Incidental Mutation 'R8827:Asxl2'
| ID |
673558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
068658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R8827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3550501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 748
(I748L)
|
| 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 |
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 benign
Transcript: ENSMUST00000111215
AA Change: I748L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: I748L
| 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 |
probably benign
Transcript: ENSMUST00000153102
AA Change: I748L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: I748L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,839,324 (GRCm39) |
I810V |
probably benign |
Het |
| Adcy7 |
T |
C |
8: 89,036,327 (GRCm39) |
F128S |
possibly damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,757,633 (GRCm39) |
Q188* |
probably null |
Het |
| Atp8b2 |
T |
C |
3: 89,853,307 (GRCm39) |
N70S |
|
Het |
| Bmp1 |
A |
G |
14: 70,728,082 (GRCm39) |
Y616H |
probably damaging |
Het |
| Brap |
T |
A |
5: 121,810,261 (GRCm39) |
D248E |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,645,765 (GRCm39) |
S294L |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,794,123 (GRCm39) |
Y338C |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,774,110 (GRCm39) |
S1993T |
unknown |
Het |
| Chl1 |
G |
T |
6: 103,670,111 (GRCm39) |
M500I |
probably benign |
Het |
| Cntn3 |
G |
C |
6: 102,246,094 (GRCm39) |
L352V |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,890,535 (GRCm39) |
D635G |
probably benign |
Het |
| Col22a1 |
C |
A |
15: 71,774,665 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
T |
5: 145,387,008 (GRCm39) |
D327E |
probably benign |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,226 (GRCm39) |
S130C |
unknown |
Het |
| Dhodh |
T |
C |
8: 110,334,928 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
C |
T |
17: 84,955,079 (GRCm39) |
S246L |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,157,894 (GRCm39) |
F316Y |
probably damaging |
Het |
| Esp34 |
A |
T |
17: 38,865,091 (GRCm39) |
|
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,851,824 (GRCm39) |
M86V |
possibly damaging |
Het |
| Gm29394 |
G |
T |
15: 57,932,717 (GRCm39) |
Q7K |
probably damaging |
Het |
| Gtf2i |
C |
T |
5: 134,269,096 (GRCm39) |
|
probably null |
Het |
| H2bc27 |
C |
T |
11: 58,839,917 (GRCm39) |
P51L |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,720 (GRCm39) |
Y888H |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,417,548 (GRCm39) |
W894R |
probably damaging |
Het |
| Klhl25 |
C |
A |
7: 75,516,391 (GRCm39) |
D432E |
possibly damaging |
Het |
| Klhl7 |
G |
A |
5: 24,363,635 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
T |
1: 153,097,424 (GRCm39) |
L1540Q |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Map4k5 |
C |
T |
12: 69,903,635 (GRCm39) |
D57N |
possibly damaging |
Het |
| Mpped2 |
T |
C |
2: 106,691,928 (GRCm39) |
M211T |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,075,339 (GRCm39) |
T101A |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,184,742 (GRCm39) |
F447L |
probably benign |
Het |
| Nup50l |
G |
T |
6: 96,142,293 (GRCm39) |
N250K |
probably benign |
Het |
| Or4p22 |
T |
C |
2: 88,317,165 (GRCm39) |
S30P |
probably damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,061 (GRCm39) |
T98I |
unknown |
Het |
| Or5w16 |
C |
T |
2: 87,576,777 (GRCm39) |
P79L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,605,569 (GRCm39) |
F104Y |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,102,802 (GRCm39) |
V665E |
probably damaging |
Het |
| Pdpk1 |
T |
C |
17: 24,307,191 (GRCm39) |
D380G |
probably benign |
Het |
| Phkg1 |
T |
A |
5: 129,893,894 (GRCm39) |
E280D |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,699,732 (GRCm39) |
Y2068F |
possibly damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,191,462 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
G |
A |
11: 101,058,380 (GRCm39) |
P222L |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,476 (GRCm39) |
V10E |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,701,267 (GRCm39) |
Q513H |
probably damaging |
Het |
| Pros1 |
T |
C |
16: 62,746,827 (GRCm39) |
V593A |
probably benign |
Het |
| Radil |
T |
C |
5: 142,493,859 (GRCm39) |
H250R |
probably damaging |
Het |
| Rasa2 |
C |
T |
9: 96,434,403 (GRCm39) |
R628Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,572,934 (GRCm39) |
E4884G |
possibly damaging |
Het |
| Shh |
A |
G |
5: 28,663,125 (GRCm39) |
S348P |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,270,237 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
A |
C |
2: 158,453,274 (GRCm39) |
D38A |
probably damaging |
Het |
| Slc35f3 |
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,780 (GRCm39) |
|
probably benign |
Het |
| Slc45a4 |
A |
T |
15: 73,458,316 (GRCm39) |
I411N |
probably benign |
Het |
| Slc49a4 |
A |
T |
16: 35,554,320 (GRCm39) |
C274S |
probably benign |
Het |
| Slc7a10 |
C |
A |
7: 34,897,313 (GRCm39) |
S248Y |
probably damaging |
Het |
| Smc3 |
T |
A |
19: 53,611,085 (GRCm39) |
D258E |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,129,617 (GRCm39) |
Q1131L |
probably benign |
Het |
| Sphk1 |
A |
G |
11: 116,426,590 (GRCm39) |
D182G |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,716,302 (GRCm39) |
Y633H |
probably damaging |
Het |
| Sspo |
T |
G |
6: 48,434,606 (GRCm39) |
F1033V |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,357 (GRCm39) |
V488A |
probably benign |
Het |
| Tead1 |
A |
C |
7: 112,475,449 (GRCm39) |
K299N |
probably damaging |
Het |
| Tmem150c |
A |
C |
5: 100,240,654 (GRCm39) |
S69R |
probably damaging |
Het |
| Tnfaip3 |
T |
A |
10: 18,880,795 (GRCm39) |
K424M |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,188 (GRCm39) |
V335A |
possibly damaging |
Het |
| Ttc39c |
G |
A |
18: 12,828,436 (GRCm39) |
V199I |
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,070,736 (GRCm39) |
F400Y |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,868 (GRCm39) |
S844T |
probably benign |
Het |
| Wwtr1 |
A |
G |
3: 57,482,616 (GRCm39) |
V77A |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,986,987 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,163,123 (GRCm39) |
P500T |
unknown |
Het |
| Zfand2a |
C |
T |
5: 139,460,607 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
A |
G |
10: 81,078,619 (GRCm39) |
T284A |
probably benign |
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 |
|
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 |
|
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'- GGAGGTACGAGAGAACTTTTACC -3'
(R):5'- GCAGTTGTCTTTGCTAAGGC -3'
Sequencing Primer
(F):5'- ACGAGAGAACTTTTACCCTGTGGTC -3'
(R):5'- AGAACCTGCTTTGGGCTCAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation