Incidental Mutation 'IGL01469:Scaper'
ID88199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaper
Ensembl Gene ENSMUSG00000034007
Gene NameS phase cyclin A-associated protein in the ER
SynonymsD530014O03Rik, Zfp291
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.491) question?
Stock #IGL01469
Quality Score
Status
Chromosome9
Chromosomal Location55549879-55938119 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55859767 bp
ZygosityHeterozygous
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]
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
9430007A20Rik A G 4: 144,528,622 Q204R possibly damaging Het
Actn2 C T 13: 12,310,910 E60K possibly damaging Het
Alpk1 T C 3: 127,677,752 probably null Het
Ccdc107 A G 4: 43,495,751 N218S probably benign Het
Cdh23 A T 10: 60,597,725 M60K probably benign Het
Cenpe A G 3: 135,228,806 Q378R probably damaging Het
Dnah8 T A 17: 30,683,714 probably benign Het
Eif2b4 T C 5: 31,187,767 D190G probably benign Het
Fmo5 A G 3: 97,651,568 N448S probably benign Het
Gal3st2c A G 1: 94,009,317 N328S probably benign Het
Gbf1 A T 19: 46,279,364 E1271V probably damaging Het
Ifitm6 A T 7: 141,016,812 V16D probably damaging Het
Ighv2-4 A G 12: 113,653,346 probably null Het
Kng2 T A 16: 22,999,827 K305I probably damaging Het
Lrp1 C T 10: 127,584,414 R900Q probably damaging Het
Maml1 A G 11: 50,266,526 M274T probably damaging Het
Med23 A G 10: 24,882,597 E278G probably damaging Het
Myo1h A G 5: 114,361,269 T164A probably damaging Het
Ncoa2 A T 1: 13,186,869 S135R probably benign Het
Nrbf2 A G 10: 67,270,140 L41P probably damaging Het
Olfr108 T A 17: 37,445,535 S5T probably benign Het
Olfr341 T C 2: 36,479,824 Y102C probably benign Het
Olfr514 A G 7: 108,825,327 V224A probably benign Het
Olfr678 T A 7: 105,070,388 M307K probably benign Het
Olfr782 A G 10: 129,350,580 M6V probably benign Het
Otoa T C 7: 121,155,273 probably null Het
Pih1d3 A T 1: 31,223,429 D164V probably damaging Het
Plxnb1 T C 9: 109,105,415 probably benign Het
Ppp1r42 A T 1: 10,003,233 probably null Het
Rad54l2 T A 9: 106,722,758 K100M probably damaging Het
Rnf112 T A 11: 61,451,341 T308S possibly damaging Het
Sgsm2 T A 11: 74,853,871 I796L possibly damaging Het
Shank3 T C 15: 89,521,274 L476P probably damaging Het
Shkbp1 T C 7: 27,355,941 T6A probably benign Het
Slc14a2 A T 18: 78,155,566 I783N probably damaging Het
Stat1 A G 1: 52,147,370 D447G possibly damaging Het
Tekt3 T G 11: 63,073,468 I208S probably damaging Het
Tenm3 A T 8: 48,236,423 V2043E probably damaging Het
Tgm3 T C 2: 130,024,494 Y111H probably damaging Het
Tph2 T A 10: 115,079,759 R459* probably null Het
Vmn2r109 T C 17: 20,541,409 Y562C probably damaging Het
Other mutations in Scaper
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Scaper APN 9 55859859 missense probably damaging 0.99
IGL00912:Scaper APN 9 55685955 missense probably damaging 1.00
IGL01626:Scaper APN 9 55912051 missense possibly damaging 0.61
IGL01779:Scaper APN 9 55892240 missense probably benign 0.20
IGL02011:Scaper APN 9 55580322 missense probably damaging 1.00
IGL02997:Scaper APN 9 55815499 missense probably damaging 1.00
IGL03107:Scaper APN 9 55858402 splice site probably benign
IGL03167:Scaper APN 9 55859824 missense probably damaging 1.00
IGL03293:Scaper APN 9 55874823 missense probably benign
IGL03340:Scaper APN 9 55602832 missense possibly damaging 0.88
IGL03368:Scaper APN 9 55656027 missense possibly damaging 0.53
R0111:Scaper UTSW 9 55602790 missense probably benign 0.01
R0510:Scaper UTSW 9 55758062 splice site probably benign
R0531:Scaper UTSW 9 55609874 missense possibly damaging 0.91
R0558:Scaper UTSW 9 55685923 missense probably benign 0.08
R0605:Scaper UTSW 9 55815518 splice site probably benign
R0646:Scaper UTSW 9 55758056 missense probably damaging 1.00
R0837:Scaper UTSW 9 55859042 nonsense probably null
R1440:Scaper UTSW 9 55602918 nonsense probably null
R1548:Scaper UTSW 9 55816670 missense probably damaging 1.00
R1777:Scaper UTSW 9 55864546 missense probably benign 0.33
R1822:Scaper UTSW 9 55859900 missense probably damaging 0.99
R1834:Scaper UTSW 9 55816734 missense possibly damaging 0.90
R1870:Scaper UTSW 9 55685938 missense probably damaging 1.00
R2102:Scaper UTSW 9 55912050 missense probably benign 0.43
R2168:Scaper UTSW 9 55743639 missense probably damaging 1.00
R2174:Scaper UTSW 9 55859037 missense probably null 0.01
R3690:Scaper UTSW 9 55883921 missense probably benign 0.00
R4392:Scaper UTSW 9 55858115 missense probably damaging 0.99
R4418:Scaper UTSW 9 55838180 missense probably damaging 1.00
R4606:Scaper UTSW 9 55655903 critical splice donor site probably null
R4643:Scaper UTSW 9 55838179 missense probably damaging 0.99
R4665:Scaper UTSW 9 55912055 missense probably damaging 1.00
R4739:Scaper UTSW 9 55743648 missense probably damaging 1.00
R4921:Scaper UTSW 9 55892235 missense probably benign 0.02
R4934:Scaper UTSW 9 55809175 missense probably damaging 1.00
R4956:Scaper UTSW 9 55838142 missense probably damaging 1.00
R5055:Scaper UTSW 9 55859719 intron probably null
R5107:Scaper UTSW 9 55580332 missense probably damaging 1.00
R5155:Scaper UTSW 9 55556086 missense probably null 1.00
R5265:Scaper UTSW 9 55864546 missense probably benign
R5408:Scaper UTSW 9 55586224 missense probably damaging 0.99
R5623:Scaper UTSW 9 55864507 missense probably benign 0.02
R5665:Scaper UTSW 9 55807632 missense probably damaging 1.00
R5748:Scaper UTSW 9 55859076 critical splice acceptor site probably null
R5771:Scaper UTSW 9 55816791 missense probably damaging 1.00
R6534:Scaper UTSW 9 55883976 missense probably benign 0.00
R6557:Scaper UTSW 9 55550850 missense probably benign 0.02
R6651:Scaper UTSW 9 55858504 missense probably benign 0.05
R6796:Scaper UTSW 9 55864427 missense probably benign 0.00
R6962:Scaper UTSW 9 55859771 missense probably benign 0.01
R7145:Scaper UTSW 9 55912111 missense unknown
X0012:Scaper UTSW 9 55655930 missense probably damaging 0.98
X0052:Scaper UTSW 9 55816664 missense probably damaging 1.00
Posted On2013-11-18