Incidental Mutation 'R5377:Asxl2'
| ID |
425634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
042845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R5377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 3524618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
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 null
Transcript: ENSMUST00000111215
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
| 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 null
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 |
probably null
Transcript: ENSMUST00000153102
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
T |
6: 121,622,212 (GRCm39) |
V372F |
probably benign |
Het |
| Adcy10 |
G |
A |
1: 165,347,464 (GRCm39) |
C393Y |
probably damaging |
Het |
| Adgrg7 |
A |
C |
16: 56,550,669 (GRCm39) |
I681S |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,540,485 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,497,092 (GRCm39) |
V156E |
probably damaging |
Het |
| Alk |
T |
G |
17: 72,202,734 (GRCm39) |
D1167A |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,453 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,385,221 (GRCm39) |
N288K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,398,133 (GRCm39) |
|
probably null |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,413 (GRCm39) |
H802R |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,007,691 (GRCm39) |
T531A |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,733,530 (GRCm39) |
N506D |
possibly damaging |
Het |
| Crebrf |
T |
C |
17: 26,978,839 (GRCm39) |
V509A |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,590 (GRCm39) |
I413F |
probably null |
Het |
| Defb12 |
C |
A |
8: 19,164,342 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,312,674 (GRCm39) |
E4297G |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,948,857 (GRCm39) |
N371Y |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,565,783 (GRCm39) |
Q416* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,536,222 (GRCm39) |
L284P |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,287,739 (GRCm39) |
I595F |
probably benign |
Het |
| Gm9920 |
A |
G |
15: 54,972,371 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,981,084 (GRCm39) |
K783E |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,277 (GRCm39) |
S1052P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 58,002,252 (GRCm39) |
I192V |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,586,803 (GRCm39) |
D722G |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,672,216 (GRCm39) |
V1080A |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,613,656 (GRCm39) |
G504S |
probably damaging |
Het |
| Lrit2 |
A |
C |
14: 36,791,140 (GRCm39) |
Q273P |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,054,569 (GRCm39) |
E189D |
probably benign |
Het |
| Mttp |
C |
T |
3: 137,810,790 (GRCm39) |
R608H |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,238,908 (GRCm39) |
V2011A |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,848,317 (GRCm39) |
I1075F |
probably benign |
Het |
| Npat |
A |
G |
9: 53,461,336 (GRCm39) |
|
probably null |
Het |
| Nucks1 |
T |
C |
1: 131,846,771 (GRCm39) |
F16L |
probably damaging |
Het |
| Nus1 |
T |
C |
10: 52,305,309 (GRCm39) |
S150P |
possibly damaging |
Het |
| Odad1 |
C |
T |
7: 45,591,506 (GRCm39) |
R257* |
probably null |
Het |
| Oga |
A |
T |
19: 45,746,461 (GRCm39) |
Y779* |
probably null |
Het |
| Or4c123 |
G |
T |
2: 89,127,506 (GRCm39) |
T36K |
probably damaging |
Het |
| Or8b35 |
A |
T |
9: 37,903,908 (GRCm39) |
Y40F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,367 (GRCm39) |
T3290A |
unknown |
Het |
| Pign |
A |
T |
1: 105,585,537 (GRCm39) |
F4Y |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,696,406 (GRCm39) |
N233D |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,397,652 (GRCm39) |
M1325L |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scaf11 |
T |
A |
15: 96,315,001 (GRCm39) |
H1227L |
possibly damaging |
Het |
| Sec31b |
G |
T |
19: 44,507,076 (GRCm39) |
P840T |
probably damaging |
Het |
| Slc16a9 |
T |
A |
10: 70,118,958 (GRCm39) |
L426I |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 23,996,575 (GRCm39) |
S27P |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,672,299 (GRCm39) |
S310P |
possibly damaging |
Het |
| Tmem245 |
G |
A |
4: 56,947,084 (GRCm39) |
R110C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,735,152 (GRCm39) |
Y953C |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,684,775 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,644,320 (GRCm39) |
V4561I |
probably benign |
Het |
| Vmn1r192 |
C |
T |
13: 22,371,801 (GRCm39) |
V140I |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,531 (GRCm39) |
V405A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,509,678 (GRCm39) |
V172G |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,677,817 (GRCm39) |
R2956C |
possibly damaging |
Het |
| Zfp446 |
T |
C |
7: 12,716,178 (GRCm39) |
L283P |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,591 (GRCm39) |
K164E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCTCACCAGTTTGCTTG -3'
(R):5'- AGCTTCCAGGGGTTTCTCATTAATTTG -3'
Sequencing Primer
(F):5'- CCTTTGGAAGAGCAGTCACTG -3'
(R):5'- CTGTGGCAGCAGAAAGAT -3'
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| Posted On |
2016-08-04 |
Incidental Mutation