Incidental Mutation 'R8792:Asxl2'
| ID |
671009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
068635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R8792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3546536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 440
(L440P)
|
| 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
AA Change: L440P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: L440P
| 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: L440P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: L440P
| 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: L440P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: L440P
| 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 |
|
| Meta Mutation Damage Score |
0.0641 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
T |
C |
15: 81,793,697 (GRCm39) |
I382T |
probably damaging |
Het |
| Adam39 |
G |
T |
8: 41,279,613 (GRCm39) |
R668L |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,455,310 (GRCm39) |
I709T |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,836,522 (GRCm39) |
E692G |
probably damaging |
Het |
| Atosb |
G |
A |
4: 43,033,546 (GRCm39) |
P536S |
probably damaging |
Het |
| Bmf |
A |
G |
2: 118,377,386 (GRCm39) |
F121L |
probably damaging |
Het |
| Cblif |
C |
A |
19: 11,727,599 (GRCm39) |
A141E |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,269 (GRCm39) |
F262L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,410,574 (GRCm39) |
D99V |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,642,189 (GRCm39) |
T102S |
|
Het |
| Eps15 |
T |
C |
4: 109,162,908 (GRCm39) |
V67A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,103 (GRCm39) |
L4H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,769 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
C |
T |
5: 138,269,251 (GRCm39) |
V70M |
probably damaging |
Het |
| Garin2 |
C |
T |
12: 78,761,924 (GRCm39) |
T196M |
probably damaging |
Het |
| Got1l1 |
C |
A |
8: 27,690,749 (GRCm39) |
|
probably null |
Het |
| Gpr146 |
A |
G |
5: 139,378,549 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,558,137 (GRCm39) |
V346M |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,372,768 (GRCm39) |
P3108Q |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,226 (GRCm39) |
S48G |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,835,104 (GRCm39) |
|
probably benign |
Het |
| Ift70a1 |
C |
A |
2: 75,811,898 (GRCm39) |
E62* |
probably null |
Het |
| Lama4 |
T |
G |
10: 38,924,048 (GRCm39) |
I485M |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,325,300 (GRCm39) |
T1375I |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,463,549 (GRCm39) |
Y544C |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,821,773 (GRCm39) |
Q692* |
probably null |
Het |
| Mark2 |
G |
T |
19: 7,258,580 (GRCm39) |
H570N |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,870,682 (GRCm39) |
|
probably benign |
Het |
| Mnx1 |
G |
A |
5: 29,683,372 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
A |
T |
2: 147,019,813 (GRCm39) |
V208E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,050,919 (GRCm39) |
I1058V |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,047 (GRCm39) |
I877T |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,508,669 (GRCm39) |
N509I |
possibly damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,471 (GRCm39) |
L12P |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,231 (GRCm39) |
Y49C |
probably benign |
Het |
| Or4f14b |
G |
C |
2: 111,775,073 (GRCm39) |
H243D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,332 (GRCm39) |
N73S |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,065,984 (GRCm39) |
F580L |
probably benign |
Het |
| Parvg |
C |
A |
15: 84,213,160 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,541 (GRCm39) |
V549A |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,534 (GRCm39) |
H374L |
probably benign |
Het |
| Pgap4 |
T |
C |
4: 49,587,067 (GRCm39) |
T34A |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,970,981 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,729,924 (GRCm39) |
F69L |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,347,456 (GRCm39) |
I1123V |
unknown |
Het |
| Rida |
C |
T |
15: 34,495,242 (GRCm39) |
V8M |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,952,478 (GRCm39) |
C139S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,095,091 (GRCm39) |
I1254M |
unknown |
Het |
| Rpl3l |
A |
G |
17: 24,947,447 (GRCm39) |
T2A |
possibly damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,022,942 (GRCm39) |
I147N |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,673,390 (GRCm39) |
T727I |
probably damaging |
Het |
| Slc25a16 |
C |
T |
10: 62,764,119 (GRCm39) |
R59* |
probably null |
Het |
| Strc |
T |
A |
2: 121,208,286 (GRCm39) |
I362F |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,538,499 (GRCm39) |
T382S |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,328,328 (GRCm39) |
D556V |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,401,099 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
A |
11: 67,767,244 (GRCm39) |
K709* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,840,230 (GRCm39) |
N1771K |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,669 (GRCm39) |
I81V |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,346,986 (GRCm39) |
T116A |
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 |
|
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'- CCATACTTCCTTCAGAGGCC -3'
(R):5'- TGGACTGGCTTCTGCAACAG -3'
Sequencing Primer
(F):5'- AGTAGTTCCTCAGTCCGAGTGTAAAG -3'
(R):5'- GCTTCTGCAACAGGCTTTATTATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation