Incidental Mutation 'R6954:Ash2l'
ID541369
Institutional Source Beutler Lab
Gene Symbol Ash2l
Ensembl Gene ENSMUSG00000031575
Gene NameASH2 like histone lysine methyltransferase complex subunit
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6954 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location25815996-25847694 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25822768 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 391 (V391A)
Ref Sequence ENSEMBL: ENSMUSP00000132546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068892] [ENSMUST00000110608] [ENSMUST00000110609] [ENSMUST00000110610] [ENSMUST00000139946] [ENSMUST00000151856] [ENSMUST00000166078]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068892
AA Change: V480A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: V480A

DomainStartEndE-ValueType
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: V391A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: V391A

DomainStartEndE-ValueType
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: V391A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: V391A

DomainStartEndE-ValueType
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: V391A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: V391A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: V391A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: V391A

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (57/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T A 11: 58,608,488 Y168F probably benign Het
4930451I11Rik A T 7: 126,830,637 probably null Het
Alox5 A C 6: 116,420,280 Y314* probably null Het
Ap4e1 T C 2: 127,064,951 S1044P probably benign Het
B4galnt4 A G 7: 141,067,232 T326A probably benign Het
Ccm2 T A 11: 6,594,239 I345N probably damaging Het
Cntnap3 G A 13: 64,748,559 H1034Y probably benign Het
Cpsf1 A G 15: 76,599,496 L849S probably damaging Het
Ctrb1 A G 8: 111,686,664 S239P probably damaging Het
D13Ertd608e A G 13: 119,846,130 D20G possibly damaging Het
Dennd1b T A 1: 139,168,945 probably benign Het
Dnah17 A G 11: 118,066,432 I2773T probably damaging Het
Eif2b2 T A 12: 85,226,043 F267L probably damaging Het
Fcrls A G 3: 87,263,676 probably benign Het
Furin G T 7: 80,396,964 D181E possibly damaging Het
Gm29106 T A 1: 118,200,587 C670S probably damaging Het
Gm6309 A T 5: 146,168,490 D204E possibly damaging Het
Hsf2 T A 10: 57,504,643 I191N probably damaging Het
Hspa12a T C 19: 58,799,692 D566G probably benign Het
Igf1 G C 10: 87,864,860 V49L probably damaging Het
Igfbpl1 C T 4: 45,826,663 C44Y probably damaging Het
Letm1 G A 5: 33,782,507 R16C probably benign Het
Marf1 A G 16: 14,138,520 V819A probably damaging Het
Mfsd4b4 A T 10: 39,891,952 S428T probably benign Het
Myo1d T C 11: 80,674,957 I347M probably benign Het
Myo9b A G 8: 71,290,819 I175V probably damaging Het
Naip5 A T 13: 100,223,414 V438E probably damaging Het
Nup205 T A 6: 35,208,109 V768E possibly damaging Het
Olfr1015 T A 2: 85,786,382 Y290* probably null Het
Olfr731 A T 14: 50,238,110 Y258* probably null Het
Pcdh15 C T 10: 74,645,989 H1651Y possibly damaging Het
Pdgfra A T 5: 75,173,394 Q376L possibly damaging Het
Pign T C 1: 105,553,897 I791M probably benign Het
Pik3c2b T G 1: 133,066,303 S2A possibly damaging Het
Pip5k1a A T 3: 95,068,247 I304K probably damaging Het
Pkdrej A T 15: 85,817,853 L1294* probably null Het
Pprc1 T C 19: 46,064,433 S797P probably damaging Het
Prob1 A G 18: 35,654,268 V311A probably benign Het
Prune2 C A 19: 17,000,021 T40K probably damaging Het
Rif1 T G 2: 52,112,691 D2052E probably benign Het
Sall1 A G 8: 89,032,891 V195A probably damaging Het
Scfd1 T C 12: 51,427,946 probably null Het
Sidt2 A T 9: 45,952,850 N123K probably benign Het
Slc22a6 G A 19: 8,622,096 A320T probably benign Het
Slc25a10 A G 11: 120,498,147 H279R probably benign Het
Slc35b4 A G 6: 34,158,621 V252A probably benign Het
Slc46a3 T C 5: 147,886,340 T231A probably benign Het
Stxbp1 T A 2: 32,801,893 H429L probably damaging Het
Tas2r134 C T 2: 51,627,770 T87I probably benign Het
Tdpoz2 A T 3: 93,652,275 L130H probably damaging Het
Tmem69 T C 4: 116,554,724 probably null Het
Tmppe G A 9: 114,405,523 V297I probably benign Het
Ung G T 5: 114,131,337 A37S probably benign Het
Vdac1 T C 11: 52,386,373 Y237H probably damaging Het
Vgll4 T C 6: 114,921,367 Y11C probably damaging Het
Vmn1r24 A G 6: 57,956,452 I27T probably benign Het
Zfp280b T A 10: 76,039,688 M467K probably benign Het
Zkscan4 A G 13: 21,484,365 I329V probably damaging Het
Other mutations in Ash2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01835:Ash2l APN 8 25839840 missense probably damaging 1.00
IGL01913:Ash2l APN 8 25819624 critical splice donor site probably null
IGL02379:Ash2l APN 8 25822771 missense probably damaging 1.00
IGL03149:Ash2l APN 8 25818622 missense probably benign 0.00
R0639:Ash2l UTSW 8 25823291 missense possibly damaging 0.83
R1217:Ash2l UTSW 8 25822885 missense probably damaging 0.97
R1244:Ash2l UTSW 8 25817421 missense probably damaging 0.99
R1440:Ash2l UTSW 8 25827378 missense probably benign 0.27
R2282:Ash2l UTSW 8 25835042 missense probably damaging 0.99
R3013:Ash2l UTSW 8 25839764 missense probably damaging 0.96
R3721:Ash2l UTSW 8 25818625 missense probably damaging 1.00
R4155:Ash2l UTSW 8 25817454 missense probably damaging 1.00
R4727:Ash2l UTSW 8 25818595 missense probably damaging 0.99
R5637:Ash2l UTSW 8 25827311 missense probably damaging 1.00
R5973:Ash2l UTSW 8 25817614 missense possibly damaging 0.93
R6473:Ash2l UTSW 8 25834980 missense probably damaging 0.98
R6678:Ash2l UTSW 8 25833777 missense probably damaging 1.00
R6710:Ash2l UTSW 8 25819712 missense possibly damaging 0.63
R7166:Ash2l UTSW 8 25827320 missense probably damaging 1.00
R7266:Ash2l UTSW 8 25827205 nonsense probably null
R7483:Ash2l UTSW 8 25822770 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGGTGACTACTCAGGAACAAAAC -3'
(R):5'- GCAGTTAAACTTGCGGTCCTC -3'

Sequencing Primer
(F):5'- TGTTGCTATGCCTGAAAATGTTC -3'
(R):5'- AAACTTGCGGTCCTCTGATTTTCAC -3'
Posted On2018-11-28