Incidental Mutation 'IGL02749:Ascc2'
ID306226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ascc2
Ensembl Gene ENSMUSG00000020412
Gene Nameactivating signal cointegrator 1 complex subunit 2
Synonyms1700011I11Rik, ASC1p100, 2610034L15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02749
Quality Score
Status
Chromosome11
Chromosomal Location4637747-4685699 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 4640481 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070257] [ENSMUST00000109930]
Predicted Effect probably null
Transcript: ENSMUST00000070257
SMART Domains Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412

DomainStartEndE-ValueType
CUE 465 507 7.59e-11 SMART
low complexity region 599 614 N/A INTRINSIC
low complexity region 648 663 N/A INTRINSIC
low complexity region 718 735 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109930
SMART Domains Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412

DomainStartEndE-ValueType
CUE 465 507 7.59e-11 SMART
low complexity region 559 574 N/A INTRINSIC
low complexity region 608 623 N/A INTRINSIC
low complexity region 678 695 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Ascc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0485:Ascc2 UTSW 11 4672302 missense probably benign 0.01
R0632:Ascc2 UTSW 11 4649855 missense probably damaging 1.00
R0690:Ascc2 UTSW 11 4682933 missense probably damaging 1.00
R0942:Ascc2 UTSW 11 4668380 missense probably benign 0.31
R1893:Ascc2 UTSW 11 4672305 missense probably benign 0.01
R1991:Ascc2 UTSW 11 4679257 missense probably benign
R2062:Ascc2 UTSW 11 4681496 missense probably benign
R2063:Ascc2 UTSW 11 4681496 missense probably benign
R2065:Ascc2 UTSW 11 4681496 missense probably benign
R2067:Ascc2 UTSW 11 4681496 missense probably benign
R2068:Ascc2 UTSW 11 4681496 missense probably benign
R2292:Ascc2 UTSW 11 4679352 splice site probably benign
R3076:Ascc2 UTSW 11 4672446 missense probably damaging 1.00
R4436:Ascc2 UTSW 11 4656305 missense probably damaging 1.00
R4783:Ascc2 UTSW 11 4646653 missense probably benign 0.01
R5211:Ascc2 UTSW 11 4673399 missense possibly damaging 0.95
R5395:Ascc2 UTSW 11 4659273 missense possibly damaging 0.92
R5859:Ascc2 UTSW 11 4658284 missense probably benign 0.11
R5917:Ascc2 UTSW 11 4681506 missense probably benign 0.03
R7569:Ascc2 UTSW 11 4679506 missense probably damaging 1.00
R7875:Ascc2 UTSW 11 4668389 missense probably benign 0.00
R8411:Ascc2 UTSW 11 4647208 missense probably damaging 1.00
R8431:Ascc2 UTSW 11 4664227 critical splice acceptor site probably null
X0011:Ascc2 UTSW 11 4658297 missense probably benign
Z1088:Ascc2 UTSW 11 4646656 missense probably benign 0.03
Z1176:Ascc2 UTSW 11 4646653 missense probably benign 0.01
Z1176:Ascc2 UTSW 11 4672487 missense probably benign
Posted On2015-04-16