Incidental Mutation 'R7166:Ash2l'
ID |
557939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ash2l
|
Ensembl Gene |
ENSMUSG00000031575 |
Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
Synonyms |
|
MMRRC Submission |
045227-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7166 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26306028-26337722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26317348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 335
(G335V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070957
(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: G335V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070957 Gene: ENSMUSG00000031575 AA Change: G335V
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: G246V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106238 Gene: ENSMUSG00000031575 AA Change: G246V
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: G246V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106239 Gene: ENSMUSG00000031575 AA Change: G246V
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: G246V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106240 Gene: ENSMUSG00000031575 AA Change: G246V
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: A304S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118346 Gene: ENSMUSG00000031575 AA Change: A304S
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 |
possibly damaging
Transcript: ENSMUST00000151856
AA Change: A310S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117488 Gene: ENSMUSG00000031575 AA Change: A310S
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: G246V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132546 Gene: ENSMUSG00000031575 AA Change: G246V
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 |
|
Meta Mutation Damage Score |
0.7262 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (52/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
T |
C |
5: 88,615,387 (GRCm39) |
L272P |
possibly damaging |
Het |
Atp13a1 |
T |
A |
8: 70,251,966 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
G |
A |
4: 140,734,295 (GRCm39) |
R1139Q |
possibly damaging |
Het |
Atxn2 |
T |
A |
5: 121,934,460 (GRCm39) |
N886K |
possibly damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,150 (GRCm39) |
C2512F |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,875,843 (GRCm39) |
V449A |
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,758,839 (GRCm39) |
C70* |
probably null |
Het |
Chfr |
C |
A |
5: 110,306,671 (GRCm39) |
P472Q |
probably benign |
Het |
Crybg2 |
G |
A |
4: 133,788,193 (GRCm39) |
R22Q |
probably damaging |
Het |
Eef2k |
T |
C |
7: 120,483,995 (GRCm39) |
F244L |
probably damaging |
Het |
Efcab11 |
A |
T |
12: 99,849,614 (GRCm39) |
M23K |
|
Het |
Eif4a3l2 |
A |
G |
6: 116,528,329 (GRCm39) |
I69V |
probably benign |
Het |
Ercc8 |
T |
A |
13: 108,305,967 (GRCm39) |
M114K |
possibly damaging |
Het |
Fam217a |
T |
C |
13: 35,094,298 (GRCm39) |
Y487C |
probably benign |
Het |
Farsb |
T |
C |
1: 78,447,821 (GRCm39) |
N205S |
probably benign |
Het |
Glra1 |
A |
G |
11: 55,405,904 (GRCm39) |
F370S |
probably benign |
Het |
Gm12258 |
T |
A |
11: 58,749,299 (GRCm39) |
M158K |
|
Het |
Gm14305 |
T |
A |
2: 176,412,736 (GRCm39) |
H209Q |
probably damaging |
Het |
Gm4924 |
A |
T |
10: 82,214,035 (GRCm39) |
Q611L |
unknown |
Het |
H4c11 |
A |
G |
13: 21,919,321 (GRCm39) |
H19R |
unknown |
Het |
Haus6 |
T |
C |
4: 86,501,924 (GRCm39) |
E649G |
possibly damaging |
Het |
Hlcs |
C |
T |
16: 94,063,585 (GRCm39) |
D345N |
possibly damaging |
Het |
Htt |
C |
A |
5: 35,010,238 (GRCm39) |
Q1564K |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,355,151 (GRCm39) |
V481I |
probably benign |
Het |
Jak3 |
T |
C |
8: 72,134,960 (GRCm39) |
I531T |
probably damaging |
Het |
Kng1 |
T |
A |
16: 22,898,428 (GRCm39) |
H609Q |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,746,446 (GRCm39) |
S4131T |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,653,889 (GRCm39) |
S31P |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,121 (GRCm39) |
F104L |
possibly damaging |
Het |
Or4c100 |
A |
T |
2: 88,355,990 (GRCm39) |
Q21L |
possibly damaging |
Het |
Or8h8 |
T |
A |
2: 86,753,092 (GRCm39) |
K261N |
probably damaging |
Het |
Paxx |
A |
T |
2: 25,350,238 (GRCm39) |
L123Q |
probably damaging |
Het |
Prdm13 |
C |
T |
4: 21,683,528 (GRCm39) |
R144Q |
unknown |
Het |
Rab2b |
C |
A |
14: 52,516,802 (GRCm39) |
|
probably benign |
Het |
Rnf207 |
A |
G |
4: 152,396,237 (GRCm39) |
I509T |
probably damaging |
Het |
Ropn1l |
T |
C |
15: 31,453,655 (GRCm39) |
Q12R |
|
Het |
Ryr3 |
T |
G |
2: 112,705,373 (GRCm39) |
Y847S |
probably damaging |
Het |
Slc1a6 |
A |
T |
10: 78,648,646 (GRCm39) |
T456S |
possibly damaging |
Het |
Slc26a2 |
A |
T |
18: 61,331,901 (GRCm39) |
M510K |
possibly damaging |
Het |
Slc5a9 |
T |
C |
4: 111,741,036 (GRCm39) |
T537A |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,031,939 (GRCm39) |
Y132H |
unknown |
Het |
Sltm |
T |
C |
9: 70,492,132 (GRCm39) |
L725S |
probably damaging |
Het |
Spz1 |
A |
G |
13: 92,712,435 (GRCm39) |
C14R |
probably benign |
Het |
Srrm4 |
T |
A |
5: 116,609,301 (GRCm39) |
Q172L |
unknown |
Het |
Synj2bp |
T |
C |
12: 81,551,289 (GRCm39) |
D92G |
probably benign |
Het |
Tmem169 |
A |
C |
1: 72,340,229 (GRCm39) |
T220P |
probably benign |
Het |
Ttn |
T |
A |
2: 76,718,372 (GRCm39) |
I7270F |
unknown |
Het |
Txndc16 |
T |
G |
14: 45,420,611 (GRCm39) |
N137H |
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,976,389 (GRCm39) |
Y2499H |
|
Het |
Ugt2b38 |
T |
C |
5: 87,558,305 (GRCm39) |
D452G |
probably damaging |
Het |
Zfp12 |
T |
A |
5: 143,231,257 (GRCm39) |
I560N |
possibly damaging |
Het |
Zfp60 |
A |
G |
7: 27,448,937 (GRCm39) |
K535R |
possibly damaging |
Het |
Zfp960 |
T |
A |
17: 17,308,761 (GRCm39) |
C492S |
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 |
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 |
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'- GCAGCCCAATTACTAAATGATCTC -3'
(R):5'- AAGTCTTTGCAGGGCTCAGG -3'
Sequencing Primer
(F):5'- GATCTCATTAAAACTTACACACCTCG -3'
(R):5'- GTGTGTGTTCTACCAGAAACAACAG -3'
|
Posted On |
2019-06-26 |