Incidental Mutation 'R2282:Ash2l'
| ID |
243183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ash2l
|
| Ensembl Gene |
ENSMUSG00000031575 |
| Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
| Synonyms |
|
| MMRRC Submission |
040281-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26306028-26337722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26325070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 163
(M163T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068892]
[ENSMUST00000110608]
[ENSMUST00000110609]
[ENSMUST00000110610]
[ENSMUST00000139946]
[ENSMUST00000151856]
[ENSMUST00000166078]
|
| AlphaFold |
Q91X20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068892
AA Change: M163T
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: M163T
| 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: M74T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: M74T
| 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 |
probably benign
Transcript: ENSMUST00000110609
AA Change: M74T
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: M74T
| 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 benign
Transcript: ENSMUST00000110610
AA Change: M74T
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: M74T
| 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: M163T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575
AA Change: M163T
| 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: M163T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575
AA Change: M163T
| 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 |
probably benign
Transcript: ENSMUST00000166078
AA Change: M74T
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: M74T
| 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 |
noncoding transcript
Transcript: ENSMUST00000211188
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,440,697 (GRCm39) |
L232P |
probably benign |
Het |
| Ap5b1 |
A |
T |
19: 5,619,665 (GRCm39) |
T362S |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,056,073 (GRCm39) |
Y1029C |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 54,963,597 (GRCm39) |
S829* |
probably null |
Het |
| Cd1d2 |
A |
G |
3: 86,894,558 (GRCm39) |
K109E |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,686,359 (GRCm39) |
F1309L |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,327,448 (GRCm39) |
E2055V |
probably damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,087 (GRCm39) |
I141F |
unknown |
Het |
| Epha5 |
A |
T |
5: 84,298,269 (GRCm39) |
I542N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,791 (GRCm39) |
V1432D |
possibly damaging |
Het |
| Klf12 |
C |
T |
14: 100,137,581 (GRCm39) |
E322K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Or1j11 |
G |
A |
2: 36,312,012 (GRCm39) |
V201I |
probably benign |
Het |
| Or2y1c |
T |
G |
11: 49,361,470 (GRCm39) |
M164R |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,776 (GRCm39) |
V185A |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,124 (GRCm39) |
M2V |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,571,452 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,373,934 (GRCm39) |
G2067D |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,252,705 (GRCm39) |
M164V |
probably benign |
Het |
| Snx5 |
T |
A |
2: 144,095,595 (GRCm39) |
E355D |
probably benign |
Het |
| Tmbim6 |
T |
C |
15: 99,302,407 (GRCm39) |
F93S |
probably damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,100,754 (GRCm39) |
Q77* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,629,882 (GRCm39) |
V14216A |
possibly damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,870,859 (GRCm39) |
C808Y |
possibly damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,102 (GRCm39) |
F205S |
probably damaging |
Het |
|
| Other mutations in Ash2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01835:Ash2l
|
APN |
8 |
26,329,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATAAAACTGAGAACGTACTTGC -3'
(R):5'- ACTCTATCATGGCTTCACAGTGTG -3'
Sequencing Primer
(F):5'- CGTACTTGCTAAAGAGGACTGC -3'
(R):5'- CAGTGTGCACATGACAGTTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation