Incidental Mutation 'IGL02826:Stil'
ID 361198
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 # IGL02826
Quality Score
Status
Chromosome 4
Chromosomal Location 114857356-114900393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114881295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 613 (D613G)
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: D613G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: D613G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,302 (GRCm39) probably benign Het
Alk C T 17: 72,176,531 (GRCm39) G1591D probably damaging Het
Angptl2 T C 2: 33,118,327 (GRCm39) S34P probably benign Het
Atp2a2 A G 5: 122,627,354 (GRCm39) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm39) M845V probably damaging Het
Camk1d A G 2: 5,570,571 (GRCm39) V30A possibly damaging Het
Ceacam19 G A 7: 19,616,535 (GRCm39) T193I probably benign Het
Cfap298 A C 16: 90,722,950 (GRCm39) D261E probably benign Het
Chst15 T A 7: 131,868,475 (GRCm39) D315V probably damaging Het
Cux1 G T 5: 136,336,857 (GRCm39) P885Q probably damaging Het
Cyth1 C T 11: 118,076,307 (GRCm39) E88K possibly damaging Het
Dido1 A G 2: 180,325,751 (GRCm39) V479A probably benign Het
Dlc1 G T 8: 37,037,429 (GRCm39) probably benign Het
H2-Ab1 G A 17: 34,483,885 (GRCm39) R82Q probably damaging Het
Hps6 T A 19: 45,994,480 (GRCm39) *806K probably null Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Kdm1b C A 13: 47,233,943 (GRCm39) T759K probably damaging Het
Kirrel1 C A 3: 86,995,792 (GRCm39) V381F probably damaging Het
Kmt2b A T 7: 30,276,569 (GRCm39) V1701E probably damaging Het
Lrmda T C 14: 22,878,805 (GRCm39) Y100H probably damaging Het
Mastl T C 2: 23,035,421 (GRCm39) I169V probably damaging Het
Mroh2b A G 15: 4,991,630 (GRCm39) E1576G probably damaging Het
Nek3 A T 8: 22,650,384 (GRCm39) probably null Het
Nipal3 G T 4: 135,195,861 (GRCm39) Y247* probably null Het
Nt5e A C 9: 88,237,758 (GRCm39) K229N probably damaging Het
Opa1 A G 16: 29,429,705 (GRCm39) M290V probably null Het
Or2a14 A G 6: 43,130,511 (GRCm39) I91V possibly damaging Het
Or8d6 G T 9: 39,854,254 (GRCm39) G233C probably damaging Het
Parp2 T A 14: 51,052,872 (GRCm39) I155K probably benign Het
Pde4dip G T 3: 97,674,403 (GRCm39) A171E probably damaging Het
Prom2 C T 2: 127,373,036 (GRCm39) E678K probably benign Het
Rab12 A G 17: 66,805,111 (GRCm39) probably benign Het
Rgs8 A T 1: 153,546,545 (GRCm39) T13S probably damaging Het
Setd3 A G 12: 108,078,383 (GRCm39) probably benign Het
Shisal1 A G 15: 84,304,330 (GRCm39) probably benign Het
Slx4ip G A 2: 136,846,893 (GRCm39) V53I probably damaging Het
Tektip1 A G 10: 81,200,570 (GRCm39) probably benign Het
Tjp3 T A 10: 81,109,523 (GRCm39) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm39) *236W probably null Het
Ttbk1 A G 17: 46,781,586 (GRCm39) V389A probably benign Het
Wdfy4 A G 14: 32,693,707 (GRCm39) F2706S possibly damaging Het
Xpo4 C A 14: 57,866,877 (GRCm39) V222L possibly damaging Het
Zfc3h1 A G 10: 115,236,809 (GRCm39) S428G probably benign Het
Zfp286 T C 11: 62,678,786 (GRCm39) Q47R probably damaging Het
Zfp318 A G 17: 46,709,680 (GRCm39) K468E 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
IGL02076:Stil APN 4 114,880,834 (GRCm39) missense probably benign 0.03
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
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 2015-12-18