Incidental Mutation 'R8118:Scaf8'
ID 631368
Institutional Source Beutler Lab
Gene Symbol Scaf8
Ensembl Gene ENSMUSG00000046201
Gene Name SR-related CTD-associated factor 8
Synonyms Rbm16, A630086M08Rik, A930036P18Rik
MMRRC Submission 067547-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R8118 (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 A at 3214458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 171 (V171D)
Ref Sequence ENSEMBL: ENSMUSP00000076024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076734] [ENSMUST00000232048]
AlphaFold Q6DID3
Predicted Effect unknown
Transcript: ENSMUST00000076734
AA Change: V171D
SMART Domains Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: V171D

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 probably benign
Transcript: ENSMUST00000232048
Meta Mutation Damage Score 0.0641 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.2%
  • 20x: 91.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 T C 16: 85,592,821 (GRCm39) D792G probably damaging Het
Adcy7 A G 8: 89,042,384 (GRCm39) H417R probably damaging Het
Agr2 A G 12: 36,046,106 (GRCm39) D79G probably benign Het
Ankle1 T C 8: 71,860,279 (GRCm39) S286P probably benign Het
Arhgef11 T C 3: 87,643,164 (GRCm39) S1488P probably damaging Het
Atp6v0a2 T C 5: 124,789,837 (GRCm39) M421T probably damaging Het
Cdk17 C A 10: 93,052,252 (GRCm39) Q111K possibly damaging Het
Cimap2 T A 4: 106,470,595 (GRCm39) R192S possibly damaging Het
Cobl A G 11: 12,204,834 (GRCm39) S623P probably benign Het
Dgka C T 10: 128,558,318 (GRCm39) probably null Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Dsg2 A G 18: 20,715,858 (GRCm39) I267V probably benign Het
Exoc4 T C 6: 33,948,853 (GRCm39) Y899H probably damaging Het
Fat3 A G 9: 15,871,400 (GRCm39) F3664L probably benign Het
Fbxo47 C T 11: 97,770,341 (GRCm39) C17Y probably benign Het
Gm2888 G T 14: 3,037,628 (GRCm38) V207F probably benign Het
Gpr61 A G 3: 108,057,888 (GRCm39) S258P probably damaging Het
H2-T9 C T 17: 36,438,582 (GRCm39) V270M probably damaging Het
Hectd4 C T 5: 121,424,439 (GRCm39) H700Y probably benign Het
Hs3st2 C T 7: 120,996,651 (GRCm39) T154I probably benign Het
Inf2 A T 12: 112,567,871 (GRCm39) H167L probably damaging Het
Ints3 C T 3: 90,307,606 (GRCm39) probably null Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Itgal C A 7: 126,910,417 (GRCm39) Q509K probably benign Het
Klhl20 A T 1: 160,925,971 (GRCm39) probably null Het
Krtap4-13 C T 11: 99,700,224 (GRCm39) C145Y unknown Het
Large1 A G 8: 73,858,572 (GRCm39) S99P probably benign Het
Lrba A T 3: 86,261,533 (GRCm39) I1496L probably benign Het
Map2 A T 1: 66,464,550 (GRCm39) I1647F probably damaging Het
Map3k10 A G 7: 27,372,842 (GRCm39) V203A possibly damaging Het
Mcmdc2 T A 1: 9,986,599 (GRCm39) N166K possibly damaging Het
Mlxipl T G 5: 135,166,102 (GRCm39) L828R possibly damaging Het
Mnat1 A G 12: 73,265,864 (GRCm39) I253V probably benign Het
Mtfp1 A G 11: 4,043,910 (GRCm39) S107P probably damaging Het
Nebl T A 2: 17,384,631 (GRCm39) Y65F possibly damaging Het
Nelfb A T 2: 25,095,171 (GRCm39) D339E possibly damaging Het
Nlrc3 T A 16: 3,783,495 (GRCm39) I20L probably benign Het
Nup205 T A 6: 35,207,451 (GRCm39) M1501K probably benign Het
Or14a258 A T 7: 86,034,976 (GRCm39) C297* probably null Het
Or1ad8 A G 11: 50,898,327 (GRCm39) H176R probably damaging Het
Or2t6 A G 14: 14,175,863 (GRCm38) I73T probably damaging Het
Or4k15b T C 14: 50,272,608 (GRCm39) D84G probably benign Het
Or5b123 T A 19: 13,597,109 (GRCm39) N151K probably damaging Het
Or5g29 T A 2: 85,421,332 (GRCm39) Y149* probably null Het
Palm3 A G 8: 84,756,438 (GRCm39) E650G probably damaging Het
Prps1l1 C A 12: 35,035,340 (GRCm39) L152M probably damaging Het
Rgs7bp C A 13: 105,189,629 (GRCm39) V57F probably damaging Het
Sf3a2 T C 10: 80,639,474 (GRCm39) Y155H probably damaging Het
Sfrp1 T G 8: 23,902,000 (GRCm39) L67R probably damaging Het
Shank2 A T 7: 143,963,612 (GRCm39) I407L probably benign Het
Skint6 T C 4: 112,722,872 (GRCm39) T902A possibly damaging Het
Skint6 A C 4: 113,013,691 (GRCm39) S353R possibly damaging Het
Srrm2 T A 17: 24,027,057 (GRCm39) I87N unknown Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Svs3b A G 2: 164,097,926 (GRCm39) S132P probably damaging Het
Tbc1d17 G T 7: 44,492,426 (GRCm39) F412L probably benign Het
Tex29 A T 8: 11,904,263 (GRCm39) E116D unknown Het
Tmem204 T C 17: 25,299,312 (GRCm39) D69G possibly damaging Het
Ttll10 G A 4: 156,129,219 (GRCm39) R308C probably benign Het
Ttn T A 2: 76,577,508 (GRCm39) I24462F probably damaging Het
Tubg2 A G 11: 101,052,304 (GRCm39) E411G probably damaging Het
Ugt2b38 T C 5: 87,571,630 (GRCm39) N134S probably damaging Het
Usp31 T C 7: 121,276,485 (GRCm39) T351A probably damaging Het
Usp33 T C 3: 152,065,996 (GRCm39) L92S probably damaging Het
Vmn2r20 A T 6: 123,373,429 (GRCm39) I471N probably damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Wnk2 A G 13: 49,244,459 (GRCm39) V459A 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
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
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'- CTAACTACATAAAGGCTGTAAGTCG -3'
(R):5'- CAGTGCTCCCATGTTGACAG -3'

Sequencing Primer
(F):5'- AAGTCGTTTTCAAGATGGAGGC -3'
(R):5'- TGCTCCCATGTTGACAGAAAAG -3'
Posted On 2020-06-30