Incidental Mutation 'R6678:Ash2l'
ID |
527349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ash2l
|
Ensembl Gene |
ENSMUSG00000031575 |
Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
Synonyms |
|
MMRRC Submission |
044797-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6678 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26306028-26337722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 26323805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 125
(W125G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132546
(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: W214G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070957 Gene: ENSMUSG00000031575 AA Change: W214G
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 damaging
Transcript: ENSMUST00000110608
AA Change: W125G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106238 Gene: ENSMUSG00000031575 AA Change: W125G
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: W125G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106239 Gene: ENSMUSG00000031575 AA Change: W125G
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: W125G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106240 Gene: ENSMUSG00000031575 AA Change: W125G
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: W214G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118346 Gene: ENSMUSG00000031575 AA Change: W214G
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 |
noncoding transcript
Transcript: ENSMUST00000142358
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151856
AA Change: W214G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117488 Gene: ENSMUSG00000031575 AA Change: W214G
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: W125G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132546 Gene: ENSMUSG00000031575 AA Change: W125G
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: ENSMUST00000156759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211188
|
Meta Mutation Damage Score |
0.9484 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
97% (37/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
probably benign |
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 |
R6473:Ash2l
|
UTSW |
8 |
26,325,008 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TCAGCACATAAAAGCAGTCTTAGAG -3'
(R):5'- TACCTAAAAGCTACAGGCAGAG -3'
Sequencing Primer
(F):5'- AGAGAATTATATTCACACAAGGCAG -3'
(R):5'- AGCTACAGGCAGAGTTTTATTTTG -3'
|
Posted On |
2018-07-23 |