Incidental Mutation 'IGL02076:Stil'
ID 185987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stil
Ensembl Gene ENSMUSG00000028718
Gene Name Scl/Tal1 interrupting locus
Synonyms Sil
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02076
Quality Score
Status
Chromosome 4
Chromosomal Location 114857356-114900393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114880834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 459 (H459Q)
Ref Sequence ENSEMBL: ENSMUSP00000030490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030490] [ENSMUST00000129957] [ENSMUST00000141933]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030490
AA Change: H459Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: H459Q

DomainStartEndE-ValueType
Pfam:STIL_N 22 426 5.1e-199 PFAM
low complexity region 709 724 N/A INTRINSIC
low complexity region 1106 1118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129957
SMART Domains Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718

DomainStartEndE-ValueType
Pfam:STIL_N 22 416 1.5e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130401
Predicted Effect probably benign
Transcript: ENSMUST00000141933
SMART Domains Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718

DomainStartEndE-ValueType
Pfam:STIL_N 22 392 6.6e-166 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144316
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a centrosomal protein ubiquitously expressed in proliferating cells and during early embryonic development. Mice lacking the encoded protein die in utero with marked growth retardation, defects in the developing neural fold and randomization of left-right asymmetry. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos with various neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Stil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Stil APN 4 114,881,309 (GRCm39) missense probably benign 0.29
IGL01672:Stil APN 4 114,889,986 (GRCm39) missense probably damaging 1.00
IGL02058:Stil APN 4 114,871,359 (GRCm39) missense probably benign 0.00
IGL02104:Stil APN 4 114,898,679 (GRCm39) missense probably damaging 1.00
IGL02355:Stil APN 4 114,867,308 (GRCm39) missense probably damaging 1.00
IGL02362:Stil APN 4 114,867,308 (GRCm39) missense probably damaging 1.00
IGL02612:Stil APN 4 114,880,893 (GRCm39) missense possibly damaging 0.80
IGL02695:Stil APN 4 114,873,372 (GRCm39) missense probably damaging 1.00
IGL02696:Stil APN 4 114,898,692 (GRCm39) missense probably damaging 0.99
IGL02826:Stil APN 4 114,881,295 (GRCm39) missense probably benign 0.01
IGL02946:Stil APN 4 114,887,110 (GRCm39) missense probably benign 0.05
IGL03146:Stil APN 4 114,881,612 (GRCm39) missense probably damaging 1.00
BB005:Stil UTSW 4 114,887,198 (GRCm39) missense probably damaging 0.98
BB015:Stil UTSW 4 114,887,198 (GRCm39) missense probably damaging 0.98
R0058:Stil UTSW 4 114,898,495 (GRCm39) missense probably damaging 1.00
R0256:Stil UTSW 4 114,880,882 (GRCm39) missense possibly damaging 0.80
R0324:Stil UTSW 4 114,896,346 (GRCm39) missense probably benign 0.01
R0391:Stil UTSW 4 114,898,369 (GRCm39) critical splice acceptor site probably null
R0602:Stil UTSW 4 114,881,620 (GRCm39) splice site probably benign
R0620:Stil UTSW 4 114,864,356 (GRCm39) missense possibly damaging 0.52
R1452:Stil UTSW 4 114,896,392 (GRCm39) missense probably benign 0.00
R1462:Stil UTSW 4 114,881,161 (GRCm39) missense probably benign 0.00
R1462:Stil UTSW 4 114,881,161 (GRCm39) missense probably benign 0.00
R1544:Stil UTSW 4 114,881,049 (GRCm39) missense probably damaging 0.97
R1789:Stil UTSW 4 114,898,979 (GRCm39) missense probably benign 0.01
R1878:Stil UTSW 4 114,898,423 (GRCm39) missense probably damaging 1.00
R1895:Stil UTSW 4 114,881,072 (GRCm39) missense probably benign 0.40
R2325:Stil UTSW 4 114,889,904 (GRCm39) missense probably benign 0.12
R2401:Stil UTSW 4 114,873,483 (GRCm39) missense probably null 0.81
R3054:Stil UTSW 4 114,862,163 (GRCm39) missense probably damaging 1.00
R3055:Stil UTSW 4 114,871,266 (GRCm39) splice site probably benign
R4097:Stil UTSW 4 114,880,797 (GRCm39) missense probably benign 0.04
R4330:Stil UTSW 4 114,862,176 (GRCm39) missense probably damaging 1.00
R4418:Stil UTSW 4 114,866,574 (GRCm39) missense probably benign 0.17
R4665:Stil UTSW 4 114,898,841 (GRCm39) missense probably benign 0.00
R4688:Stil UTSW 4 114,898,505 (GRCm39) missense probably damaging 1.00
R4740:Stil UTSW 4 114,863,979 (GRCm39) missense probably benign 0.15
R4860:Stil UTSW 4 114,895,671 (GRCm39) missense probably benign 0.01
R4860:Stil UTSW 4 114,895,671 (GRCm39) missense probably benign 0.01
R4909:Stil UTSW 4 114,881,422 (GRCm39) nonsense probably null
R6130:Stil UTSW 4 114,887,058 (GRCm39) splice site probably null
R6523:Stil UTSW 4 114,889,911 (GRCm39) frame shift probably null
R7294:Stil UTSW 4 114,864,480 (GRCm39) missense probably benign 0.17
R7357:Stil UTSW 4 114,871,423 (GRCm39) critical splice donor site probably null
R7387:Stil UTSW 4 114,881,233 (GRCm39) missense probably benign 0.37
R7592:Stil UTSW 4 114,881,005 (GRCm39) missense probably benign 0.00
R7776:Stil UTSW 4 114,890,035 (GRCm39) missense possibly damaging 0.49
R7908:Stil UTSW 4 114,889,896 (GRCm39) missense possibly damaging 0.68
R7928:Stil UTSW 4 114,887,198 (GRCm39) missense probably damaging 0.98
R9064:Stil UTSW 4 114,898,932 (GRCm39) missense probably benign 0.00
R9140:Stil UTSW 4 114,864,449 (GRCm39) missense probably damaging 1.00
R9500:Stil UTSW 4 114,878,716 (GRCm39) missense possibly damaging 0.93
R9695:Stil UTSW 4 114,881,378 (GRCm39) missense probably damaging 1.00
R9697:Stil UTSW 4 114,878,701 (GRCm39) missense probably benign 0.45
Z1088:Stil UTSW 4 114,863,890 (GRCm39) missense probably damaging 1.00
Z1177:Stil UTSW 4 114,898,576 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07