Incidental Mutation 'IGL00543:Msl2'
ID332576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msl2
Ensembl Gene ENSMUSG00000066415
Gene NameMSL complex subunit 2
SynonymsMsl2l1, Rnf184
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL00543
Quality Score
Status
Chromosome9
Chromosomal Location101074101-101104800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101101070 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 214 (H214Q)
Ref Sequence ENSEMBL: ENSMUSP00000082270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066773] [ENSMUST00000075941] [ENSMUST00000085177] [ENSMUST00000189616]
Predicted Effect probably benign
Transcript: ENSMUST00000066773
SMART Domains Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154

DomainStartEndE-ValueType
Blast:EFh 140 169 1e-9 BLAST
Pfam:EF-hand_7 282 380 2.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075941
SMART Domains Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154

DomainStartEndE-ValueType
low complexity region 248 266 N/A INTRINSIC
Blast:EFh 760 789 1e-9 BLAST
Pfam:EF-hand_7 902 1000 2.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085177
AA Change: H214Q

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082270
Gene: ENSMUSG00000066415
AA Change: H214Q

DomainStartEndE-ValueType
Pfam:zf-RING_10 42 111 2.8e-36 PFAM
low complexity region 265 281 N/A INTRINSIC
low complexity region 340 351 N/A INTRINSIC
low complexity region 406 424 N/A INTRINSIC
CXC 457 504 1.6e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189616
SMART Domains Protein: ENSMUSP00000139396
Gene: ENSMUSG00000066415

DomainStartEndE-ValueType
PDB:4B86|L 1 47 2e-28 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530003J23Rik G T 10: 117,238,447 T45K probably benign Het
Acvr1c A G 2: 58,315,823 C42R probably damaging Het
Adamts1 T C 16: 85,795,573 H649R probably benign Het
Capn3 T C 2: 120,486,482 probably benign Het
Cd44 T C 2: 102,855,947 T135A possibly damaging Het
Cntnap5c T A 17: 58,294,350 I831N probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Epx T C 11: 87,869,925 R394G probably damaging Het
Fam129b T A 2: 32,912,471 F158Y probably benign Het
Hps5 T C 7: 46,778,073 D338G probably benign Het
Ikbkg T C X: 74,432,860 V14A probably damaging Het
Lrp1b A G 2: 41,468,948 F638L possibly damaging Het
Mak A T 13: 41,055,713 Y87N probably damaging Het
Morc2a T A 11: 3,680,283 I493N probably damaging Het
Myom3 A C 4: 135,762,571 T18P possibly damaging Het
Ndst3 G T 3: 123,672,263 T20N probably damaging Het
Nelfe T A 17: 34,853,616 S124T possibly damaging Het
Nlgn1 T G 3: 25,433,781 T797P probably damaging Het
Pcdh18 T C 3: 49,753,379 D414G probably damaging Het
Pde4dip T C 3: 97,757,624 S386G possibly damaging Het
Ppig T A 2: 69,749,716 H531Q unknown Het
Ppm1n T C 7: 19,278,184 Y348C probably benign Het
Rdh9 T C 10: 127,790,984 V302A probably benign Het
Serpinb3b A G 1: 107,157,666 probably null Het
Slc39a10 A G 1: 46,819,057 probably benign Het
Other mutations in Msl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Msl2 APN 9 101100655 missense possibly damaging 0.93
IGL02798:Msl2 APN 9 101075377 missense probably benign 0.06
IGL03235:Msl2 APN 9 101100768 missense probably benign 0.03
anguished UTSW 9 101101975 missense possibly damaging 0.66
Appalled UTSW 9 101100843 missense probably benign
Crestfallen UTSW 9 101101091 nonsense probably null
R0497:Msl2 UTSW 9 101101294 missense probably benign 0.00
R1288:Msl2 UTSW 9 101102109 missense probably benign 0.01
R2015:Msl2 UTSW 9 101075251 start gained probably benign
R2038:Msl2 UTSW 9 101101984 missense probably damaging 1.00
R2238:Msl2 UTSW 9 101101370 missense probably benign 0.41
R4393:Msl2 UTSW 9 101101477 missense probably damaging 1.00
R4827:Msl2 UTSW 9 101102151 missense probably benign 0.00
R5290:Msl2 UTSW 9 101101407 splice site probably null
R5567:Msl2 UTSW 9 101101737 missense possibly damaging 0.67
R5934:Msl2 UTSW 9 101101818 missense probably damaging 1.00
R5940:Msl2 UTSW 9 101101091 nonsense probably null
R6339:Msl2 UTSW 9 101101750 missense probably benign
R6736:Msl2 UTSW 9 101101002 missense probably damaging 0.99
R6950:Msl2 UTSW 9 101101975 missense possibly damaging 0.66
R6971:Msl2 UTSW 9 101100843 missense probably benign
R7022:Msl2 UTSW 9 101075282 missense possibly damaging 0.91
R7408:Msl2 UTSW 9 101102117 missense probably benign 0.08
R7955:Msl2 UTSW 9 101102155 missense possibly damaging 0.69
R8069:Msl2 UTSW 9 101100960 missense probably benign
R8281:Msl2 UTSW 9 101101695 missense probably benign 0.10
Posted On2015-08-05