Incidental Mutation 'IGL01835:Ash2l'
| ID |
154912 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ash2l
|
| Ensembl Gene |
ENSMUSG00000031575 |
| Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26306028-26337722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26329868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 97
(V97M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068892]
[ENSMUST00000110608]
[ENSMUST00000110609]
[ENSMUST00000110610]
[ENSMUST00000139946]
[ENSMUST00000151856]
[ENSMUST00000166078]
|
| AlphaFold |
Q91X20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068892
AA Change: V97M
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: V97M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
59 |
N/A |
INTRINSIC |
|
PDB:3S32|A
|
90 |
275 |
1e-136 |
PDB |
|
Blast:PHD
|
103 |
146 |
2e-6 |
BLAST |
|
low complexity region
|
280 |
306 |
N/A |
INTRINSIC |
|
SPRY
|
413 |
577 |
4.87e-41 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110608
AA Change: V8M
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: V8M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3S32|A
|
1 |
186 |
1e-137 |
PDB |
|
Blast:PHD
|
14 |
57 |
2e-6 |
BLAST |
|
low complexity region
|
191 |
217 |
N/A |
INTRINSIC |
|
SPRY
|
324 |
455 |
1.13e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110609
AA Change: V8M
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: V8M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3S32|A
|
1 |
186 |
1e-137 |
PDB |
|
Blast:PHD
|
14 |
57 |
2e-6 |
BLAST |
|
low complexity region
|
191 |
217 |
N/A |
INTRINSIC |
|
SPRY
|
324 |
488 |
4.87e-41 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110610
AA Change: V8M
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: V8M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3S32|A
|
1 |
186 |
1e-137 |
PDB |
|
Blast:PHD
|
14 |
57 |
2e-6 |
BLAST |
|
low complexity region
|
191 |
217 |
N/A |
INTRINSIC |
|
SPRY
|
324 |
488 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139946
AA Change: V97M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575
AA Change: V97M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
59 |
N/A |
INTRINSIC |
|
PDB:3S32|A
|
90 |
275 |
1e-141 |
PDB |
|
Blast:PHD
|
103 |
146 |
1e-6 |
BLAST |
|
transmembrane domain
|
278 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151856
AA Change: V97M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575
AA Change: V97M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
59 |
N/A |
INTRINSIC |
|
PDB:3S32|A
|
90 |
272 |
1e-125 |
PDB |
|
Blast:PHD
|
103 |
146 |
1e-6 |
BLAST |
|
transmembrane domain
|
286 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166078
AA Change: V8M
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: V8M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3S32|A
|
1 |
186 |
1e-137 |
PDB |
|
Blast:PHD
|
14 |
57 |
2e-6 |
BLAST |
|
low complexity region
|
191 |
217 |
N/A |
INTRINSIC |
|
SPRY
|
324 |
488 |
4.87e-41 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele die before E8.5-E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,213,957 (GRCm39) |
M728K |
probably benign |
Het |
| 2700049A03Rik |
T |
A |
12: 71,213,955 (GRCm39) |
Y727* |
probably null |
Het |
| Adam23 |
T |
C |
1: 63,582,278 (GRCm39) |
Y309H |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,149,588 (GRCm39) |
F83L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,112,784 (GRCm39) |
S1607T |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,260,435 (GRCm39) |
M969L |
possibly damaging |
Het |
| Dse |
T |
A |
10: 34,036,213 (GRCm39) |
|
probably benign |
Het |
| Dusp22 |
C |
T |
13: 30,892,666 (GRCm39) |
|
probably null |
Het |
| F5 |
G |
A |
1: 164,021,937 (GRCm39) |
V1471I |
probably benign |
Het |
| Gm14403 |
A |
T |
2: 177,199,049 (GRCm39) |
E48D |
probably damaging |
Het |
| Gm6309 |
G |
A |
5: 146,105,085 (GRCm39) |
A276V |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,941,086 (GRCm39) |
T113S |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,163,650 (GRCm39) |
V236A |
probably benign |
Het |
| Mrc2 |
T |
G |
11: 105,227,503 (GRCm39) |
F579V |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,468,279 (GRCm39) |
M1K |
probably null |
Het |
| Oas3 |
A |
T |
5: 120,904,193 (GRCm39) |
C560* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,165 (GRCm39) |
V125A |
probably damaging |
Het |
| Or52e18 |
T |
C |
7: 104,609,669 (GRCm39) |
N90S |
probably benign |
Het |
| Prlr |
G |
A |
15: 10,329,129 (GRCm39) |
V535I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,165,058 (GRCm39) |
T48A |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,131,461 (GRCm39) |
H485R |
possibly damaging |
Het |
| Rnf13 |
A |
T |
3: 57,728,007 (GRCm39) |
H229L |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,601,120 (GRCm39) |
D39G |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,357,035 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
A |
2: 129,457,484 (GRCm39) |
F186Y |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,268,040 (GRCm39) |
Y473H |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,053,559 (GRCm39) |
I360V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,918,705 (GRCm39) |
R975C |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,701,175 (GRCm39) |
I350N |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,366 (GRCm39) |
N166I |
probably benign |
Het |
| Trav14n-3 |
A |
G |
14: 53,607,786 (GRCm39) |
T39A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,015 (GRCm39) |
M812V |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,314,978 (GRCm39) |
F203V |
probably damaging |
Het |
| Vwde |
A |
C |
6: 13,186,823 (GRCm39) |
V888G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,749 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ash2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01913:Ash2l
|
APN |
8 |
26,309,652 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02379:Ash2l
|
APN |
8 |
26,312,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Ash2l
|
APN |
8 |
26,308,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0639:Ash2l
|
UTSW |
8 |
26,313,319 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1217:Ash2l
|
UTSW |
8 |
26,312,913 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1244:Ash2l
|
UTSW |
8 |
26,307,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1440:Ash2l
|
UTSW |
8 |
26,317,406 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2282:Ash2l
|
UTSW |
8 |
26,325,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3013:Ash2l
|
UTSW |
8 |
26,329,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3721:Ash2l
|
UTSW |
8 |
26,308,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Ash2l
|
UTSW |
8 |
26,307,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Ash2l
|
UTSW |
8 |
26,308,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5637:Ash2l
|
UTSW |
8 |
26,317,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Ash2l
|
UTSW |
8 |
26,307,642 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6473:Ash2l
|
UTSW |
8 |
26,325,008 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6678:Ash2l
|
UTSW |
8 |
26,323,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6710:Ash2l
|
UTSW |
8 |
26,309,740 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6954:Ash2l
|
UTSW |
8 |
26,312,796 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7166:Ash2l
|
UTSW |
8 |
26,317,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Ash2l
|
UTSW |
8 |
26,317,233 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Ash2l
|
UTSW |
8 |
26,312,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Ash2l
|
UTSW |
8 |
26,313,214 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7962:Ash2l
|
UTSW |
8 |
26,329,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8084:Ash2l
|
UTSW |
8 |
26,321,322 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8889:Ash2l
|
UTSW |
8 |
26,313,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation