Incidental Mutation 'R5377:Scaf11'
ID 425645
Institutional Source Beutler Lab
Gene Symbol Scaf11
Ensembl Gene ENSMUSG00000033228
Gene Name SR-related CTD-associated factor 11
Synonyms 2610510E10Rik, Srsf2ip, SIP1, Sfrs2ip, SRRP129, CASP11, 1110061H03Rik
MMRRC Submission 042845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5377 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 96309580-96358695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96315001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1227 (H1227L)
Ref Sequence ENSEMBL: ENSMUSP00000044898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047835] [ENSMUST00000227069] [ENSMUST00000228535]
AlphaFold E9PZM7
Predicted Effect possibly damaging
Transcript: ENSMUST00000047835
AA Change: H1227L

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: H1227L

DomainStartEndE-ValueType
RING 41 81 1.57e-2 SMART
low complexity region 308 327 N/A INTRINSIC
low complexity region 376 394 N/A INTRINSIC
low complexity region 398 412 N/A INTRINSIC
low complexity region 852 860 N/A INTRINSIC
low complexity region 919 978 N/A INTRINSIC
low complexity region 1089 1108 N/A INTRINSIC
low complexity region 1177 1188 N/A INTRINSIC
low complexity region 1283 1311 N/A INTRINSIC
low complexity region 1346 1359 N/A INTRINSIC
Blast:IG_like 1374 1415 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000227069
AA Change: H1227L

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect unknown
Transcript: ENSMUST00000228072
AA Change: H230L
Predicted Effect probably benign
Transcript: ENSMUST00000228535
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,622,212 (GRCm39) V372F probably benign Het
Adcy10 G A 1: 165,347,464 (GRCm39) C393Y probably damaging Het
Adgrg7 A C 16: 56,550,669 (GRCm39) I681S possibly damaging Het
Akap8l T C 17: 32,540,485 (GRCm39) probably benign Het
Akr1a1 A T 4: 116,497,092 (GRCm39) V156E probably damaging Het
Alk T G 17: 72,202,734 (GRCm39) D1167A probably damaging Het
Ankrd11 T C 8: 123,620,453 (GRCm39) probably null Het
Aspm T A 1: 139,385,221 (GRCm39) N288K probably damaging Het
Aspm A G 1: 139,398,133 (GRCm39) probably null Het
Asxl2 G A 12: 3,524,618 (GRCm39) probably null Het
Atp6v0a1 A G 11: 100,946,413 (GRCm39) H802R probably damaging Het
B4galnt1 A G 10: 127,007,691 (GRCm39) T531A possibly damaging Het
Cecr2 A G 6: 120,733,530 (GRCm39) N506D possibly damaging Het
Crebrf T C 17: 26,978,839 (GRCm39) V509A probably damaging Het
Cyp4f40 A T 17: 32,894,590 (GRCm39) I413F probably null Het
Defb12 C A 8: 19,164,342 (GRCm39) probably null Het
Dnah2 T C 11: 69,312,674 (GRCm39) E4297G probably damaging Het
Dpysl5 A T 5: 30,948,857 (GRCm39) N371Y probably damaging Het
Eef1d G T 15: 75,775,038 (GRCm39) T207N probably benign Het
Esrrb C T 12: 86,565,783 (GRCm39) Q416* probably null Het
Exd2 T C 12: 80,536,222 (GRCm39) L284P probably damaging Het
Fat3 T A 9: 16,287,739 (GRCm39) I595F probably benign Het
Gm9920 A G 15: 54,972,371 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,084 (GRCm39) K783E probably damaging Het
Irs2 A G 8: 11,055,277 (GRCm39) S1052P probably benign Het
Kctd18 T C 1: 58,002,252 (GRCm39) I192V probably benign Het
Lama3 A G 18: 12,586,803 (GRCm39) D722G probably damaging Het
Lepr T C 4: 101,672,216 (GRCm39) V1080A possibly damaging Het
Lpin1 C T 12: 16,613,656 (GRCm39) G504S probably damaging Het
Lrit2 A C 14: 36,791,140 (GRCm39) Q273P possibly damaging Het
Mlkl T A 8: 112,054,569 (GRCm39) E189D probably benign Het
Mttp C T 3: 137,810,790 (GRCm39) R608H probably benign Het
Nav2 T C 7: 49,238,908 (GRCm39) V2011A probably benign Het
Nos2 A T 11: 78,848,317 (GRCm39) I1075F probably benign Het
Npat A G 9: 53,461,336 (GRCm39) probably null Het
Nucks1 T C 1: 131,846,771 (GRCm39) F16L probably damaging Het
Nus1 T C 10: 52,305,309 (GRCm39) S150P possibly damaging Het
Odad1 C T 7: 45,591,506 (GRCm39) R257* probably null Het
Oga A T 19: 45,746,461 (GRCm39) Y779* probably null Het
Or4c123 G T 2: 89,127,506 (GRCm39) T36K probably damaging Het
Or8b35 A T 9: 37,903,908 (GRCm39) Y40F probably benign Het
Pclo A G 5: 14,731,367 (GRCm39) T3290A unknown Het
Pign A T 1: 105,585,537 (GRCm39) F4Y probably benign Het
Rfx4 A G 10: 84,696,406 (GRCm39) N233D possibly damaging Het
Rpgrip1 A T 14: 52,397,652 (GRCm39) M1325L possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec31b G T 19: 44,507,076 (GRCm39) P840T probably damaging Het
Slc16a9 T A 10: 70,118,958 (GRCm39) L426I probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 T C 13: 23,996,575 (GRCm39) S27P probably damaging Het
Tacc1 A G 8: 25,672,299 (GRCm39) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm39) R110C probably damaging Het
Trip12 T C 1: 84,735,152 (GRCm39) Y953C probably damaging Het
Trpm7 C A 2: 126,684,775 (GRCm39) probably null Het
Ush2a G A 1: 188,644,320 (GRCm39) V4561I probably benign Het
Vmn1r192 C T 13: 22,371,801 (GRCm39) V140I probably benign Het
Vmn2r66 A T 7: 84,656,026 (GRCm39) I330N probably damaging Het
Vmn2r99 T C 17: 19,599,531 (GRCm39) V405A probably damaging Het
Wdhd1 A C 14: 47,509,678 (GRCm39) V172G probably benign Het
Zfhx3 C T 8: 109,677,817 (GRCm39) R2956C possibly damaging Het
Zfp446 T C 7: 12,716,178 (GRCm39) L283P possibly damaging Het
Zfp82 T C 7: 29,756,591 (GRCm39) K164E probably damaging Het
Other mutations in Scaf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Scaf11 APN 15 96,316,461 (GRCm39) missense possibly damaging 0.94
IGL01386:Scaf11 APN 15 96,318,361 (GRCm39) missense probably damaging 1.00
IGL01449:Scaf11 APN 15 96,317,007 (GRCm39) missense probably benign 0.04
IGL01547:Scaf11 APN 15 96,316,310 (GRCm39) missense probably benign 0.14
IGL01697:Scaf11 APN 15 96,321,504 (GRCm39) splice site probably benign
IGL01780:Scaf11 APN 15 96,318,725 (GRCm39) missense possibly damaging 0.94
IGL02311:Scaf11 APN 15 96,316,637 (GRCm39) missense probably benign 0.01
IGL02740:Scaf11 APN 15 96,316,883 (GRCm39) missense probably benign 0.01
IGL02805:Scaf11 APN 15 96,318,063 (GRCm39) missense possibly damaging 0.69
IGL03383:Scaf11 APN 15 96,318,064 (GRCm39) splice site probably null
R0173:Scaf11 UTSW 15 96,318,075 (GRCm39) missense probably benign 0.00
R0379:Scaf11 UTSW 15 96,329,697 (GRCm39) missense probably damaging 1.00
R0508:Scaf11 UTSW 15 96,318,368 (GRCm39) missense probably damaging 1.00
R0648:Scaf11 UTSW 15 96,316,339 (GRCm39) missense possibly damaging 0.72
R0653:Scaf11 UTSW 15 96,316,522 (GRCm39) nonsense probably null
R0727:Scaf11 UTSW 15 96,317,324 (GRCm39) missense probably damaging 1.00
R0829:Scaf11 UTSW 15 96,316,570 (GRCm39) missense probably damaging 1.00
R0839:Scaf11 UTSW 15 96,321,434 (GRCm39) missense probably damaging 1.00
R0843:Scaf11 UTSW 15 96,329,706 (GRCm39) missense probably damaging 1.00
R0882:Scaf11 UTSW 15 96,316,176 (GRCm39) missense possibly damaging 0.75
R1994:Scaf11 UTSW 15 96,316,721 (GRCm39) nonsense probably null
R2092:Scaf11 UTSW 15 96,313,708 (GRCm39) missense probably damaging 0.98
R2125:Scaf11 UTSW 15 96,317,196 (GRCm39) missense possibly damaging 0.69
R2200:Scaf11 UTSW 15 96,318,404 (GRCm39) missense probably damaging 1.00
R3409:Scaf11 UTSW 15 96,312,745 (GRCm39) missense probably damaging 1.00
R3751:Scaf11 UTSW 15 96,316,417 (GRCm39) missense probably damaging 0.99
R4308:Scaf11 UTSW 15 96,344,396 (GRCm39) missense probably benign 0.00
R4424:Scaf11 UTSW 15 96,316,309 (GRCm39) missense possibly damaging 0.78
R4519:Scaf11 UTSW 15 96,322,719 (GRCm39) missense probably damaging 1.00
R4646:Scaf11 UTSW 15 96,317,981 (GRCm39) splice site probably null
R4647:Scaf11 UTSW 15 96,317,981 (GRCm39) splice site probably null
R4724:Scaf11 UTSW 15 96,312,729 (GRCm39) missense probably benign 0.40
R4748:Scaf11 UTSW 15 96,318,302 (GRCm39) nonsense probably null
R4926:Scaf11 UTSW 15 96,316,123 (GRCm39) missense possibly damaging 0.87
R4978:Scaf11 UTSW 15 96,313,798 (GRCm39) missense probably damaging 1.00
R5105:Scaf11 UTSW 15 96,318,313 (GRCm39) missense probably damaging 1.00
R5120:Scaf11 UTSW 15 96,317,423 (GRCm39) missense probably benign 0.26
R5277:Scaf11 UTSW 15 96,317,107 (GRCm39) missense probably damaging 1.00
R5394:Scaf11 UTSW 15 96,317,339 (GRCm39) missense probably benign 0.28
R5481:Scaf11 UTSW 15 96,318,498 (GRCm39) missense probably damaging 1.00
R5831:Scaf11 UTSW 15 96,314,962 (GRCm39) missense probably benign 0.14
R5941:Scaf11 UTSW 15 96,318,189 (GRCm39) missense probably damaging 0.99
R6123:Scaf11 UTSW 15 96,318,335 (GRCm39) missense probably benign 0.29
R6166:Scaf11 UTSW 15 96,322,543 (GRCm39) missense probably damaging 1.00
R6504:Scaf11 UTSW 15 96,317,341 (GRCm39) splice site probably null
R6863:Scaf11 UTSW 15 96,317,300 (GRCm39) missense probably damaging 1.00
R7135:Scaf11 UTSW 15 96,318,209 (GRCm39) missense possibly damaging 0.82
R7193:Scaf11 UTSW 15 96,317,042 (GRCm39) missense probably damaging 1.00
R7384:Scaf11 UTSW 15 96,318,268 (GRCm39) missense possibly damaging 0.92
R7790:Scaf11 UTSW 15 96,316,942 (GRCm39) missense possibly damaging 0.60
R8056:Scaf11 UTSW 15 96,312,698 (GRCm39) nonsense probably null
R8104:Scaf11 UTSW 15 96,316,483 (GRCm39) missense probably benign 0.34
R8129:Scaf11 UTSW 15 96,317,350 (GRCm39) missense probably damaging 1.00
R8134:Scaf11 UTSW 15 96,318,592 (GRCm39) missense probably damaging 1.00
R8523:Scaf11 UTSW 15 96,316,988 (GRCm39) missense probably damaging 1.00
R8743:Scaf11 UTSW 15 96,313,669 (GRCm39) missense probably benign 0.16
R8955:Scaf11 UTSW 15 96,318,371 (GRCm39) missense probably damaging 0.98
R8987:Scaf11 UTSW 15 96,316,557 (GRCm39) nonsense probably null
R9118:Scaf11 UTSW 15 96,319,886 (GRCm39) missense probably benign
R9127:Scaf11 UTSW 15 96,312,764 (GRCm39) missense probably benign 0.01
R9534:Scaf11 UTSW 15 96,318,209 (GRCm39) missense possibly damaging 0.84
R9628:Scaf11 UTSW 15 96,317,398 (GRCm39) missense probably benign 0.15
R9630:Scaf11 UTSW 15 96,316,049 (GRCm39) missense probably damaging 1.00
R9688:Scaf11 UTSW 15 96,313,808 (GRCm39) missense probably damaging 1.00
R9689:Scaf11 UTSW 15 96,316,195 (GRCm39) missense probably damaging 1.00
R9746:Scaf11 UTSW 15 96,318,298 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTACCTGCATGAGAGGAAC -3'
(R):5'- TGCTATGTAACCTGGCATTAGTAAC -3'

Sequencing Primer
(F):5'- AAGGGTTCCGCTGCATAT -3'
(R):5'- CCTGGCATTAGTAACTTAGAGAATG -3'
Posted On 2016-08-04