Incidental Mutation 'R6473:Ash2l'
| ID |
520346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ash2l
|
| Ensembl Gene |
ENSMUSG00000031575 |
| Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
| Synonyms |
|
| MMRRC Submission |
044606-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26306028-26337722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26325008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 184
(T184S)
|
| 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: T184S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: T184S
| 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 |
probably benign
Transcript: ENSMUST00000110608
AA Change: T95S
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: T95S
| 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 damaging
Transcript: ENSMUST00000110609
AA Change: T95S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: T95S
| 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: ENSMUST00000110610
AA Change: T95S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: T95S
| 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: ENSMUST00000139946
AA Change: T184S
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575
AA Change: T184S
| 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: T184S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575
AA Change: T184S
| 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 damaging
Transcript: ENSMUST00000166078
AA Change: T95S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: T95S
| 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: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
95% (36/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
| Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,968 (GRCm39) |
N248S |
probably benign |
Het |
| Cyp46a1 |
G |
T |
12: 108,321,734 (GRCm39) |
R320L |
possibly damaging |
Het |
| Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
| Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
| Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
| Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
| Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,406 (GRCm39) |
L147M |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,955 (GRCm39) |
R760G |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
| Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,583 (GRCm39) |
I287K |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,188 (GRCm39) |
C129R |
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 |
|
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 |
|
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'- AGGACTGATAATACTAAGAGCTAAGCC -3'
(R):5'- GCTTCACAGTGTGCACATG -3'
Sequencing Primer
(F):5'- GAGCTAAGCCAAATGACATCTAC -3'
(R):5'- CAGTGTGCACATGACAGTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation