Incidental Mutation 'IGL00496:Scaf8'
ID3935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaf8
Ensembl Gene ENSMUSG00000046201
Gene NameSR-related CTD-associated factor 8
SynonymsRbm16, A630086M08Rik, A930036P18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.811) question?
Stock #IGL00496
Quality Score
Status
Chromosome17
Chromosomal Location3114972-3198859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3171134 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 299 (I299F)
Ref Sequence ENSEMBL: ENSMUSP00000076024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076734]
Predicted Effect unknown
Transcript: ENSMUST00000076734
AA Change: I299F
SMART Domains Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: I299F

DomainStartEndE-ValueType
RPR 6 136 1.26e-42 SMART
low complexity region 157 171 N/A INTRINSIC
low complexity region 193 223 N/A INTRINSIC
low complexity region 232 251 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 305 326 N/A INTRINSIC
low complexity region 363 380 N/A INTRINSIC
low complexity region 397 462 N/A INTRINSIC
RRM 478 547 9.2e-14 SMART
low complexity region 644 677 N/A INTRINSIC
low complexity region 685 712 N/A INTRINSIC
low complexity region 857 883 N/A INTRINSIC
low complexity region 941 953 N/A INTRINSIC
low complexity region 962 971 N/A INTRINSIC
low complexity region 1027 1044 N/A INTRINSIC
internal_repeat_1 1048 1064 2e-5 PROSPERO
internal_repeat_1 1059 1075 2e-5 PROSPERO
low complexity region 1146 1168 N/A INTRINSIC
low complexity region 1249 1268 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 90,053,093 V14M possibly damaging Het
Adgrg6 C A 10: 14,450,578 probably null Het
Ankmy1 A G 1: 92,886,266 L397P probably damaging Het
Atp6v1c1 A G 15: 38,686,856 K232E probably damaging Het
Cnfn G T 7: 25,367,960 probably benign Het
Copb2 A G 9: 98,570,318 T52A probably benign Het
Daw1 A C 1: 83,197,236 L152F probably damaging Het
Gpr87 A T 3: 59,179,790 I98K probably damaging Het
Il17a G A 1: 20,732,283 R72H probably damaging Het
Lmtk2 A G 5: 144,174,694 Q744R probably benign Het
Micall1 G A 15: 79,115,021 probably benign Het
Micall2 T C 5: 139,716,328 T387A probably benign Het
Nckap1 T A 2: 80,506,202 I1057F possibly damaging Het
Nr1h3 T C 2: 91,190,199 D263G probably damaging Het
Nrip1 A T 16: 76,293,703 V322E possibly damaging Het
Pck1 T C 2: 173,154,118 probably null Het
Ppp3r2 A G 4: 49,681,773 I59T possibly damaging Het
Pradc1 A G 6: 85,447,966 probably null Het
Psmd14 A G 2: 61,760,682 Y32C probably damaging Het
Rrp12 A C 19: 41,878,027 probably null Het
Selenoo A G 15: 89,095,672 D341G probably damaging Het
Slc1a6 C A 10: 78,793,308 N186K probably damaging Het
Smarcc2 T A 10: 128,463,055 S102R probably damaging Het
Stambpl1 T A 19: 34,240,030 V423E probably damaging Het
Svep1 A C 4: 58,069,001 C2928W possibly damaging Het
Tmed9 T C 13: 55,593,521 Y43H probably benign Het
Ttn T C 2: 76,740,747 T24855A possibly damaging Het
Usp7 A G 16: 8,695,113 V795A probably damaging Het
Wdr17 A C 8: 54,659,579 probably benign Het
Other mutations in Scaf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00956:Scaf8 APN 17 3171147 missense unknown
IGL01610:Scaf8 APN 17 3195849 missense probably damaging 1.00
IGL01967:Scaf8 APN 17 3196938 missense possibly damaging 0.91
IGL02005:Scaf8 APN 17 3185870 missense probably damaging 1.00
IGL03037:Scaf8 APN 17 3190221 missense probably damaging 0.99
R0320:Scaf8 UTSW 17 3178255 missense unknown
R0789:Scaf8 UTSW 17 3196837 missense possibly damaging 0.94
R0850:Scaf8 UTSW 17 3195774 splice site probably null
R0919:Scaf8 UTSW 17 3197120 missense probably damaging 1.00
R1488:Scaf8 UTSW 17 3197597 missense probably damaging 0.97
R1544:Scaf8 UTSW 17 3145154 missense probably damaging 0.96
R1928:Scaf8 UTSW 17 3168077 missense unknown
R1972:Scaf8 UTSW 17 3169371 missense unknown
R2156:Scaf8 UTSW 17 3164132 splice site probably null
R2164:Scaf8 UTSW 17 3197210 missense probably damaging 1.00
R2680:Scaf8 UTSW 17 3197591 missense possibly damaging 0.95
R3794:Scaf8 UTSW 17 3190249 missense probably damaging 1.00
R4368:Scaf8 UTSW 17 3171195 missense unknown
R4673:Scaf8 UTSW 17 3197985 missense probably benign 0.04
R4694:Scaf8 UTSW 17 3197404 missense probably damaging 1.00
R4716:Scaf8 UTSW 17 3177123 missense unknown
R4852:Scaf8 UTSW 17 3178219 missense unknown
R5036:Scaf8 UTSW 17 3164262 unclassified probably benign
R5193:Scaf8 UTSW 17 3190165 missense probably benign 0.02
R5429:Scaf8 UTSW 17 3197110 missense probably benign 0.14
R5816:Scaf8 UTSW 17 3177713 missense unknown
R6050:Scaf8 UTSW 17 3168108 missense unknown
R6493:Scaf8 UTSW 17 3171119 missense unknown
R6616:Scaf8 UTSW 17 3168055 missense unknown
R7065:Scaf8 UTSW 17 3159211 missense probably damaging 1.00
R7112:Scaf8 UTSW 17 3163029 missense unknown
R7141:Scaf8 UTSW 17 3159182 missense unknown
R7198:Scaf8 UTSW 17 3163098 missense unknown
R7265:Scaf8 UTSW 17 3177625 missense unknown
Z1088:Scaf8 UTSW 17 3162983 unclassified probably benign
Posted On2012-04-20