Incidental Mutation 'R4726:Asxl2'
ID |
358479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asxl2
|
Ensembl Gene |
ENSMUSG00000037486 |
Gene Name |
ASXL transcriptional regulator 2 |
Synonyms |
4930556B16Rik |
MMRRC Submission |
041989-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R4726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
3476857-3556852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3551872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 1205
(H1205Y)
|
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 |
possibly damaging
Transcript: ENSMUST00000111215
AA Change: H1205Y
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106846 Gene: ENSMUSG00000037486 AA Change: H1205Y
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 |
probably benign
Transcript: ENSMUST00000153102
AA Change: H1205Y
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117384 Gene: ENSMUSG00000037486 AA Change: H1205Y
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (74/75) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
C |
17: 65,141,448 (GRCm39) |
S52G |
probably null |
Het |
Abcc2 |
T |
C |
19: 43,820,553 (GRCm39) |
S1351P |
probably benign |
Het |
Acp2 |
T |
A |
2: 91,034,622 (GRCm39) |
L87Q |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,794,425 (GRCm39) |
T550K |
possibly damaging |
Het |
Amotl2 |
A |
G |
9: 102,601,018 (GRCm39) |
R329G |
probably benign |
Het |
Angel1 |
T |
C |
12: 86,768,649 (GRCm39) |
N278S |
probably damaging |
Het |
Ankrd12 |
A |
C |
17: 66,277,319 (GRCm39) |
M1985R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,040,267 (GRCm39) |
F535I |
probably damaging |
Het |
Art3 |
A |
G |
5: 92,559,002 (GRCm39) |
K313R |
probably benign |
Het |
Bsph1 |
A |
T |
7: 13,206,920 (GRCm39) |
M99L |
probably benign |
Het |
Ccdc153 |
T |
C |
9: 44,154,963 (GRCm39) |
|
probably null |
Het |
Cdh16 |
A |
T |
8: 105,342,664 (GRCm39) |
M28K |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,352 (GRCm39) |
F353L |
probably damaging |
Het |
Chrna2 |
G |
T |
14: 66,386,345 (GRCm39) |
V164L |
possibly damaging |
Het |
Cip2a |
A |
G |
16: 48,834,433 (GRCm39) |
T672A |
probably benign |
Het |
Ckmt1 |
T |
C |
2: 121,191,712 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
T |
3: 130,313,430 (GRCm39) |
E280V |
possibly damaging |
Het |
Dnajc12 |
A |
G |
10: 63,233,087 (GRCm39) |
D76G |
probably damaging |
Het |
Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,844,191 (GRCm39) |
V525A |
probably damaging |
Het |
Ehbp1l1 |
C |
A |
19: 5,769,204 (GRCm39) |
A700S |
possibly damaging |
Het |
Gab1 |
T |
C |
8: 81,515,682 (GRCm39) |
D212G |
possibly damaging |
Het |
Gm26996 |
A |
G |
6: 130,557,134 (GRCm39) |
|
noncoding transcript |
Het |
Gm28113 |
A |
G |
15: 75,198,577 (GRCm39) |
|
noncoding transcript |
Het |
Has3 |
T |
C |
8: 107,604,718 (GRCm39) |
F308S |
probably damaging |
Het |
Ifit3b |
T |
A |
19: 34,588,860 (GRCm39) |
I12N |
probably benign |
Het |
Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
Ints3 |
A |
G |
3: 90,301,084 (GRCm39) |
S840P |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,792 (GRCm39) |
V132A |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,493,101 (GRCm39) |
I1216N |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,639 (GRCm39) |
Y51C |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,839,820 (GRCm39) |
V60I |
probably damaging |
Het |
Klra14-ps |
C |
A |
6: 130,134,626 (GRCm39) |
|
noncoding transcript |
Het |
Krt6b |
A |
G |
15: 101,586,520 (GRCm39) |
I323T |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,240,957 (GRCm39) |
Q17P |
probably benign |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,451,851 (GRCm39) |
N1479S |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,256 (GRCm39) |
I194F |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,420,864 (GRCm39) |
I834T |
probably benign |
Het |
Mterf4 |
G |
A |
1: 93,229,471 (GRCm39) |
T251M |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,457,634 (GRCm39) |
D170E |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,534,586 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,530,462 (GRCm39) |
V305I |
probably benign |
Het |
Nlrp1b |
G |
T |
11: 71,072,232 (GRCm39) |
T537K |
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Or5b3 |
T |
A |
19: 13,388,469 (GRCm39) |
C179S |
probably damaging |
Het |
Or6c206 |
A |
G |
10: 129,097,045 (GRCm39) |
T72A |
possibly damaging |
Het |
Or8k28 |
A |
G |
2: 86,286,580 (GRCm39) |
F12L |
possibly damaging |
Het |
Pias1 |
A |
G |
9: 62,827,771 (GRCm39) |
V212A |
probably damaging |
Het |
Plscr1 |
T |
A |
9: 92,145,221 (GRCm39) |
V77D |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,299,798 (GRCm39) |
N1657S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,069,414 (GRCm39) |
V1551A |
possibly damaging |
Het |
Ptprn2 |
C |
A |
12: 117,211,393 (GRCm39) |
Y857* |
probably null |
Het |
Puf60 |
A |
T |
15: 75,944,183 (GRCm39) |
|
probably null |
Het |
Rnf20 |
C |
T |
4: 49,654,579 (GRCm39) |
R879* |
probably null |
Het |
Robo1 |
G |
A |
16: 72,768,931 (GRCm39) |
A499T |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,551,048 (GRCm39) |
|
probably null |
Het |
Smarcad1 |
A |
T |
6: 65,052,025 (GRCm39) |
H6L |
probably damaging |
Het |
Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,093,647 (GRCm39) |
D488V |
probably damaging |
Het |
Stx19 |
A |
G |
16: 62,642,495 (GRCm39) |
N104D |
probably benign |
Het |
Tcstv1b |
A |
T |
13: 120,635,173 (GRCm39) |
S152C |
possibly damaging |
Het |
Tmem222 |
T |
C |
4: 133,004,975 (GRCm39) |
M21V |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,971,538 (GRCm39) |
N205I |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,209,890 (GRCm39) |
H5017N |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,536,960 (GRCm39) |
T548A |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,267,154 (GRCm39) |
|
probably null |
Het |
Wasl |
A |
G |
6: 24,633,110 (GRCm39) |
V176A |
probably benign |
Het |
Wbp2nl |
T |
A |
15: 82,190,255 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,205,260 (GRCm39) |
|
probably null |
Het |
Zmiz1 |
T |
C |
14: 25,644,098 (GRCm39) |
|
probably null |
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 |
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'- CCTATTTCAGTGAAGGAGGAGCC -3'
(R):5'- ATGCCTCTATAGCTTGGCCC -3'
Sequencing Primer
(F):5'- AGAGTTCTGGCAGGCATCC -3'
(R):5'- CTATAGCTTGGCCCTATCTGTGTG -3'
|
Posted On |
2015-11-11 |