Incidental Mutation 'R7294:Stil'
ID 566610
Institutional Source Beutler Lab
Gene Symbol Stil
Ensembl Gene ENSMUSG00000028718
Gene Name Scl/Tal1 interrupting locus
Synonyms Sil
MMRRC Submission 045399-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7294 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 114857356-114900393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114864480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 127 (V127A)
Ref Sequence ENSEMBL: ENSMUSP00000030490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030490] [ENSMUST00000129957] [ENSMUST00000141933] [ENSMUST00000147519]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030490
AA Change: V127A

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: V127A

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 possibly damaging
Transcript: ENSMUST00000129957
AA Change: V127A

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718
AA Change: V127A

DomainStartEndE-ValueType
Pfam:STIL_N 22 416 1.5e-180 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141933
AA Change: V127A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718
AA Change: V127A

DomainStartEndE-ValueType
Pfam:STIL_N 22 392 6.6e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147519
AA Change: V61A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120836
Gene: ENSMUSG00000028718
AA Change: V61A

DomainStartEndE-ValueType
Pfam:STIL_N 1 78 5.3e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (49/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,650,541 (GRCm39) Y1216* probably null Het
Abca17 G A 17: 24,539,983 (GRCm39) T415M not run Het
Adam1a G T 5: 121,658,068 (GRCm39) C408* probably null Het
Adamts9 G A 6: 92,871,270 (GRCm39) T603M probably damaging Het
Amdhd1 T C 10: 93,370,301 (GRCm39) E179G probably benign Het
Bcan T C 3: 87,902,831 (GRCm39) T316A possibly damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
C5ar1 T C 7: 15,982,950 (GRCm39) I23M probably benign Het
Cd109 A T 9: 78,619,917 (GRCm39) E1386D probably damaging Het
Cdcp1 C T 9: 123,006,986 (GRCm39) C587Y probably benign Het
Cdh22 A C 2: 164,984,013 (GRCm39) V413G possibly damaging Het
Cfap44 A G 16: 44,225,256 (GRCm39) probably benign Het
Col2a1 A G 15: 97,885,168 (GRCm39) probably null Het
Col6a3 A T 1: 90,756,005 (GRCm39) Y95N probably damaging Het
Dusp13b A G 14: 21,783,782 (GRCm39) S178P possibly damaging Het
Fhod3 A G 18: 25,266,037 (GRCm39) E1575G probably damaging Het
Gfpt2 C T 11: 49,709,435 (GRCm39) R209* probably null Het
Heg1 T C 16: 33,546,859 (GRCm39) S573P probably damaging Het
Hinfp A G 9: 44,210,567 (GRCm39) C152R probably damaging Het
Hmgcs2 C T 3: 98,198,211 (GRCm39) T38I probably benign Het
Jakmip1 T C 5: 37,274,804 (GRCm39) F441L possibly damaging Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kpna4 A C 3: 68,999,956 (GRCm39) probably null Het
Krt15 T A 11: 100,022,848 (GRCm39) I456F possibly damaging Het
Leprotl1 A T 8: 34,606,006 (GRCm39) probably null Het
Muc4 A T 16: 32,576,835 (GRCm39) T42S possibly damaging Het
Naa80 T G 9: 107,460,182 (GRCm39) F26V possibly damaging Het
Nr1h5 T C 3: 102,852,578 (GRCm39) T419A probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or4c12 A C 2: 89,774,068 (GRCm39) Y130* probably null Het
Or52b3 T A 7: 102,204,160 (GRCm39) I223N probably damaging Het
Pax6 T A 2: 105,515,246 (GRCm39) C66* probably null Het
Pde10a A T 17: 8,975,853 (GRCm39) N53Y probably benign Het
Pdgfra A G 5: 75,342,312 (GRCm39) N711S probably benign Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scn3a A G 2: 65,302,685 (GRCm39) S1254P probably damaging Het
Slc26a1 G T 5: 108,821,698 (GRCm39) R80S possibly damaging Het
Slc2a4 T C 11: 69,836,225 (GRCm39) D262G probably benign Het
Specc1 T A 11: 62,009,163 (GRCm39) S226R probably benign Het
Srsf4 A G 4: 131,627,772 (GRCm39) S289G unknown Het
Syne1 A T 10: 5,047,483 (GRCm39) probably null Het
Tbc1d22a T A 15: 86,196,036 (GRCm39) Y336N possibly damaging Het
Tbc1d8 C T 1: 39,445,843 (GRCm39) G116E probably damaging Het
Thrb A G 14: 17,826,963 (GRCm38) probably benign Het
Timd5 T A 11: 46,426,439 (GRCm39) I182K probably benign Het
Tln1 G T 4: 43,534,399 (GRCm39) H2253Q probably benign Het
Tmem131 A C 1: 36,893,928 (GRCm39) N158K possibly damaging Het
Toporsl A C 4: 52,611,903 (GRCm39) T599P probably benign Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Triobp C T 15: 78,858,176 (GRCm39) A1259V probably damaging Het
Zfp40 A G 17: 23,395,411 (GRCm39) I392T possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCACCTGGTAGACTACATAAGC -3'
(R):5'- TCATAAATTTCAGAGCGTGAGGG -3'

Sequencing Primer
(F):5'- GCTGAAATGTAGTTCTGCTTGG -3'
(R):5'- ATTTCAGAGCGTGAGGGGATGC -3'
Posted On 2019-06-26