Incidental Mutation 'IGL03167:Scaper'
ID411676
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: 0.485) question?
Stock #IGL03167
Quality Score
Status
Chromosome9
Chromosomal Location55549879-55938119 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55859824 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 441 (E441G)
Ref Sequence ENSEMBL: ENSMUSP00000149050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037408] [ENSMUST00000214747] [ENSMUST00000216595] [ENSMUST00000217647]
Predicted Effect probably damaging
Transcript: ENSMUST00000037408
AA Change: E447G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: E447G

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: E441G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216595
Predicted Effect probably damaging
Transcript: ENSMUST00000217647
AA Change: E447G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,857,659 K921T possibly damaging Het
Agtpbp1 A T 13: 59,532,080 probably benign Het
Ankrd22 A T 19: 34,165,774 M1K probably null Het
Ano5 G A 7: 51,585,511 V698I probably damaging Het
Ccnh A G 13: 85,197,566 probably benign Het
Col15a1 A T 4: 47,282,635 I771F probably damaging Het
Dmrt1 T C 19: 25,545,893 S203P possibly damaging Het
Exoc5 A T 14: 49,051,345 V82E probably damaging Het
Ffar3 A T 7: 30,855,355 V180E probably damaging Het
Fhad1 T C 4: 141,972,797 S381G probably benign Het
Foxf1 C A 8: 121,084,908 Y170* probably null Het
Glis1 A G 4: 107,435,905 D75G possibly damaging Het
Gpr151 T C 18: 42,578,374 H413R probably benign Het
Gtf3c1 T C 7: 125,670,580 probably null Het
Htt T A 5: 34,818,986 F711I probably damaging Het
Il1rapl1 A G X: 86,747,261 I691T possibly damaging Het
Iqgap2 T C 13: 95,684,898 Y579C probably benign Het
Lingo3 A G 10: 80,835,344 S251P probably damaging Het
Mbl1 T A 14: 41,158,586 S144T probably benign Het
Musk A T 4: 58,366,821 R462W possibly damaging Het
Mynn T C 3: 30,609,042 L373P probably damaging Het
Myoz2 G A 3: 123,006,490 R230* probably null Het
Nup35 A G 2: 80,658,316 probably benign Het
Olfr1032 T A 2: 86,008,167 Y130* probably null Het
Olfr305 C T 7: 86,363,920 C139Y probably damaging Het
Olfr710 A G 7: 106,944,645 S119P probably damaging Het
Olfr987 C T 2: 85,331,320 D193N probably benign Het
Pira2 A T 7: 3,840,920 S618T probably damaging Het
Plch1 G A 3: 63,722,744 probably benign Het
Pparg T G 6: 115,473,227 F396V probably damaging Het
Serpinb2 T A 1: 107,522,755 C161S probably benign Het
Skint5 C T 4: 113,893,850 E333K unknown Het
Slc22a8 C T 19: 8,609,958 P461S probably damaging Het
Slc38a6 C T 12: 73,350,537 Q318* probably null Het
Sycp2 T C 2: 178,379,498 K512E probably damaging Het
Tas2r103 T A 6: 133,036,660 N148Y probably damaging Het
Tcf7l1 A G 6: 72,632,996 M257T possibly damaging Het
Tert T A 13: 73,640,000 N792K probably damaging Het
Thada A T 17: 84,458,849 V43E probably damaging Het
Trabd2b T C 4: 114,609,998 S475P probably benign Het
Vmn2r117 A G 17: 23,477,707 V242A probably damaging Het
Ypel3 A T 7: 126,780,075 I107F probably damaging Het
Zfp352 T C 4: 90,224,702 S360P 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
IGL01469:Scaper APN 9 55859767 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
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
R7199:Scaper UTSW 9 55838176 nonsense probably null
R7356:Scaper UTSW 9 55892211 missense unknown
R7426:Scaper UTSW 9 55762277 nonsense probably null
R7503:Scaper UTSW 9 55807754 missense probably damaging 0.98
X0012:Scaper UTSW 9 55655930 missense probably damaging 0.98
X0052:Scaper UTSW 9 55816664 missense probably damaging 1.00
Posted On2016-08-02