Incidental Mutation 'R5034:Asxl2'
| ID |
389459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
042625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R5034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3552193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1312
(S1312G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092003]
[ENSMUST00000111215]
[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: S1312G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: S1312G
| 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 |
noncoding transcript
Transcript: ENSMUST00000152196
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153102
AA Change: S1312G
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: S1312G
| 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 |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (67/69) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,090 (GRCm39) |
S482T |
probably benign |
Het |
| Adam6b |
G |
T |
12: 113,454,547 (GRCm39) |
G455C |
probably damaging |
Het |
| Ahsg |
C |
A |
16: 22,717,650 (GRCm39) |
P237Q |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,603,458 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,649 (GRCm39) |
H1677R |
probably damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,583 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 127,952,901 (GRCm39) |
A117T |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,683 (GRCm39) |
R3153G |
possibly damaging |
Het |
| Dctn4 |
A |
G |
18: 60,685,956 (GRCm39) |
N342D |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,499,004 (GRCm39) |
I953N |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,219 (GRCm39) |
S290P |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,228,084 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,074,939 (GRCm39) |
L391M |
probably benign |
Het |
| Foxd3 |
G |
A |
4: 99,545,327 (GRCm39) |
G156S |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,495 (GRCm39) |
E173D |
probably benign |
Het |
| Hcar1 |
T |
C |
5: 124,017,732 (GRCm39) |
|
probably benign |
Het |
| Hsd17b11 |
C |
T |
5: 104,166,087 (GRCm39) |
V91M |
possibly damaging |
Het |
| Ighv1-77 |
C |
T |
12: 115,825,494 (GRCm39) |
C115Y |
probably damaging |
Het |
| Ighv9-2 |
A |
G |
12: 114,073,025 (GRCm39) |
F9S |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,292,736 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,852,561 (GRCm39) |
R890W |
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Magel2 |
A |
T |
7: 62,029,616 (GRCm39) |
H840L |
unknown |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,317 (GRCm39) |
F95L |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,104,440 (GRCm39) |
L1436P |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,334,976 (GRCm39) |
P943S |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,952,502 (GRCm39) |
R4153* |
probably null |
Het |
| Oosp2 |
T |
C |
19: 11,628,899 (GRCm39) |
I67M |
probably damaging |
Het |
| Or5m13b |
C |
A |
2: 85,753,891 (GRCm39) |
S93Y |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,564,285 (GRCm39) |
D1023V |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,859 (GRCm39) |
S322P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,151,231 (GRCm39) |
D285G |
probably benign |
Het |
| Pde5a |
G |
C |
3: 122,646,235 (GRCm39) |
G809R |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,646,236 (GRCm39) |
G809V |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,350,010 (GRCm39) |
V120A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,797,576 (GRCm39) |
S311P |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,631,887 (GRCm39) |
D153G |
probably damaging |
Het |
| Rmdn3 |
G |
T |
2: 118,978,058 (GRCm39) |
A181E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,633 (GRCm39) |
V369M |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,810,022 (GRCm39) |
R601S |
probably benign |
Het |
| Sdcbp |
G |
A |
4: 6,393,118 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,425,265 (GRCm39) |
T53A |
probably damaging |
Het |
| Sfpq |
A |
G |
4: 126,917,462 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,127,134 (GRCm39) |
Y163H |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,812,048 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,457,757 (GRCm39) |
N3231Y |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,253,377 (GRCm39) |
V218A |
possibly damaging |
Het |
| Tgm3 |
T |
C |
2: 129,879,404 (GRCm39) |
V332A |
possibly damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,739,243 (GRCm39) |
|
probably benign |
Het |
| Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
| Trdv2-2 |
C |
A |
14: 54,198,882 (GRCm39) |
Y57* |
probably null |
Het |
| Trim50 |
T |
C |
5: 135,396,147 (GRCm39) |
V365A |
possibly damaging |
Het |
| Ubash3b |
T |
C |
9: 40,941,036 (GRCm39) |
Q245R |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,501,047 (GRCm39) |
V338E |
possibly damaging |
Het |
| Usf3 |
A |
C |
16: 44,036,762 (GRCm39) |
K414T |
probably damaging |
Het |
| Usp48 |
C |
T |
4: 137,334,068 (GRCm39) |
R161* |
probably null |
Het |
| Vps18 |
A |
T |
2: 119,123,787 (GRCm39) |
D238V |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,390,611 (GRCm39) |
V368A |
probably damaging |
Het |
| Zfp354c |
T |
C |
11: 50,705,866 (GRCm39) |
E403G |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,072 (GRCm39) |
V476A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACAGTGTGTAGCAGCCC -3'
(R):5'- TTACCGAACAACAAGGCAGG -3'
Sequencing Primer
(F):5'- TGCAAACCCCCAAATTGTATGG -3'
(R):5'- CAAGGCAGGAGACACAGAGTTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation