Incidental Mutation 'R6050:Scaf8'
ID 483519
Institutional Source Beutler Lab
Gene Symbol Scaf8
Ensembl Gene ENSMUSG00000046201
Gene Name SR-related CTD-associated factor 8
Synonyms Rbm16, A630086M08Rik, A930036P18Rik
MMRRC Submission 044218-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R6050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 3165247-3249134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3218383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 251 (T251M)
Ref Sequence ENSEMBL: ENSMUSP00000076024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076734]
AlphaFold Q6DID3
Predicted Effect unknown
Transcript: ENSMUST00000076734
AA Change: T251M
SMART Domains Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: T251M

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ahdc1 A G 4: 132,793,202 (GRCm39) D1481G possibly damaging Het
Ak9 A G 10: 41,265,108 (GRCm39) E955G possibly damaging Het
Aox3 T C 1: 58,219,814 (GRCm39) F1138S possibly damaging Het
Bbs2 T A 8: 94,819,160 (GRCm39) N70Y probably damaging Het
BC048679 T C 7: 81,145,339 (GRCm39) I70V possibly damaging Het
Catspere2 G A 1: 177,931,490 (GRCm39) A470T unknown Het
Ccdc141 G T 2: 76,842,075 (GRCm39) A1452E probably benign Het
Celsr1 T C 15: 85,814,812 (GRCm39) D1883G probably benign Het
Clhc1 A G 11: 29,511,397 (GRCm39) I280M possibly damaging Het
Cmtr1 G T 17: 29,901,108 (GRCm39) K678N probably damaging Het
Daam2 T C 17: 49,793,530 (GRCm39) D329G possibly damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Fcf1 G A 12: 85,029,017 (GRCm39) C154Y probably damaging Het
Frem2 T C 3: 53,560,433 (GRCm39) N1358S probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtf3c3 T C 1: 54,445,229 (GRCm39) I608M probably benign Het
Gzf1 G A 2: 148,526,158 (GRCm39) D210N possibly damaging Het
Ift140 C T 17: 25,309,979 (GRCm39) R1129C probably damaging Het
Lias A G 5: 65,551,315 (GRCm39) I83V possibly damaging Het
Mlh3 T C 12: 85,287,620 (GRCm39) T1342A possibly damaging Het
Mn1 A G 5: 111,567,263 (GRCm39) Y411C probably damaging Het
Mrps21 C T 3: 95,770,200 (GRCm39) R43H probably benign Het
Ncam2 C T 16: 81,240,054 (GRCm39) Q172* probably null Het
Notch3 T C 17: 32,362,501 (GRCm39) T1375A probably benign Het
Oga A C 19: 45,753,919 (GRCm39) S652A possibly damaging Het
Ovol3 T A 7: 29,933,819 (GRCm39) Y101F probably benign Het
Pcbp4 T C 9: 106,339,422 (GRCm39) V45A probably benign Het
Plec T C 15: 76,072,458 (GRCm39) E709G probably damaging Het
Prcc G A 3: 87,777,191 (GRCm39) T261I probably damaging Het
Psg25 A G 7: 18,260,403 (GRCm39) V165A probably benign Het
Rfk C T 19: 17,376,896 (GRCm39) P133S probably benign Het
Sec14l2 T C 11: 4,061,477 (GRCm39) D67G probably benign Het
Smtnl1 A G 2: 84,641,797 (GRCm39) I441T probably damaging Het
Tbce C T 13: 14,173,019 (GRCm39) V471I possibly damaging Het
Tnip1 G A 11: 54,808,703 (GRCm39) R495C probably damaging Het
Trbv19 A G 6: 41,155,944 (GRCm39) K105R probably benign Het
Ttc5 T A 14: 51,010,744 (GRCm39) N229I probably damaging Het
Ush2a T C 1: 188,689,521 (GRCm39) F5028L probably benign Het
Vmn2r24 T C 6: 123,792,691 (GRCm39) S673P probably damaging Het
Zfp780b A T 7: 27,663,727 (GRCm39) I276N 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
IGL01967:Scaf8 APN 17 3,247,213 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- ACCGAGTACTGACCCAAAATTATG -3'
(R):5'- CGGGACAACTATGATGAGGCTATC -3'

Sequencing Primer
(F):5'- AGAAGCCTCAGCCTTCTA -3'
(R):5'- CAACTATGATGAGGCTATCTTTCTC -3'
Posted On 2017-07-14