Incidental Mutation 'IGL01469:Scaper'
ID 88199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaper
Ensembl Gene ENSMUSG00000034007
Gene Name S phase cyclin A-associated protein in the ER
Synonyms Zfp291, D530014O03Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # IGL01469
Quality Score
Status
Chromosome 9
Chromosomal Location 55457163-55845403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55767051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 466 (D466G)
Ref Sequence ENSEMBL: ENSMUSP00000149750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037408] [ENSMUST00000214747] [ENSMUST00000216595] [ENSMUST00000217647]
AlphaFold F8VQ70
Predicted Effect probably damaging
Transcript: ENSMUST00000037408
AA Change: D466G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: D466G

DomainStartEndE-ValueType
Pfam:SCAPER_N 88 185 3.4e-47 PFAM
low complexity region 323 338 N/A INTRINSIC
coiled coil region 415 466 N/A INTRINSIC
coiled coil region 535 597 N/A INTRINSIC
SCOP:d1eq1a_ 605 769 3e-6 SMART
ZnF_C2H2 791 815 1.16e1 SMART
low complexity region 866 883 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214747
AA Change: D460G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000216595
Predicted Effect probably damaging
Transcript: ENSMUST00000217647
AA Change: D466G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,192 (GRCm39) Q204R possibly damaging Het
Actn2 C T 13: 12,325,796 (GRCm39) E60K possibly damaging Het
Alpk1 T C 3: 127,471,401 (GRCm39) probably null Het
Ccdc107 A G 4: 43,495,751 (GRCm39) N218S probably benign Het
Cdh23 A T 10: 60,433,504 (GRCm39) M60K probably benign Het
Cenpe A G 3: 134,934,567 (GRCm39) Q378R probably damaging Het
Dnaaf6rt A T 1: 31,262,510 (GRCm39) D164V probably damaging Het
Dnah8 T A 17: 30,902,688 (GRCm39) probably benign Het
Eif2b4 T C 5: 31,345,111 (GRCm39) D190G probably benign Het
Fmo5 A G 3: 97,558,884 (GRCm39) N448S probably benign Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Gbf1 A T 19: 46,267,803 (GRCm39) E1271V probably damaging Het
Ifitm6 A T 7: 140,596,725 (GRCm39) V16D probably damaging Het
Ighv2-4 A G 12: 113,616,966 (GRCm39) probably null Het
Kng2 T A 16: 22,818,577 (GRCm39) K305I probably damaging Het
Lrp1 C T 10: 127,420,283 (GRCm39) R900Q probably damaging Het
Maml1 A G 11: 50,157,353 (GRCm39) M274T probably damaging Het
Med23 A G 10: 24,758,495 (GRCm39) E278G probably damaging Het
Myo1h A G 5: 114,499,330 (GRCm39) T164A probably damaging Het
Ncoa2 A T 1: 13,257,093 (GRCm39) S135R probably benign Het
Nrbf2 A G 10: 67,105,919 (GRCm39) L41P probably damaging Het
Or10a48 A G 7: 108,424,534 (GRCm39) V224A probably benign Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Or1o11 T A 17: 37,756,426 (GRCm39) S5T probably benign Het
Or52e5 T A 7: 104,719,595 (GRCm39) M307K probably benign Het
Or6c6 A G 10: 129,186,449 (GRCm39) M6V probably benign Het
Otoa T C 7: 120,754,496 (GRCm39) probably null Het
Plxnb1 T C 9: 108,934,483 (GRCm39) probably benign Het
Ppp1r42 A T 1: 10,073,458 (GRCm39) probably null Het
Rad54l2 T A 9: 106,599,957 (GRCm39) K100M probably damaging Het
Rnf112 T A 11: 61,342,167 (GRCm39) T308S possibly damaging Het
Sgsm2 T A 11: 74,744,697 (GRCm39) I796L possibly damaging Het
Shank3 T C 15: 89,405,477 (GRCm39) L476P probably damaging Het
Shkbp1 T C 7: 27,055,366 (GRCm39) T6A probably benign Het
Slc14a2 A T 18: 78,198,781 (GRCm39) I783N probably damaging Het
Stat1 A G 1: 52,186,529 (GRCm39) D447G possibly damaging Het
Tekt3 T G 11: 62,964,294 (GRCm39) I208S probably damaging Het
Tenm3 A T 8: 48,689,458 (GRCm39) V2043E probably damaging Het
Tgm3 T C 2: 129,866,414 (GRCm39) Y111H probably damaging Het
Tph2 T A 10: 114,915,664 (GRCm39) R459* probably null Het
Vmn2r109 T C 17: 20,761,671 (GRCm39) Y562C probably damaging Het
Other mutations in Scaper
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Scaper APN 9 55,767,143 (GRCm39) missense probably damaging 0.99
IGL00912:Scaper APN 9 55,593,239 (GRCm39) missense probably damaging 1.00
IGL01626:Scaper APN 9 55,819,335 (GRCm39) missense possibly damaging 0.61
IGL01779:Scaper APN 9 55,799,524 (GRCm39) missense probably benign 0.20
IGL02011:Scaper APN 9 55,487,606 (GRCm39) missense probably damaging 1.00
IGL02997:Scaper APN 9 55,722,783 (GRCm39) missense probably damaging 1.00
IGL03107:Scaper APN 9 55,765,686 (GRCm39) splice site probably benign
IGL03167:Scaper APN 9 55,767,108 (GRCm39) missense probably damaging 1.00
IGL03293:Scaper APN 9 55,782,107 (GRCm39) missense probably benign
IGL03340:Scaper APN 9 55,510,116 (GRCm39) missense possibly damaging 0.88
IGL03368:Scaper APN 9 55,563,311 (GRCm39) missense possibly damaging 0.53
R0111:Scaper UTSW 9 55,510,074 (GRCm39) missense probably benign 0.01
R0510:Scaper UTSW 9 55,665,346 (GRCm39) splice site probably benign
R0531:Scaper UTSW 9 55,517,158 (GRCm39) missense possibly damaging 0.91
R0558:Scaper UTSW 9 55,593,207 (GRCm39) missense probably benign 0.08
R0605:Scaper UTSW 9 55,722,802 (GRCm39) splice site probably benign
R0646:Scaper UTSW 9 55,665,340 (GRCm39) missense probably damaging 1.00
R0837:Scaper UTSW 9 55,766,326 (GRCm39) nonsense probably null
R1440:Scaper UTSW 9 55,510,202 (GRCm39) nonsense probably null
R1548:Scaper UTSW 9 55,723,954 (GRCm39) missense probably damaging 1.00
R1777:Scaper UTSW 9 55,771,830 (GRCm39) missense probably benign 0.33
R1822:Scaper UTSW 9 55,767,184 (GRCm39) missense probably damaging 0.99
R1834:Scaper UTSW 9 55,724,018 (GRCm39) missense possibly damaging 0.90
R1870:Scaper UTSW 9 55,593,222 (GRCm39) missense probably damaging 1.00
R2102:Scaper UTSW 9 55,819,334 (GRCm39) missense probably benign 0.43
R2168:Scaper UTSW 9 55,650,923 (GRCm39) missense probably damaging 1.00
R2174:Scaper UTSW 9 55,766,321 (GRCm39) missense probably null 0.01
R3690:Scaper UTSW 9 55,791,205 (GRCm39) missense probably benign 0.00
R4392:Scaper UTSW 9 55,765,399 (GRCm39) missense probably damaging 0.99
R4418:Scaper UTSW 9 55,745,464 (GRCm39) missense probably damaging 1.00
R4606:Scaper UTSW 9 55,563,187 (GRCm39) critical splice donor site probably null
R4643:Scaper UTSW 9 55,745,463 (GRCm39) missense probably damaging 0.99
R4665:Scaper UTSW 9 55,819,339 (GRCm39) missense probably damaging 1.00
R4739:Scaper UTSW 9 55,650,932 (GRCm39) missense probably damaging 1.00
R4921:Scaper UTSW 9 55,799,519 (GRCm39) missense probably benign 0.02
R4934:Scaper UTSW 9 55,716,459 (GRCm39) missense probably damaging 1.00
R4956:Scaper UTSW 9 55,745,426 (GRCm39) missense probably damaging 1.00
R5055:Scaper UTSW 9 55,767,003 (GRCm39) splice site probably null
R5107:Scaper UTSW 9 55,487,616 (GRCm39) missense probably damaging 1.00
R5155:Scaper UTSW 9 55,463,370 (GRCm39) missense probably null 1.00
R5265:Scaper UTSW 9 55,771,830 (GRCm39) missense probably benign
R5408:Scaper UTSW 9 55,493,508 (GRCm39) missense probably damaging 0.99
R5623:Scaper UTSW 9 55,771,791 (GRCm39) missense probably benign 0.02
R5665:Scaper UTSW 9 55,714,916 (GRCm39) missense probably damaging 1.00
R5748:Scaper UTSW 9 55,766,360 (GRCm39) critical splice acceptor site probably null
R5771:Scaper UTSW 9 55,724,075 (GRCm39) missense probably damaging 1.00
R6534:Scaper UTSW 9 55,791,260 (GRCm39) missense probably benign 0.00
R6557:Scaper UTSW 9 55,458,134 (GRCm39) missense probably benign 0.02
R6651:Scaper UTSW 9 55,765,788 (GRCm39) missense probably benign 0.05
R6796:Scaper UTSW 9 55,771,711 (GRCm39) missense probably benign 0.00
R6962:Scaper UTSW 9 55,767,055 (GRCm39) missense probably benign 0.01
R7145:Scaper UTSW 9 55,819,395 (GRCm39) missense unknown
R7199:Scaper UTSW 9 55,745,460 (GRCm39) nonsense probably null
R7356:Scaper UTSW 9 55,799,495 (GRCm39) missense unknown
R7426:Scaper UTSW 9 55,669,561 (GRCm39) nonsense probably null
R7503:Scaper UTSW 9 55,715,038 (GRCm39) missense probably damaging 0.98
R7844:Scaper UTSW 9 55,722,732 (GRCm39) missense probably benign 0.04
R7966:Scaper UTSW 9 55,669,611 (GRCm39) missense probably damaging 0.98
R7992:Scaper UTSW 9 55,765,438 (GRCm39) missense probably benign 0.02
R8081:Scaper UTSW 9 55,823,330 (GRCm39) missense unknown
R8189:Scaper UTSW 9 55,819,404 (GRCm39) missense probably damaging 1.00
R8294:Scaper UTSW 9 55,517,280 (GRCm39) missense possibly damaging 0.62
R8351:Scaper UTSW 9 55,724,088 (GRCm39) missense possibly damaging 0.92
R8451:Scaper UTSW 9 55,724,088 (GRCm39) missense possibly damaging 0.92
R8473:Scaper UTSW 9 55,458,131 (GRCm39) missense probably damaging 1.00
R8476:Scaper UTSW 9 55,669,575 (GRCm39) missense probably damaging 1.00
R8504:Scaper UTSW 9 55,771,722 (GRCm39) missense probably benign
R9058:Scaper UTSW 9 55,722,762 (GRCm39) missense probably damaging 1.00
R9071:Scaper UTSW 9 55,771,803 (GRCm39) missense probably benign
R9099:Scaper UTSW 9 55,669,616 (GRCm39) missense probably damaging 0.98
R9104:Scaper UTSW 9 55,819,400 (GRCm39) missense unknown
R9516:Scaper UTSW 9 55,593,275 (GRCm39) missense probably benign 0.05
R9685:Scaper UTSW 9 55,771,835 (GRCm39) missense probably benign 0.10
X0012:Scaper UTSW 9 55,563,214 (GRCm39) missense probably damaging 0.98
X0052:Scaper UTSW 9 55,723,948 (GRCm39) missense probably damaging 1.00
Z1176:Scaper UTSW 9 55,463,532 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18