Incidental Mutation 'R0004:Scaf1'
ID32388
Institutional Source Beutler Lab
Gene Symbol Scaf1
Ensembl Gene ENSMUSG00000038406
Gene NameSR-related CTD-associated factor 1
Synonyms
MMRRC Submission 038300-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #R0004 (G1)
Quality Score175
Status Validated (trace)
Chromosome7
Chromosomal Location45002948-45016363 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 45007670 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000085383] [ENSMUST00000211735]
Predicted Effect probably benign
Transcript: ENSMUST00000003284
SMART Domains Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184

DomainStartEndE-ValueType
IRF 1 112 6.92e-50 SMART
IRF-3 195 373 4.87e-73 SMART
Predicted Effect unknown
Transcript: ENSMUST00000085383
AA Change: H595R
SMART Domains Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
AA Change: H595R

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 185 224 N/A INTRINSIC
coiled coil region 269 295 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
low complexity region 382 396 N/A INTRINSIC
low complexity region 411 435 N/A INTRINSIC
low complexity region 488 511 N/A INTRINSIC
low complexity region 534 618 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
low complexity region 703 726 N/A INTRINSIC
low complexity region 730 739 N/A INTRINSIC
low complexity region 752 775 N/A INTRINSIC
Blast:IG_like 776 833 6e-6 BLAST
low complexity region 843 873 N/A INTRINSIC
low complexity region 876 888 N/A INTRINSIC
low complexity region 917 937 N/A INTRINSIC
coiled coil region 963 983 N/A INTRINSIC
low complexity region 1025 1037 N/A INTRINSIC
low complexity region 1098 1128 N/A INTRINSIC
low complexity region 1136 1146 N/A INTRINSIC
Blast:IG_like 1151 1194 2e-16 BLAST
low complexity region 1225 1256 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000117282
AA Change: H595R
SMART Domains Protein: ENSMUSP00000114117
Gene: ENSMUSG00000038406
AA Change: H595R

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 185 224 N/A INTRINSIC
coiled coil region 269 295 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
low complexity region 382 396 N/A INTRINSIC
low complexity region 411 435 N/A INTRINSIC
low complexity region 488 511 N/A INTRINSIC
low complexity region 534 618 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
low complexity region 703 726 N/A INTRINSIC
low complexity region 730 739 N/A INTRINSIC
low complexity region 752 775 N/A INTRINSIC
Blast:IG_like 776 833 6e-6 BLAST
low complexity region 843 873 N/A INTRINSIC
low complexity region 876 888 N/A INTRINSIC
low complexity region 917 937 N/A INTRINSIC
coiled coil region 963 983 N/A INTRINSIC
low complexity region 1025 1037 N/A INTRINSIC
low complexity region 1098 1128 N/A INTRINSIC
low complexity region 1136 1146 N/A INTRINSIC
Blast:IG_like 1151 1194 2e-16 BLAST
low complexity region 1225 1256 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148227
AA Change: T1414A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210056
Predicted Effect unknown
Transcript: ENSMUST00000211735
AA Change: H595R
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal T C 2: 121,152,485 I86T probably damaging Het
Aff3 T C 1: 38,269,726 D376G possibly damaging Het
Akap11 A T 14: 78,514,940 H164Q possibly damaging Het
Akap12 A T 10: 4,353,220 D10V probably damaging Het
Arhgap32 T C 9: 32,151,998 V101A probably damaging Het
Atm A T 9: 53,453,528 probably benign Het
Ccdc18 A G 5: 108,161,700 D387G possibly damaging Het
Ccdc38 A T 10: 93,574,102 Q261L probably damaging Het
Cd180 T G 13: 102,702,708 V33G probably benign Het
Cd207 G A 6: 83,674,248 Q242* probably null Het
Cnp T C 11: 100,576,807 F192S probably damaging Het
Colec10 G T 15: 54,410,875 R33L possibly damaging Het
Csn1s1 A T 5: 87,671,531 M16L probably benign Het
Dnah10 A T 5: 124,726,902 M98L probably benign Het
Dnah17 T C 11: 118,060,092 I2902V possibly damaging Het
Dtnb A G 12: 3,596,635 probably benign Het
Epha5 T C 5: 84,331,842 Y101C probably damaging Het
Ephb2 T A 4: 136,657,524 M860L probably damaging Het
Fbxw18 T C 9: 109,701,313 T77A probably damaging Het
Fgfbp3 A G 19: 36,918,682 S179P possibly damaging Het
Foxp2 A G 6: 15,197,096 T45A possibly damaging Het
Gckr A T 5: 31,297,589 probably benign Het
Glce T A 9: 62,068,579 Q213L probably damaging Het
Gm1965 A C 6: 89,146,487 H84P unknown Het
Hbegf A G 18: 36,507,506 V166A probably damaging Het
Helb G T 10: 120,108,981 H217N probably damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Kansl2 A G 15: 98,520,376 L392P probably damaging Het
Klra1 A T 6: 130,372,873 Y201N probably damaging Het
Klra3 A G 6: 130,323,687 S240P probably damaging Het
Liph T A 16: 21,984,194 R42* probably null Het
Lrp1 A T 10: 127,541,825 probably null Het
Luc7l2 A T 6: 38,589,234 K52M probably damaging Het
Mecom G A 3: 29,979,911 P215S probably damaging Het
Myo1g T A 11: 6,515,901 T395S probably damaging Het
Ndst4 T A 3: 125,570,826 M384K probably benign Het
Ndufb2 C T 6: 39,596,504 T51I possibly damaging Het
Nell1 C A 7: 50,560,759 probably benign Het
Olfr639 A T 7: 104,012,431 N90K probably benign Het
Oxr1 G A 15: 41,820,540 S434N possibly damaging Het
Pcdhac2 T A 18: 37,145,237 S423R probably benign Het
Pcdhb10 T A 18: 37,411,959 D29E probably benign Het
Pde10a A G 17: 8,981,576 T1053A probably benign Het
Pkdrej T A 15: 85,818,183 H1184L probably damaging Het
Prkaa2 C T 4: 105,047,091 R263Q probably null Het
Prmt9 A G 8: 77,555,782 I103V possibly damaging Het
Rbm15b T C 9: 106,884,936 T678A probably benign Het
Ryr2 T C 13: 11,665,919 Y3180C probably benign Het
Scn7a T A 2: 66,687,795 N1024I possibly damaging Het
Sec23b T C 2: 144,564,562 probably benign Het
Sf1 C A 19: 6,374,191 P417Q probably damaging Het
Slc4a3 A T 1: 75,557,009 probably benign Het
Stk32a T C 18: 43,305,056 W207R probably damaging Het
Syne1 A T 10: 5,443,132 probably benign Het
Tecta A T 9: 42,345,478 V1634E possibly damaging Het
Tenm2 A G 11: 36,023,357 F2450S probably damaging Het
Tgfb1 T C 7: 25,692,366 probably benign Het
Tpgs2 A G 18: 25,158,238 probably benign Het
Washc5 A G 15: 59,367,467 M149T probably damaging Het
Wrn A T 8: 33,317,560 V290D probably damaging Het
Zbtb41 A G 1: 139,442,888 T688A possibly damaging Het
Zfp560 C T 9: 20,347,967 C533Y probably damaging Het
Zfp791 G A 8: 85,110,866 A123V probably benign Het
Other mutations in Scaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Scaf1 APN 7 45013510 missense probably damaging 1.00
IGL02644:Scaf1 APN 7 45005933 splice site probably benign
IGL02660:Scaf1 APN 7 45012118 splice site probably benign
R0326:Scaf1 UTSW 7 45008751 missense probably damaging 1.00
R1395:Scaf1 UTSW 7 45008297 missense probably damaging 0.99
R1799:Scaf1 UTSW 7 45008019 missense probably damaging 0.97
R3037:Scaf1 UTSW 7 45007347 unclassified probably benign
R4044:Scaf1 UTSW 7 45006374 unclassified probably benign
R4808:Scaf1 UTSW 7 45008639 missense probably damaging 0.99
R4871:Scaf1 UTSW 7 45005879 unclassified probably benign
R4905:Scaf1 UTSW 7 45012705 missense probably damaging 1.00
R5214:Scaf1 UTSW 7 45003238 unclassified probably benign
R5602:Scaf1 UTSW 7 45007583 unclassified probably benign
R5748:Scaf1 UTSW 7 45012806 splice site probably null
R5907:Scaf1 UTSW 7 45013592 splice site probably benign
R6193:Scaf1 UTSW 7 45006780 unclassified probably benign
R6207:Scaf1 UTSW 7 45007623 unclassified probably benign
R6948:Scaf1 UTSW 7 45013547 nonsense probably null
R6969:Scaf1 UTSW 7 45007829 unclassified probably benign
R7039:Scaf1 UTSW 7 45008426 missense probably damaging 1.00
R7179:Scaf1 UTSW 7 45007743 missense unknown
R7356:Scaf1 UTSW 7 45007784 missense unknown
R7480:Scaf1 UTSW 7 45007649 missense unknown
R7632:Scaf1 UTSW 7 45007079 missense unknown
R7971:Scaf1 UTSW 7 45003541 missense unknown
X0020:Scaf1 UTSW 7 45005529 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGGTCCGTTTGATGGCGAACAG -3'
(R):5'- GGGAAGCTAAGAAGCACCGTTCAC -3'

Sequencing Primer
(F):5'- TGATGGCGAACAGGTCGTG -3'
(R):5'- AGCTTGGTTCACACTCCACG -3'
Posted On2013-05-09