Incidental Mutation 'R4155:Ash2l'
ID |
315088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ash2l
|
Ensembl Gene |
ENSMUSG00000031575 |
Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
Synonyms |
|
MMRRC Submission |
040999-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4155 (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 26307482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 485
(Y485H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033979]
[ENSMUST00000068892]
[ENSMUST00000110608]
[ENSMUST00000110609]
[ENSMUST00000110610]
[ENSMUST00000139946]
[ENSMUST00000151856]
[ENSMUST00000166078]
|
AlphaFold |
Q91X20 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033979
|
SMART Domains |
Protein: ENSMUSP00000033979 Gene: ENSMUSG00000031574
Domain | Start | End | E-Value | Type |
START
|
75 |
280 |
3.63e-72 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068892
AA Change: Y607H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070957 Gene: ENSMUSG00000031575 AA Change: Y607H
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: Y485H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106238 Gene: ENSMUSG00000031575 AA Change: Y485H
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: Y518H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106239 Gene: ENSMUSG00000031575 AA Change: Y518H
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: Y518H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106240 Gene: ENSMUSG00000031575 AA Change: Y518H
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: ENSMUST00000139946
|
SMART Domains |
Protein: ENSMUSP00000118346 Gene: ENSMUSG00000031575
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 benign
Transcript: ENSMUST00000151856
|
SMART Domains |
Protein: ENSMUSP00000117488 Gene: ENSMUSG00000031575
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: Y518H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132546 Gene: ENSMUSG00000031575 AA Change: Y518H
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
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 |
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'- CACTCAGAGTAAGTAGTTGTGTGG -3'
(R):5'- ATCTCACGTACCACCCTGTG -3'
Sequencing Primer
(F):5'- AGGCACTGCTGCAGTCC -3'
(R):5'- GTACCACCCTGTGAGTACTGTAAG -3'
|
Posted On |
2015-05-14 |