Incidental Mutation 'R5611:Asxl2'
ID |
438040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asxl2
|
Ensembl Gene |
ENSMUSG00000037486 |
Gene Name |
ASXL transcriptional regulator 2 |
Synonyms |
4930556B16Rik |
MMRRC Submission |
043273-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.929)
|
Stock # |
R5611 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3534598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 265
(V265A)
|
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 damaging
Transcript: ENSMUST00000092003
AA Change: V265A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089629 Gene: ENSMUSG00000037486 AA Change: V265A
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: V265A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106846 Gene: ENSMUSG00000037486 AA Change: V265A
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 damaging
Transcript: ENSMUST00000144247
AA Change: V313A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116048 Gene: ENSMUSG00000037486 AA Change: V313A
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 damaging
Transcript: ENSMUST00000153102
AA Change: V265A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117384 Gene: ENSMUSG00000037486 AA Change: V265A
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
G |
C |
11: 48,910,828 (GRCm39) |
T535R |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,104,749 (GRCm39) |
F299I |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,171,161 (GRCm39) |
M1854T |
possibly damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,758 (GRCm39) |
P315S |
probably damaging |
Het |
Apbb1 |
A |
G |
7: 105,208,690 (GRCm39) |
V581A |
probably damaging |
Het |
Apol6 |
T |
A |
15: 76,935,240 (GRCm39) |
|
probably null |
Het |
Arhgef37 |
T |
C |
18: 61,640,334 (GRCm39) |
T242A |
probably benign |
Het |
Bicd1 |
A |
T |
6: 149,414,954 (GRCm39) |
R556* |
probably null |
Het |
C2 |
A |
G |
17: 35,091,360 (GRCm39) |
I101T |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,577,575 (GRCm39) |
|
probably benign |
Het |
Cd33 |
T |
C |
7: 43,181,542 (GRCm39) |
H206R |
probably damaging |
Het |
Cd5l |
G |
A |
3: 87,275,082 (GRCm39) |
G207D |
possibly damaging |
Het |
Chrd |
A |
T |
16: 20,557,724 (GRCm39) |
D774V |
probably damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
A |
T |
5: 87,825,503 (GRCm39) |
|
probably null |
Het |
Dpyd |
G |
A |
3: 118,987,942 (GRCm39) |
V704I |
probably benign |
Het |
Dscc1 |
C |
A |
15: 54,945,569 (GRCm39) |
Q312H |
probably benign |
Het |
Dysf |
A |
T |
6: 84,041,860 (GRCm39) |
T154S |
probably damaging |
Het |
Foxi2 |
T |
C |
7: 135,013,433 (GRCm39) |
V221A |
probably benign |
Het |
Gabbr2 |
A |
T |
4: 46,804,105 (GRCm39) |
I250N |
probably damaging |
Het |
Gfap |
T |
A |
11: 102,787,895 (GRCm39) |
T17S |
probably benign |
Het |
Hcrtr2 |
A |
G |
9: 76,230,596 (GRCm39) |
V64A |
probably damaging |
Het |
Igkv4-86 |
A |
G |
6: 68,887,659 (GRCm39) |
S27P |
probably damaging |
Het |
Kalrn |
G |
T |
16: 33,996,150 (GRCm39) |
F903L |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,745,304 (GRCm39) |
|
probably null |
Het |
Mlh3 |
T |
C |
12: 85,314,219 (GRCm39) |
T656A |
probably benign |
Het |
Mss51 |
G |
T |
14: 20,533,174 (GRCm39) |
S432R |
possibly damaging |
Het |
Mzf1 |
A |
G |
7: 12,778,554 (GRCm39) |
|
probably benign |
Het |
Nop58 |
T |
A |
1: 59,749,672 (GRCm39) |
|
probably benign |
Het |
Or10al5 |
A |
T |
17: 38,062,975 (GRCm39) |
I77F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,622,630 (GRCm39) |
E1652G |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,295,247 (GRCm39) |
N1459K |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,969,673 (GRCm39) |
G61D |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,203,065 (GRCm39) |
S581P |
probably benign |
Het |
Ppm1g |
A |
G |
5: 31,363,441 (GRCm39) |
F256L |
probably damaging |
Het |
Proser1 |
A |
G |
3: 53,386,296 (GRCm39) |
N726S |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,448 (GRCm39) |
D480G |
probably damaging |
Het |
Reln |
G |
A |
5: 22,244,663 (GRCm39) |
Q772* |
probably null |
Het |
Sh3gl2 |
T |
C |
4: 85,273,568 (GRCm39) |
V40A |
probably benign |
Het |
Slc22a23 |
G |
A |
13: 34,489,222 (GRCm39) |
T221I |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,040,698 (GRCm39) |
T518S |
probably damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,711,173 (GRCm39) |
|
probably benign |
Het |
St8sia4 |
T |
C |
1: 95,555,409 (GRCm39) |
D207G |
probably damaging |
Het |
Syde1 |
T |
A |
10: 78,421,725 (GRCm39) |
T609S |
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
Tle4 |
T |
C |
19: 14,427,159 (GRCm39) |
D754G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,562,869 (GRCm39) |
W26949* |
probably null |
Het |
Vmn1r222 |
A |
C |
13: 23,416,743 (GRCm39) |
S157A |
probably damaging |
Het |
Vmn1r51 |
T |
A |
6: 90,106,692 (GRCm39) |
L203M |
probably benign |
Het |
Vmn1r6 |
T |
C |
6: 56,979,362 (GRCm39) |
L8P |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,013,904 (GRCm39) |
D232G |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,030 (GRCm39) |
D300E |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,654,951 (GRCm39) |
K453* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
Vps54 |
A |
G |
11: 21,261,130 (GRCm39) |
N599S |
possibly damaging |
Het |
Zc3h13 |
A |
T |
14: 75,568,348 (GRCm39) |
N1214Y |
probably benign |
Het |
Zc3h18 |
T |
G |
8: 123,135,109 (GRCm39) |
|
probably null |
Het |
Zfp51 |
A |
G |
17: 21,684,354 (GRCm39) |
E323G |
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 |
R5377:Asxl2
|
UTSW |
12 |
3,524,618 (GRCm39) |
splice site |
probably null |
|
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'- CTTTGCCTTGGACATTTCTAAGATC -3'
(R):5'- AACCATTCCCTGATCATTGGTTG -3'
Sequencing Primer
(F):5'- CTACACGGCAAACTATGATTAGATAG -3'
(R):5'- AATACTCTCTGTAGACCAGGCTGG -3'
|
Posted On |
2016-10-26 |