Incidental Mutation 'R3054:Stil'
ID 265062
Institutional Source Beutler Lab
Gene Symbol Stil
Ensembl Gene ENSMUSG00000028718
Gene Name Scl/Tal1 interrupting locus
Synonyms Sil
MMRRC Submission 040563-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3054 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 114857356-114900393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114862163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 35 (H35Q)
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: H35Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: H35Q

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: H35Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718
AA Change: H35Q

DomainStartEndE-ValueType
Pfam:STIL_N 22 416 1.5e-180 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141933
AA Change: H35Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718
AA Change: H35Q

DomainStartEndE-ValueType
Pfam:STIL_N 22 392 6.6e-166 PFAM
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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,108 (GRCm39) probably benign Het
Aldh1l2 T C 10: 83,338,336 (GRCm39) K528E probably benign Het
Als2 A G 1: 59,254,653 (GRCm39) C235R probably damaging Het
Armc6 C A 8: 70,677,799 (GRCm39) V177L probably benign Het
Asb7 A T 7: 66,328,959 (GRCm39) V27D probably damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cst3 A G 2: 148,713,951 (GRCm39) S118P probably damaging Het
Cyp2a22 T C 7: 26,638,254 (GRCm39) D84G probably damaging Het
Ddo A G 10: 40,507,738 (GRCm39) N45S probably benign Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fras1 A T 5: 96,912,802 (GRCm39) I3369F probably damaging Het
Gm5591 T C 7: 38,220,058 (GRCm39) S272G probably benign Het
Gm8444 A T 15: 81,727,845 (GRCm39) probably benign Het
Gm9776 A G 13: 94,495,158 (GRCm39) probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Larp1b A T 3: 40,918,535 (GRCm39) I59F probably benign Het
Ltn1 C T 16: 87,200,961 (GRCm39) A1092T probably benign Het
Map1b A G 13: 99,569,250 (GRCm39) V1157A unknown Het
Mboat1 A T 13: 30,379,724 (GRCm39) M92L probably benign Het
Meis3 G T 7: 15,916,378 (GRCm39) L284F probably damaging Het
Muc20 T C 16: 32,599,403 (GRCm39) F3317L probably benign Het
Muc5b G T 7: 141,417,778 (GRCm39) V3575F probably damaging Het
Polr1e C T 4: 45,018,724 (GRCm39) T18I possibly damaging Het
Ppp4r1 G T 17: 66,143,074 (GRCm39) A764S probably damaging Het
Psg29 A G 7: 16,942,727 (GRCm39) T243A probably benign Het
Ptprn2 T C 12: 116,685,753 (GRCm39) Y71H probably damaging Het
Radx T A X: 138,412,306 (GRCm39) V439E possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3bp1 C T 15: 78,795,622 (GRCm39) P584S probably benign Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Strn A T 17: 78,990,321 (GRCm39) V65D probably damaging Het
Sumf1 T C 6: 108,130,165 (GRCm39) N185D probably benign Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tjp3 T C 10: 81,116,341 (GRCm39) K251R probably benign Het
Tubgcp6 A T 15: 89,006,806 (GRCm39) M72K probably damaging Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vps13b A G 15: 35,646,507 (GRCm39) E1537G probably damaging Het
Zfr A G 15: 12,154,593 (GRCm39) N592S 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACTTAGAATGCCTGGCAAAG -3'
(R):5'- TCCACATAAAAGATGGGTGCAG -3'

Sequencing Primer
(F):5'- GCCTGGCAAAGAGAATTAACTTTC -3'
(R):5'- CCAGAGCTAGTGAGATCCTGATTC -3'
Posted On 2015-02-05