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,621,969 (GRCm39) |
L494Q |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,252,693 (GRCm39) |
H422Y |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,662,326 (GRCm39) |
V324A |
probably damaging |
Het |
| Hcfc1 |
T |
C |
X: 72,999,220 (GRCm39) |
I309V |
probably benign |
Het |
| Il24 |
T |
C |
1: 130,812,584 (GRCm39) |
T96A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,973,020 (GRCm39) |
|
probably benign |
Het |
| Lrrc32 |
A |
G |
7: 98,147,454 (GRCm39) |
H78R |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,909,707 (GRCm39) |
E2001G |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,336,392 (GRCm39) |
M199K |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,362 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Msh4 |
G |
A |
3: 153,575,245 (GRCm39) |
T710M |
probably damaging |
Het |
| Pate8 |
T |
C |
9: 36,492,698 (GRCm39) |
D69G |
probably benign |
Het |
| Pilrb1 |
A |
T |
5: 137,853,227 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,712,693 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,048,009 (GRCm39) |
Q817L |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,865,184 (GRCm39) |
D163G |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
| Zfp641 |
C |
T |
15: 98,186,568 (GRCm39) |
V352M |
probably damaging |
Het |
|
| Other mutations in Asxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Asxl2
|
APN |
12 |
3,524,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
Incidental Mutation