Incidental Mutation 'R4662:Asxl2'
| ID |
352951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
042011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R4662 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3477193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 13
(W13L)
|
| 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: W13L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: W13L
| 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 |
noncoding transcript
Transcript: ENSMUST00000095903
|
| SMART Domains |
Protein: ENSMUSP00000093591
Gene: ENSMUSG00000071456
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111215
AA Change: W13L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: W13L
| 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: ENSMUST00000140046
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144247
AA Change: W13L
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: W13L
| 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: W13L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: W13L
| 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: ENSMUST00000168012
|
| SMART Domains |
Protein: ENSMUSP00000130978
Gene: ENSMUSG00000071456
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179637
|
| SMART Domains |
Protein: ENSMUSP00000136462
Gene: ENSMUSG00000071456
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180149
|
| SMART Domains |
Protein: ENSMUSP00000137142
Gene: ENSMUSG00000071456
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
68 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,891,939 (GRCm39) |
Q67L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,080,116 (GRCm39) |
Y36F |
probably benign |
Het |
| Adrb1 |
A |
G |
19: 56,711,206 (GRCm39) |
T135A |
probably damaging |
Het |
| Ark2n |
T |
A |
18: 77,762,186 (GRCm39) |
Q42L |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
| Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,074,411 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,510 (GRCm39) |
S396P |
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
| Chek2 |
T |
A |
5: 111,014,908 (GRCm39) |
V459D |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,203,672 (GRCm39) |
V1003A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,416 (GRCm39) |
F257L |
possibly damaging |
Het |
| Dnajc13 |
A |
C |
9: 104,084,957 (GRCm39) |
F819V |
probably damaging |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Dynlt1b |
A |
G |
17: 6,699,279 (GRCm39) |
T10A |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,727,390 (GRCm39) |
V1244E |
probably damaging |
Het |
| Ethe1 |
G |
A |
7: 24,293,405 (GRCm39) |
S17N |
probably benign |
Het |
| Foxi1 |
T |
C |
11: 34,157,578 (GRCm39) |
D149G |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,475 (GRCm39) |
E470G |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,753,072 (GRCm39) |
F56L |
probably damaging |
Het |
| Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
| Hyal1 |
G |
A |
9: 107,456,420 (GRCm39) |
R369H |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,733 (GRCm39) |
I438N |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,388,054 (GRCm39) |
C3331* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,883,162 (GRCm39) |
C439Y |
probably damaging |
Het |
| N4bp2l2 |
T |
C |
5: 150,574,160 (GRCm39) |
D85G |
probably damaging |
Het |
| Nr1h2 |
A |
G |
7: 44,199,855 (GRCm39) |
Y355H |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,868,167 (GRCm39) |
I322V |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,750 (GRCm39) |
L273V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,890,422 (GRCm39) |
L7370P |
unknown |
Het |
| Or1a1 |
T |
C |
11: 74,086,542 (GRCm39) |
I71T |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,980,222 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5k15 |
A |
G |
16: 58,710,287 (GRCm39) |
C99R |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,551,916 (GRCm39) |
D2041N |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,081,675 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ptprs |
G |
T |
17: 56,724,666 (GRCm39) |
T1118K |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,657,036 (GRCm39) |
T329I |
probably benign |
Het |
| Rhoh |
T |
A |
5: 66,050,157 (GRCm39) |
D142E |
probably benign |
Het |
| Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,181,332 (GRCm39) |
I64V |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,320,582 (GRCm39) |
W1333R |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,289 (GRCm39) |
T651S |
possibly damaging |
Het |
| Skint3 |
C |
A |
4: 112,134,863 (GRCm39) |
Y345* |
probably null |
Het |
| Slc1a7 |
T |
A |
4: 107,864,751 (GRCm39) |
N263K |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,789,267 (GRCm39) |
R1236C |
probably damaging |
Het |
| Tbx21 |
T |
C |
11: 96,992,393 (GRCm39) |
N226S |
probably benign |
Het |
| Thada |
A |
G |
17: 84,743,078 (GRCm39) |
L782P |
probably damaging |
Het |
| Tle1 |
T |
G |
4: 72,055,335 (GRCm39) |
I446L |
possibly damaging |
Het |
| Trgv1 |
T |
A |
13: 19,524,503 (GRCm39) |
L76I |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,877,469 (GRCm39) |
D1621G |
probably damaging |
Het |
| Trpm2 |
G |
C |
10: 77,773,972 (GRCm39) |
A481G |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,685,595 (GRCm39) |
M2240L |
probably benign |
Het |
| Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
| Vangl1 |
T |
C |
3: 102,074,238 (GRCm39) |
T290A |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,393 (GRCm39) |
I186F |
probably benign |
Het |
| Vmn2r102 |
G |
A |
17: 19,901,424 (GRCm39) |
C517Y |
probably damaging |
Het |
| Vrk2 |
G |
A |
11: 26,421,611 (GRCm39) |
T449M |
possibly damaging |
Het |
| Zfp518a |
A |
G |
19: 40,900,304 (GRCm39) |
S78G |
probably benign |
Het |
| Zscan25 |
T |
C |
5: 145,223,120 (GRCm39) |
S131P |
unknown |
Het |
| Zscan29 |
G |
A |
2: 120,997,096 (GRCm39) |
T140I |
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 |
|
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 |
|
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'- GCTGCTTGTACAGTAAGAACCC -3'
(R):5'- TTACTGGGCAAGCACAACAC -3'
Sequencing Primer
(F):5'- CTTGTACAGTAAGAACCCAATATGGC -3'
(R):5'- TAGCCACCGCGAGAAGTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation