Incidental Mutation 'R6154:Asxl2'
| ID |
489469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asxl2
|
| Ensembl Gene |
ENSMUSG00000037486 |
| Gene Name |
ASXL transcriptional regulator 2 |
| Synonyms |
4930556B16Rik |
| MMRRC Submission |
044301-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R6154 (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 3546593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 459
(V459A)
|
| 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: V459A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: V459A
| 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 |
possibly damaging
Transcript: ENSMUST00000111215
AA Change: V459A
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: V459A
| 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 |
noncoding transcript
Transcript: ENSMUST00000152196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153102
AA Change: V459A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: V459A
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (70/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
G |
10: 106,959,210 (GRCm39) |
I79L |
probably benign |
Het |
| Adam6a |
C |
T |
12: 113,509,292 (GRCm39) |
T555I |
probably benign |
Het |
| Adap1 |
A |
G |
5: 139,293,531 (GRCm39) |
V60A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,387,051 (GRCm39) |
E101G |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Camta2 |
G |
A |
11: 70,569,211 (GRCm39) |
A578V |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,818,609 (GRCm39) |
N316D |
possibly damaging |
Het |
| Chrm3 |
T |
A |
13: 9,928,476 (GRCm39) |
M187L |
possibly damaging |
Het |
| Clcn4 |
T |
C |
7: 7,294,481 (GRCm39) |
T367A |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,376,928 (GRCm39) |
S654P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,387 (GRCm39) |
T2510S |
unknown |
Het |
| Crisp4 |
T |
C |
1: 18,193,012 (GRCm39) |
E192G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,711,370 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
G |
15: 28,204,177 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,746,164 (GRCm39) |
D3983A |
probably benign |
Het |
| Dock5 |
C |
A |
14: 68,097,361 (GRCm39) |
V71L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,427 (GRCm39) |
V610A |
probably damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,428 (GRCm39) |
Y86C |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,903,799 (GRCm39) |
I267V |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,169,178 (GRCm39) |
Y575C |
probably damaging |
Het |
| Gm8094 |
T |
A |
14: 42,934,020 (GRCm39) |
D24V |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,087 (GRCm39) |
I244T |
possibly damaging |
Het |
| Haus6 |
A |
G |
4: 86,501,993 (GRCm39) |
L626P |
possibly damaging |
Het |
| Hexd |
A |
T |
11: 121,112,097 (GRCm39) |
H439L |
probably benign |
Het |
| Ifna12 |
A |
T |
4: 88,521,531 (GRCm39) |
C5* |
probably null |
Het |
| Igf2bp2 |
G |
T |
16: 21,894,843 (GRCm39) |
S300* |
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,362 (GRCm39) |
R71G |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,969 (GRCm39) |
V2333A |
probably benign |
Het |
| Lrrn4cl |
T |
C |
19: 8,829,252 (GRCm39) |
S77P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,500,927 (GRCm39) |
V831A |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,207,674 (GRCm39) |
I40N |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,940,700 (GRCm39) |
Y67N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,534,104 (GRCm39) |
I349F |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,200,368 (GRCm39) |
*81K |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,090,718 (GRCm39) |
Y280H |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,476,788 (GRCm39) |
D722G |
probably benign |
Het |
| Or10ag55-ps1 |
T |
G |
2: 87,139,902 (GRCm39) |
S256R |
probably benign |
Het |
| Or2m12 |
A |
T |
16: 19,105,181 (GRCm39) |
I104K |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,734 (GRCm39) |
M1T |
probably null |
Het |
| Or5i1 |
A |
G |
2: 87,613,100 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or6c7 |
C |
T |
10: 129,323,545 (GRCm39) |
T222I |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,966 (GRCm39) |
I296V |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,489,552 (GRCm39) |
L1681M |
probably damaging |
Het |
| Pdlim5 |
T |
C |
3: 141,983,674 (GRCm39) |
R360G |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,488,051 (GRCm39) |
Q81* |
probably null |
Het |
| Pitpnb |
C |
T |
5: 111,486,263 (GRCm39) |
Q56* |
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,603 (GRCm39) |
S215P |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,471,989 (GRCm39) |
Y728H |
probably damaging |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,516,542 (GRCm39) |
H1277R |
possibly damaging |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Sirt6 |
C |
T |
10: 81,462,339 (GRCm39) |
G20D |
probably damaging |
Het |
| Sit1 |
C |
A |
4: 43,482,981 (GRCm39) |
R89S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,546,094 (GRCm39) |
R80G |
probably damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,747 (GRCm39) |
M78K |
probably benign |
Het |
| Stk10 |
T |
A |
11: 32,553,654 (GRCm39) |
|
probably null |
Het |
| Tada2b |
A |
G |
5: 36,634,008 (GRCm39) |
V190A |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,747,780 (GRCm39) |
V41I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,567 (GRCm39) |
V1146E |
probably benign |
Het |
| Trappc9 |
T |
C |
15: 72,929,930 (GRCm39) |
D142G |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,965,178 (GRCm39) |
Y1558H |
probably damaging |
Het |
| Unc5c |
C |
A |
3: 141,383,914 (GRCm39) |
S97R |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,583 (GRCm39) |
I156T |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,821,921 (GRCm39) |
M588K |
possibly damaging |
Het |
| Vps26a |
T |
G |
10: 62,304,119 (GRCm39) |
E117D |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,627 (GRCm39) |
|
probably benign |
Het |
| Zfp534 |
C |
A |
4: 147,759,145 (GRCm39) |
R508I |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,526,642 (GRCm39) |
C187Y |
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 |
|
|
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 |
|
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'- GCAGTGCAGATACCATCACC -3'
(R):5'- GGTGGCCTCTTCATCAGTAAG -3'
Sequencing Primer
(F):5'- GTGCAGATACCATCACCATCCC -3'
(R):5'- TGGCCTCTTCATCAGTAAGAGAAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation