Incidental Mutation 'R8768:Scaf8'
ID 664260
Institutional Source Beutler Lab
Gene Symbol Scaf8
Ensembl Gene ENSMUSG00000046201
Gene Name SR-related CTD-associated factor 8
Synonyms Rbm16, A630086M08Rik, A930036P18Rik
MMRRC Submission 068623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R8768 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 3165247-3249134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3243349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 711 (V711A)
Ref Sequence ENSEMBL: ENSMUSP00000076024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076734]
AlphaFold Q6DID3
Predicted Effect probably benign
Transcript: ENSMUST00000076734
AA Change: V711A

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: V711A

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
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,740,588 (GRCm39) C222S probably benign Het
Actrt3 T G 3: 30,651,992 (GRCm39) R367S probably damaging Het
Alg1 T C 16: 5,060,416 (GRCm39) V379A probably damaging Het
Ankrd36 A G 11: 5,593,763 (GRCm39) E456G probably benign Het
Arhgef33 G T 17: 80,681,148 (GRCm39) A763S possibly damaging Het
Armc5 T G 7: 127,841,783 (GRCm39) V597G probably benign Het
Asb10 G T 5: 24,738,690 (GRCm39) R456S probably damaging Het
Asph A G 4: 9,453,417 (GRCm39) F702L probably damaging Het
Atf7 T A 15: 102,449,324 (GRCm39) T326S probably benign Het
Atxn7l2 T C 3: 108,114,250 (GRCm39) N171D probably benign Het
BC049715 T A 6: 136,816,979 (GRCm39) M73K possibly damaging Het
C2cd6 A G 1: 59,105,312 (GRCm39) V322A probably benign Het
Cadps2 A C 6: 23,382,938 (GRCm39) C807W probably damaging Het
Ccdc57 C T 11: 120,788,788 (GRCm39) R353H probably benign Het
Ccdc89 T C 7: 90,075,793 (GRCm39) M1T probably null Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Csmd3 T A 15: 47,561,572 (GRCm39) I1335F Het
Dap3 A G 3: 88,834,334 (GRCm39) M294T probably damaging Het
Dbh A G 2: 27,060,328 (GRCm39) D168G probably benign Het
Dchs2 C A 3: 83,253,592 (GRCm39) A2334E probably benign Het
Dcun1d4 T A 5: 73,678,310 (GRCm39) Y102N probably benign Het
Dhtkd1 T C 2: 5,903,533 (GRCm39) T918A probably benign Het
Dmgdh C T 13: 93,825,118 (GRCm39) T147I possibly damaging Het
Dmxl2 T G 9: 54,301,105 (GRCm39) K2335N possibly damaging Het
Efna5 T C 17: 63,188,125 (GRCm39) M1V probably null Het
Fpr-rs3 T C 17: 20,844,944 (GRCm39) N66D probably damaging Het
Gas2l2 C A 11: 83,313,999 (GRCm39) A438S probably benign Het
Hivep3 T C 4: 119,989,521 (GRCm39) S1991P probably damaging Het
Hsp90b1 A T 10: 86,541,169 (GRCm39) probably null Het
Iars1 T A 13: 49,878,102 (GRCm39) N875K probably damaging Het
Jag1 A C 2: 136,943,521 (GRCm39) M225R possibly damaging Het
Jag1 T C 2: 136,932,708 (GRCm39) probably benign Het
Kcnn2 C T 18: 45,692,502 (GRCm39) S26L possibly damaging Het
Kctd2 T C 11: 115,311,279 (GRCm39) S96P probably damaging Het
Klhl25 A G 7: 75,516,359 (GRCm39) N422D probably damaging Het
Lhx8 A T 3: 154,027,886 (GRCm39) V222E possibly damaging Het
Lrig1 A T 6: 94,631,840 (GRCm39) V120D possibly damaging Het
Manba T A 3: 135,256,995 (GRCm39) S553T probably damaging Het
Mllt10 T A 2: 18,167,583 (GRCm39) S503T probably damaging Het
Nxpe4 A G 9: 48,304,050 (GRCm39) N46D probably benign Het
Or1l4b C T 2: 37,037,016 (GRCm39) S264L probably benign Het
Or8b50 A C 9: 38,518,441 (GRCm39) K227Q probably benign Het
Pdzd2 C T 15: 12,437,252 (GRCm39) E450K probably damaging Het
Phrf1 T A 7: 140,838,651 (GRCm39) F615L unknown Het
Plch2 C A 4: 155,083,324 (GRCm39) G538V probably damaging Het
Ppp2r2d T A 7: 138,475,897 (GRCm39) I235N probably damaging Het
Prdm15 A T 16: 97,638,888 (GRCm39) D57E probably benign Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptger4 T A 15: 5,272,138 (GRCm39) R185S probably benign Het
Ptp4a2 T A 4: 129,740,299 (GRCm39) M121K probably damaging Het
Ptpre T G 7: 135,283,306 (GRCm39) F659V possibly damaging Het
Rad54l2 T G 9: 106,596,809 (GRCm39) D199A probably benign Het
Rap1gds1 T C 3: 138,647,521 (GRCm39) M556V probably benign Het
Sesn3 G A 9: 14,225,964 (GRCm39) C233Y probably damaging Het
Slc45a1 T A 4: 150,714,206 (GRCm39) I680F probably damaging Het
Slco1a6 C T 6: 142,078,897 (GRCm39) V133M probably benign Het
Syt6 T C 3: 103,492,850 (GRCm39) L119P probably benign Het
Szt2 A C 4: 118,226,613 (GRCm39) S2974R unknown Het
Taok1 A T 11: 77,444,712 (GRCm39) H454Q probably damaging Het
Tbx10 G A 19: 4,047,303 (GRCm39) V136M probably damaging Het
Tespa1 A G 10: 130,198,027 (GRCm39) T350A probably benign Het
Tnks1bp1 T A 2: 84,900,980 (GRCm39) Y1562* probably null Het
Trank1 T A 9: 111,218,344 (GRCm39) F1908Y probably benign Het
Trav6d-4 A T 14: 52,991,243 (GRCm39) H96L possibly damaging Het
Tspoap1 T C 11: 87,669,197 (GRCm39) I1490T probably benign Het
Ttc21a T C 9: 119,770,286 (GRCm39) F119S probably damaging Het
Ttll3 T G 6: 113,385,949 (GRCm39) M594R probably damaging Het
Ttn T A 2: 76,798,790 (GRCm39) R495* probably null Het
Twf1 A C 15: 94,479,110 (GRCm39) L250V probably damaging Het
Ubr4 A T 4: 139,149,076 (GRCm39) E458D Het
Unc50 T C 1: 37,476,244 (GRCm39) F135L probably benign Het
Vwa3a T A 7: 120,375,299 (GRCm39) I371N probably damaging Het
Zfp180 T C 7: 23,805,161 (GRCm39) S527P probably damaging Het
Zfp512 T A 5: 31,630,882 (GRCm39) I408N probably damaging Het
Zfp57 A G 17: 37,317,077 (GRCm39) T52A probably benign Het
Zranb2 A G 3: 157,247,327 (GRCm39) probably benign 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
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
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'- TGGGTTCCATAACAGCTGGG -3'
(R):5'- GGTTATGCAATGACAACTGAGAC -3'

Sequencing Primer
(F):5'- GCAGAGTGAAAACCCCATCTG -3'
(R):5'- TGCAATGACAACTGAGACTATATATG -3'
Posted On 2021-03-08