Incidental Mutation 'IGL02805:Scaf11'
ID 360379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scaf11
Ensembl Gene ENSMUSG00000033228
Gene Name SR-related CTD-associated factor 11
Synonyms 2610510E10Rik, Srsf2ip, SIP1, Sfrs2ip, SRRP129, CASP11, 1110061H03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02805
Quality Score
Status
Chromosome 15
Chromosomal Location 96309580-96358695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96318063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 500 (D500E)
Ref Sequence ENSEMBL: ENSMUSP00000154321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047835] [ENSMUST00000227069] [ENSMUST00000228535]
AlphaFold E9PZM7
Predicted Effect probably benign
Transcript: ENSMUST00000047835
AA Change: D500E

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: D500E

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 possibly damaging
Transcript: ENSMUST00000227069
AA Change: D500E

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000228072
Predicted Effect probably benign
Transcript: ENSMUST00000228260
Predicted Effect probably benign
Transcript: ENSMUST00000228535
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign 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
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
R5377:Scaf11 UTSW 15 96,315,001 (GRCm39) missense possibly damaging 0.55
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
Posted On 2015-12-18