Incidental Mutation 'IGL03247:Mphosph8'
ID414460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mphosph8
Ensembl Gene ENSMUSG00000079184
Gene NameM-phase phosphoprotein 8
Synonyms4930548G07Rik, 1500035L22Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.626) question?
Stock #IGL03247
Quality Score
Status
Chromosome14
Chromosomal Location56668248-56697430 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 56678820 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116468]
Predicted Effect probably null
Transcript: ENSMUST00000116468
SMART Domains Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
CHROMO 58 111 6.2e-13 SMART
low complexity region 152 160 N/A INTRINSIC
coiled coil region 226 256 N/A INTRINSIC
low complexity region 325 336 N/A INTRINSIC
low complexity region 405 417 N/A INTRINSIC
Blast:ANK 563 592 1e-7 BLAST
ANK 598 627 4.43e-2 SMART
ANK 631 660 5.45e-2 SMART
ANK 664 693 1.08e-5 SMART
Blast:ANK 697 726 5e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130246
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Dolk T C 2: 30,285,511 Y174C probably damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
Gid4 C A 11: 60,432,343 T87N probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Il1rapl2 G A X: 138,789,680 G298D probably damaging Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mrps23 A G 11: 88,210,096 probably benign Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr693 T A 7: 106,677,547 H313L probably benign Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P probably benign Het
Other mutations in Mphosph8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Mphosph8 APN 14 56674443 missense probably benign 0.00
IGL00786:Mphosph8 APN 14 56672544 missense probably benign 0.00
IGL01635:Mphosph8 APN 14 56672546 missense probably damaging 0.99
IGL02104:Mphosph8 APN 14 56674579 missense probably benign 0.02
IGL02387:Mphosph8 APN 14 56695721 missense probably damaging 1.00
IGL02486:Mphosph8 APN 14 56688387 missense possibly damaging 0.80
IGL02547:Mphosph8 APN 14 56672484 missense probably damaging 1.00
IGL02578:Mphosph8 APN 14 56674210 missense probably benign
IGL03377:Mphosph8 APN 14 56693486 missense probably damaging 1.00
R0412:Mphosph8 UTSW 14 56674413 missense probably damaging 0.97
R0647:Mphosph8 UTSW 14 56674405 missense probably benign
R1079:Mphosph8 UTSW 14 56674259 missense probably damaging 1.00
R1451:Mphosph8 UTSW 14 56668421 missense possibly damaging 0.62
R1486:Mphosph8 UTSW 14 56689039 missense probably damaging 1.00
R1687:Mphosph8 UTSW 14 56672478 missense probably damaging 1.00
R1733:Mphosph8 UTSW 14 56693459 missense probably damaging 1.00
R1809:Mphosph8 UTSW 14 56672452 missense probably damaging 1.00
R1844:Mphosph8 UTSW 14 56697159 missense probably damaging 1.00
R2132:Mphosph8 UTSW 14 56678704 missense probably benign 0.04
R4242:Mphosph8 UTSW 14 56674314 missense probably benign 0.00
R4261:Mphosph8 UTSW 14 56674465 missense probably benign 0.00
R4563:Mphosph8 UTSW 14 56691000 missense probably benign 0.00
R4962:Mphosph8 UTSW 14 56678589 missense probably benign 0.27
R5121:Mphosph8 UTSW 14 56676546 nonsense probably null
R6082:Mphosph8 UTSW 14 56668541 missense probably damaging 1.00
R6224:Mphosph8 UTSW 14 56668353 start codon destroyed probably null
R6455:Mphosph8 UTSW 14 56688486 missense probably damaging 1.00
R7086:Mphosph8 UTSW 14 56668523 missense possibly damaging 0.94
R7236:Mphosph8 UTSW 14 56674297 missense possibly damaging 0.63
R7266:Mphosph8 UTSW 14 56685040 missense possibly damaging 0.89
R7564:Mphosph8 UTSW 14 56674038 missense probably benign
R8313:Mphosph8 UTSW 14 56678605 frame shift probably null
R8508:Mphosph8 UTSW 14 56676546 nonsense probably null
Posted On2016-08-02