Incidental Mutation 'IGL02695:Stil'
ID 303891
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 # IGL02695
Quality Score
Status
Chromosome 4
Chromosomal Location 114857356-114900393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114873372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 332 (V332F)
Ref Sequence ENSEMBL: ENSMUSP00000123385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030490] [ENSMUST00000129957] [ENSMUST00000141933] [ENSMUST00000147519]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030490
AA Change: V332F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: V332F

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 damaging
Transcript: ENSMUST00000129957
AA Change: V332F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718
AA Change: V332F

DomainStartEndE-ValueType
Pfam:STIL_N 22 416 1.5e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130401
Predicted Effect probably damaging
Transcript: ENSMUST00000141933
AA Change: V332F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718
AA Change: V332F

DomainStartEndE-ValueType
Pfam:STIL_N 22 392 6.6e-166 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144316
Predicted Effect probably benign
Transcript: ENSMUST00000147519
SMART Domains Protein: ENSMUSP00000120836
Gene: ENSMUSG00000028718

DomainStartEndE-ValueType
Pfam:STIL_N 1 78 5.3e-34 PFAM
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,287,929 (GRCm39) M389K probably benign Het
Adamts4 C A 1: 171,080,203 (GRCm39) T252K probably damaging Het
Adgrb2 G A 4: 129,912,625 (GRCm39) G1293D probably damaging Het
Ankfn1 T C 11: 89,282,645 (GRCm39) E1013G probably damaging Het
Ankrd34b C A 13: 92,576,120 (GRCm39) H451N possibly damaging Het
Cd300c2 C T 11: 114,892,379 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,919,946 (GRCm39) Q637P probably benign Het
Cpne6 A T 14: 55,752,037 (GRCm39) I265F probably damaging Het
Dot1l C A 10: 80,613,442 (GRCm39) T18K probably damaging Het
Fam83c T C 2: 155,673,435 (GRCm39) D251G probably benign Het
Fyb1 A G 15: 6,610,402 (GRCm39) K325R probably damaging Het
Gas2l2 T A 11: 83,313,468 (GRCm39) I615F probably damaging Het
Gigyf2 A G 1: 87,344,549 (GRCm39) N494S probably benign Het
Gnaz T C 10: 74,827,974 (GRCm39) probably null Het
Haus5 A T 7: 30,362,702 (GRCm39) L36Q probably damaging Het
Hecw2 C T 1: 53,965,368 (GRCm39) G486D possibly damaging Het
Hmcn2 T C 2: 31,298,985 (GRCm39) F2777S possibly damaging Het
Il1rl1 T C 1: 40,485,718 (GRCm39) S290P possibly damaging Het
Itgam G T 7: 127,685,113 (GRCm39) A409S possibly damaging Het
Kdm5b T A 1: 134,532,223 (GRCm39) M467K possibly damaging Het
Lama2 A C 10: 26,876,771 (GRCm39) V2725G probably benign Het
Lhpp G A 7: 132,252,063 (GRCm39) R234Q probably damaging Het
Maf1 T C 15: 76,236,955 (GRCm39) S65P possibly damaging Het
Mgat5 T A 1: 127,339,868 (GRCm39) H416Q probably damaging Het
Mta2 A G 19: 8,925,728 (GRCm39) T408A probably benign Het
Neb T A 2: 52,145,603 (GRCm39) I2974F probably damaging Het
Neb C T 2: 52,101,608 (GRCm39) probably benign Het
Or1j19 C T 2: 36,677,332 (GRCm39) S265L possibly damaging Het
Or2d4 A G 7: 106,543,870 (GRCm39) S113P possibly damaging Het
Or52p1 A G 7: 104,267,678 (GRCm39) H264R probably damaging Het
Or5w22 C T 2: 87,362,461 (GRCm39) T28I probably benign Het
Pcca T A 14: 122,820,150 (GRCm39) probably benign Het
Prlr T C 15: 10,328,451 (GRCm39) F309L probably benign Het
Slc28a1 A T 7: 80,817,739 (GRCm39) Y536F probably benign Het
Slco1a8 A G 6: 141,933,486 (GRCm39) V433A probably damaging Het
Stab1 T A 14: 30,881,228 (GRCm39) N601Y probably damaging Het
Stk11 A G 10: 79,961,311 (GRCm39) probably null Het
Tmem59 A G 4: 107,050,511 (GRCm39) N147S probably benign 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
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 2015-04-16