Incidental Mutation 'R0320:Scaf8'
ID 38315
Institutional Source Beutler Lab
Gene Symbol Scaf8
Ensembl Gene ENSMUSG00000046201
Gene Name SR-related CTD-associated factor 8
Synonyms Rbm16, A630086M08Rik, A930036P18Rik
MMRRC Submission 038530-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R0320 (G1)
Quality Score 174
Status Validated
Chromosome 17
Chromosomal Location 3165247-3249134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3228530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 443 (S443P)
Ref Sequence ENSEMBL: ENSMUSP00000076024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076734]
AlphaFold Q6DID3
Predicted Effect unknown
Transcript: ENSMUST00000076734
AA Change: S443P
SMART Domains Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: S443P

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 0.0960 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,571 (GRCm39) T465A probably benign Het
A430110L20Rik T G 1: 181,054,987 (GRCm39) noncoding transcript Het
Aadacl4fm1 A T 4: 144,248,990 (GRCm39) H119L probably damaging Het
Abcb10 C T 8: 124,689,746 (GRCm39) R439Q probably benign Het
Abcb8 T C 5: 24,605,788 (GRCm39) S199P probably damaging Het
Adam8 C A 7: 139,566,355 (GRCm39) C556F probably damaging Het
Akap11 T C 14: 78,750,819 (GRCm39) T523A probably benign Het
Aldh3b1 T C 19: 3,968,999 (GRCm39) probably benign Het
Arhgap30 T A 1: 171,231,372 (GRCm39) W230R possibly damaging Het
Atp8b4 A G 2: 126,301,614 (GRCm39) I82T possibly damaging Het
Bptf A T 11: 106,963,645 (GRCm39) L1850I probably damaging Het
C4b C A 17: 34,952,135 (GRCm39) V1237L probably benign Het
Calu C A 6: 29,374,550 (GRCm39) probably benign Het
Cit C A 5: 116,117,504 (GRCm39) L1227M possibly damaging Het
Col4a1 C T 8: 11,292,782 (GRCm39) probably null Het
Cp T C 3: 20,029,012 (GRCm39) probably benign Het
Cpd T C 11: 76,731,273 (GRCm39) D311G possibly damaging Het
Ctc1 T A 11: 68,924,363 (GRCm39) S972T probably damaging Het
Dnah17 A G 11: 117,943,500 (GRCm39) F3201L possibly damaging Het
Dop1b C A 16: 93,607,035 (GRCm39) R2113S probably benign Het
Dym T A 18: 75,332,333 (GRCm39) D520E probably damaging Het
Eif5a G T 11: 69,808,305 (GRCm39) T64K probably benign Het
Flt3 A T 5: 147,306,389 (GRCm39) probably benign Het
Ints6 A T 14: 62,945,084 (GRCm39) Y415* probably null Het
Itga1 A G 13: 115,114,130 (GRCm39) probably benign Het
Itgae A G 11: 73,021,825 (GRCm39) H902R possibly damaging Het
Itprid1 T C 6: 55,953,432 (GRCm39) I916T probably damaging Het
Kdm5a T C 6: 120,366,581 (GRCm39) I406T probably benign Het
Lmx1a C T 1: 167,618,973 (GRCm39) Q111* probably null Het
Lrrc25 T C 8: 71,070,896 (GRCm39) Y226H probably benign Het
Mcam T A 9: 44,051,483 (GRCm39) N447K possibly damaging Het
Mcm10 A T 2: 5,008,897 (GRCm39) D357E probably benign Het
Nrip1 T C 16: 76,089,251 (GRCm39) T769A probably benign Het
Ofcc1 G C 13: 40,360,172 (GRCm39) Q286E probably benign Het
Or1e23 T G 11: 73,407,750 (GRCm39) I92L probably damaging Het
Or56b35 A T 7: 104,963,861 (GRCm39) I217F probably benign Het
Parp3 T A 9: 106,353,011 (GRCm39) N55I possibly damaging Het
Parp4 T C 14: 56,825,953 (GRCm39) probably null Het
Pilrb1 G A 5: 137,853,260 (GRCm39) T181I probably benign Het
Ppm1n A G 7: 19,012,281 (GRCm39) V317A probably damaging Het
Prdm2 A T 4: 142,905,921 (GRCm39) F55L probably damaging Het
Psd2 C T 18: 36,112,697 (GRCm39) R131C probably damaging Het
Ralgps1 A T 2: 33,031,027 (GRCm39) C570S possibly damaging Het
Setd5 A G 6: 113,088,442 (GRCm39) K190R probably damaging Het
Spsb4 T A 9: 96,878,161 (GRCm39) H54L probably damaging Het
St7l T A 3: 104,778,229 (GRCm39) L122* probably null Het
Stom C T 2: 35,211,646 (GRCm39) R125H probably damaging Het
Tigd4 T A 3: 84,502,481 (GRCm39) V466E probably benign Het
Tmc3 A C 7: 83,257,027 (GRCm39) probably benign Het
Vcl C T 14: 21,035,692 (GRCm39) probably benign Het
Vmn1r168 G A 7: 23,240,767 (GRCm39) R208H probably benign Het
Vmn2r75 C A 7: 85,814,288 (GRCm39) V402L probably benign Het
Vps13b A T 15: 35,674,974 (GRCm39) H1698L probably damaging Het
Wnt16 T G 6: 22,297,992 (GRCm39) V286G possibly damaging Het
Xirp1 C A 9: 119,845,533 (GRCm39) V1117L probably benign Het
Zfp788 C T 7: 41,298,971 (GRCm39) H536Y 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
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
Predicted Primers PCR Primer
(F):5'- TGTGGGCATCTTTAGCATCAGACTG -3'
(R):5'- GAGGACTGTTTTCCGACACTGACTC -3'

Sequencing Primer
(F):5'- GACGAATGCCAAATGCCTTTTTTC -3'
(R):5'- CTAGAGAAGTTTAACACAAGTATGCC -3'
Posted On 2013-05-23