Incidental Mutation 'IGL01967:Scaf8'
ID 181559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaf8
Ensembl Gene ENSMUSG00000046201
Gene Name SR-related CTD-associated factor 8
Synonyms Rbm16, A630086M08Rik, A930036P18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # IGL01967
Quality Score
Status
Chromosome 17
Chromosomal Location 3165247-3249134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3247213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 845 (N845K)
Ref Sequence ENSEMBL: ENSMUSP00000076024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076734]
AlphaFold Q6DID3
Predicted Effect possibly damaging
Transcript: ENSMUST00000076734
AA Change: N845K

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: N845K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231685
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,831,707 (GRCm39) L1215P probably damaging Het
Abce1 T C 8: 80,412,620 (GRCm39) D569G probably damaging Het
Adnp A G 2: 168,025,339 (GRCm39) V652A possibly damaging Het
Bco2 A G 9: 50,446,809 (GRCm39) I448T probably damaging Het
Cdh20 T A 1: 104,868,762 (GRCm39) H84Q probably damaging Het
Cep126 A G 9: 8,095,209 (GRCm39) probably null Het
Clca4b A G 3: 144,633,951 (GRCm39) probably benign Het
Fat2 T A 11: 55,202,649 (GRCm39) N142Y probably damaging Het
Gnaq C T 19: 16,355,524 (GRCm39) R247C probably damaging Het
Itprid1 A T 6: 55,874,896 (GRCm39) E282V probably damaging Het
Klf3 T C 5: 64,979,430 (GRCm39) S91P probably damaging Het
Lmtk2 C A 5: 144,119,597 (GRCm39) H1353N probably benign Het
Magi1 G T 6: 93,685,115 (GRCm39) H526Q probably damaging Het
Mecr A G 4: 131,589,192 (GRCm39) probably null Het
Mllt6 T C 11: 97,565,603 (GRCm39) F630L probably damaging Het
Nav1 T C 1: 135,464,983 (GRCm39) N274S probably damaging Het
Nmi T C 2: 51,846,052 (GRCm39) probably null Het
Or7e170 A G 9: 19,794,885 (GRCm39) S239P probably damaging Het
Perm1 G T 4: 156,302,118 (GRCm39) G221W probably damaging Het
Pikfyve T A 1: 65,303,524 (GRCm39) N1681K possibly damaging Het
Ptch2 T C 4: 116,971,430 (GRCm39) probably benign Het
Sc5d A T 9: 42,169,930 (GRCm39) L97Q possibly damaging Het
Sema7a A G 9: 57,863,678 (GRCm39) K284E probably damaging Het
Slc16a3 G A 11: 120,847,864 (GRCm39) V351M probably damaging Het
Strn3 A G 12: 51,699,596 (GRCm39) I192T probably damaging Het
Syne2 A C 12: 75,988,077 (GRCm39) D1745A probably damaging Het
Ttc13 T C 8: 125,439,386 (GRCm39) T123A probably damaging Het
Zbtb18 T A 1: 177,275,348 (GRCm39) V236D probably benign Het
Zfp438 T C 18: 5,214,049 (GRCm39) E303G probably benign Het
Zfp644 T C 5: 106,786,109 (GRCm39) Q146R probably damaging Het
Zfp972 A T 2: 177,563,495 (GRCm39) N38K probably damaging Het
Other mutations in Scaf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Scaf8 APN 17 3,221,409 (GRCm39) missense unknown
IGL00956:Scaf8 APN 17 3,221,422 (GRCm39) missense unknown
IGL01610:Scaf8 APN 17 3,246,124 (GRCm39) missense probably damaging 1.00
IGL02005:Scaf8 APN 17 3,236,145 (GRCm39) missense probably damaging 1.00
IGL03037:Scaf8 APN 17 3,240,496 (GRCm39) missense probably damaging 0.99
BB004:Scaf8 UTSW 17 3,209,495 (GRCm39) missense unknown
BB014:Scaf8 UTSW 17 3,209,495 (GRCm39) missense unknown
R0320:Scaf8 UTSW 17 3,228,530 (GRCm39) missense unknown
R0789:Scaf8 UTSW 17 3,247,112 (GRCm39) missense possibly damaging 0.94
R0850:Scaf8 UTSW 17 3,246,049 (GRCm39) splice site probably null
R0919:Scaf8 UTSW 17 3,247,395 (GRCm39) missense probably damaging 1.00
R1488:Scaf8 UTSW 17 3,247,872 (GRCm39) missense probably damaging 0.97
R1544:Scaf8 UTSW 17 3,195,429 (GRCm39) missense probably damaging 0.96
R1928:Scaf8 UTSW 17 3,218,352 (GRCm39) missense unknown
R1972:Scaf8 UTSW 17 3,219,646 (GRCm39) missense unknown
R2156:Scaf8 UTSW 17 3,214,407 (GRCm39) splice site probably null
R2164:Scaf8 UTSW 17 3,247,485 (GRCm39) missense probably damaging 1.00
R2680:Scaf8 UTSW 17 3,247,866 (GRCm39) missense possibly damaging 0.95
R3794:Scaf8 UTSW 17 3,240,524 (GRCm39) missense probably damaging 1.00
R4368:Scaf8 UTSW 17 3,221,470 (GRCm39) missense unknown
R4673:Scaf8 UTSW 17 3,248,260 (GRCm39) missense probably benign 0.04
R4694:Scaf8 UTSW 17 3,247,679 (GRCm39) missense probably damaging 1.00
R4716:Scaf8 UTSW 17 3,227,398 (GRCm39) missense unknown
R4852:Scaf8 UTSW 17 3,228,494 (GRCm39) missense unknown
R5036:Scaf8 UTSW 17 3,214,537 (GRCm39) unclassified probably benign
R5193:Scaf8 UTSW 17 3,240,440 (GRCm39) missense probably benign 0.02
R5429:Scaf8 UTSW 17 3,247,385 (GRCm39) missense probably benign 0.14
R5816:Scaf8 UTSW 17 3,227,988 (GRCm39) missense unknown
R6050:Scaf8 UTSW 17 3,218,383 (GRCm39) missense unknown
R6493:Scaf8 UTSW 17 3,221,394 (GRCm39) missense unknown
R6616:Scaf8 UTSW 17 3,218,330 (GRCm39) missense unknown
R7065:Scaf8 UTSW 17 3,209,486 (GRCm39) missense probably damaging 1.00
R7112:Scaf8 UTSW 17 3,213,304 (GRCm39) missense unknown
R7141:Scaf8 UTSW 17 3,209,457 (GRCm39) missense unknown
R7198:Scaf8 UTSW 17 3,213,373 (GRCm39) missense unknown
R7265:Scaf8 UTSW 17 3,227,900 (GRCm39) missense unknown
R7592:Scaf8 UTSW 17 3,221,497 (GRCm39) critical splice donor site probably null
R7711:Scaf8 UTSW 17 3,237,909 (GRCm39) missense probably damaging 0.97
R7813:Scaf8 UTSW 17 3,247,549 (GRCm39) missense probably damaging 1.00
R7867:Scaf8 UTSW 17 3,227,994 (GRCm39) missense unknown
R7927:Scaf8 UTSW 17 3,209,495 (GRCm39) missense unknown
R7937:Scaf8 UTSW 17 3,247,482 (GRCm39) missense probably damaging 0.99
R7958:Scaf8 UTSW 17 3,221,397 (GRCm39) missense unknown
R7960:Scaf8 UTSW 17 3,221,397 (GRCm39) missense unknown
R8024:Scaf8 UTSW 17 3,209,568 (GRCm39) missense unknown
R8118:Scaf8 UTSW 17 3,214,458 (GRCm39) missense unknown
R8285:Scaf8 UTSW 17 3,227,404 (GRCm39) missense unknown
R8303:Scaf8 UTSW 17 3,198,827 (GRCm39) missense unknown
R8365:Scaf8 UTSW 17 3,246,241 (GRCm39) missense possibly damaging 0.67
R8544:Scaf8 UTSW 17 3,213,295 (GRCm39) unclassified probably benign
R8768:Scaf8 UTSW 17 3,243,349 (GRCm39) missense probably benign 0.27
R9520:Scaf8 UTSW 17 3,248,285 (GRCm39) missense probably damaging 1.00
R9521:Scaf8 UTSW 17 3,248,285 (GRCm39) missense probably damaging 1.00
R9603:Scaf8 UTSW 17 3,246,070 (GRCm39) missense possibly damaging 0.80
R9622:Scaf8 UTSW 17 3,248,170 (GRCm39) missense probably benign 0.21
R9687:Scaf8 UTSW 17 3,221,410 (GRCm39) missense unknown
Z1088:Scaf8 UTSW 17 3,213,258 (GRCm39) unclassified probably benign
Z1177:Scaf8 UTSW 17 3,213,269 (GRCm39) missense unknown
Posted On 2014-05-07