Incidental Mutation 'R2062:Ascc2'
ID228778
Institutional Source Beutler Lab
Gene Symbol Ascc2
Ensembl Gene ENSMUSG00000020412
Gene Nameactivating signal cointegrator 1 complex subunit 2
Synonyms1700011I11Rik, ASC1p100, 2610034L15Rik
MMRRC Submission 040067-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2062 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location4637747-4685699 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4681496 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 646 (M646L)
Ref Sequence ENSEMBL: ENSMUSP00000105556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070257] [ENSMUST00000109930]
Predicted Effect probably benign
Transcript: ENSMUST00000070257
AA Change: M686L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: M686L

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 benign
Transcript: ENSMUST00000109930
AA Change: M646L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: M646L

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
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 67,920,702 I184L probably benign Het
A2ml1 A T 6: 128,552,308 M957K probably benign Het
Adam7 C A 14: 68,505,161 V668F probably benign Het
Adcy7 T G 8: 88,312,274 L306R probably damaging Het
Akt3 A G 1: 177,102,985 S136P possibly damaging Het
Alox12e G A 11: 70,316,002 R620W probably damaging Het
Amy2a1 T C 3: 113,530,568 I108V probably benign Het
Ano7 T C 1: 93,390,313 V249A probably benign Het
Aox1 T C 1: 58,059,192 probably null Het
Asah2 A T 19: 32,024,874 V290E probably damaging Het
Atxn2l T A 7: 126,495,866 K421N probably damaging Het
Cars2 T C 8: 11,547,747 I110V probably damaging Het
Ccdc74a A G 16: 17,650,026 N249S probably benign Het
Cenpe T C 3: 135,222,321 probably benign Het
Clptm1l C T 13: 73,607,723 Q153* probably null Het
Cnep1r1 G T 8: 88,118,817 probably benign Het
Cyp2d37-ps C T 15: 82,690,088 noncoding transcript Het
Cyp3a25 A G 5: 145,986,969 probably benign Het
Dis3l G T 9: 64,339,573 Q67K probably benign Het
Dnah1 A G 14: 31,271,129 V2936A probably damaging Het
Dnah5 C T 15: 28,366,270 R2710C probably damaging Het
Dtx2 C T 5: 136,030,577 S493F probably damaging Het
Dvl3 G A 16: 20,526,351 S361N probably benign Het
Ehd1 T C 19: 6,298,078 L362P probably benign Het
Eif2ak3 T C 6: 70,904,197 V1085A probably benign Het
Eif3b T C 5: 140,426,453 Y226H probably damaging Het
Endov T C 11: 119,499,582 F12S probably damaging Het
Ercc1 A G 7: 19,354,370 *37W probably null Het
Evi2a G A 11: 79,527,767 Q6* probably null Het
Faah C T 4: 115,998,573 V552M probably damaging Het
Fat1 T A 8: 45,024,332 N2138K probably damaging Het
Fat1 T A 8: 45,026,704 V2929E probably damaging Het
Gm2959 A G 14: 42,413,701 noncoding transcript Het
Gm6327 A T 16: 12,761,115 noncoding transcript Het
Gm9912 T C 3: 149,185,159 T113A unknown Het
Gtf2f2 A G 14: 75,917,696 S142P possibly damaging Het
Hspg2 A T 4: 137,559,367 T3666S possibly damaging Het
Htt C T 5: 34,825,982 T975I probably benign Het
Il2rg A G X: 101,267,810 L57P possibly damaging Het
Iqgap1 G A 7: 80,723,979 Q1421* probably null Het
Itga3 T A 11: 95,054,076 Q802L possibly damaging Het
Lonp2 A G 8: 86,665,775 T490A probably damaging Het
Lztr1 T C 16: 17,509,670 V79A probably damaging Het
Mast4 C T 13: 102,759,093 E736K probably benign Het
Mpp4 G A 1: 59,143,782 P322L possibly damaging Het
Mrto4 T C 4: 139,349,023 K86E probably benign Het
Myof A G 19: 37,915,746 V2A possibly damaging Het
Naf1 A G 8: 66,887,780 D414G probably damaging Het
Nav3 G A 10: 109,720,021 T1683M probably damaging Het
Nbea A G 3: 56,086,157 probably benign Het
Nebl A T 2: 17,397,121 M427K probably benign Het
Ngdn T C 14: 55,022,107 V205A possibly damaging Het
Nup133 C A 8: 123,914,575 D869Y probably damaging Het
Oas1g T C 5: 120,885,883 E121G probably damaging Het
Olfr1034 A G 2: 86,046,955 T158A probably damaging Het
Olfr1404 T C 1: 173,215,710 F20L probably benign Het
Olfr322 G T 11: 58,665,982 C141F probably damaging Het
Olfr324 A G 11: 58,597,570 N58S probably damaging Het
Olfr775 T A 10: 129,251,132 Y199* probably null Het
Park7 T C 4: 150,905,275 N76S probably benign Het
Pcdh8 A T 14: 79,768,211 S912R probably damaging Het
Pkhd1 A G 1: 20,201,335 I2998T probably damaging Het
Plxnb3 T A X: 73,771,751 Y1845* probably null Het
Ppard A G 17: 28,299,689 H388R probably damaging Het
Psma1 A G 7: 114,269,766 S142P possibly damaging Het
Pth2r T C 1: 65,343,562 I158T probably damaging Het
Rbl2 C A 8: 91,106,739 P714Q probably damaging Het
Rexo2 A T 9: 48,474,513 S104T possibly damaging Het
Sema5a T C 15: 32,609,217 probably benign Het
Sun2 A G 15: 79,738,651 L109P probably damaging Het
Tdg A G 10: 82,641,534 T116A probably benign Het
Terb1 A T 8: 104,468,748 M587K possibly damaging Het
Tex43 C T 18: 56,588,463 Q25* probably null Het
Tmcc1 C T 6: 116,043,058 V118M probably benign Het
Tnfsf11 T A 14: 78,278,922 N202I probably damaging Het
Togaram2 T C 17: 71,716,365 S759P probably benign Het
Ttc7b G A 12: 100,325,689 A208V probably damaging Het
Tti2 T C 8: 31,154,310 probably benign Het
Wnk1 T C 6: 119,928,157 probably null Het
Zfyve26 T C 12: 79,284,032 probably null Het
Zfyve28 T C 5: 34,234,337 M157V probably null Het
Zgrf1 T C 3: 127,613,350 C1589R probably damaging Het
Other mutations in Ascc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02749:Ascc2 APN 11 4640481 critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CACATACTCCCTGTGGTGTG -3'
(R):5'- CACACTTCATCTTTAGGCAGCAC -3'

Sequencing Primer
(F):5'- TTTCACCCCGGCAGCAC -3'
(R):5'- CTTCATCTTTAGGCAGCACTTAATG -3'
Posted On2014-09-17