Incidental Mutation 'R3013:Ash2l'
| ID |
257567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ash2l
|
| Ensembl Gene |
ENSMUSG00000031575 |
| Gene Name |
ASH2 like histone lysine methyltransferase complex subunit |
| Synonyms |
|
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26306028-26337722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26329792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
| 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: D122G
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: D122G
| 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: D33G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: D33G
| 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 |
possibly damaging
Transcript: ENSMUST00000110609
AA Change: D33G
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: D33G
| 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: ENSMUST00000110610
AA Change: D33G
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: D33G
| 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: D122G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575
AA Change: D122G
| 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: D122G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575
AA Change: D122G
| 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 |
possibly damaging
Transcript: ENSMUST00000166078
AA Change: D33G
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: D33G
| 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 |
0.2155 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
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 |
|
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'- TTGTGAGCAGAGTTGGAGCA -3'
(R):5'- CTTTGGAAGGCGAACTAGATTTGG -3'
Sequencing Primer
(F):5'- CAGAGGTCCTGAGTTCAATTTCCAG -3'
(R):5'- GGCGAACTAGATTTGGTTTTAAAATG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation