Incidental Mutation 'IGL03132:Stk11ip'
ID 410369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk11ip
Ensembl Gene ENSMUSG00000026213
Gene Name serine/threonine kinase 11 interacting protein
Synonyms 1200014D22Rik, LIP1, LKB1IP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03132
Quality Score
Status
Chromosome 1
Chromosomal Location 75498173-75513979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75512733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1025 (S1025P)
Ref Sequence ENSEMBL: ENSMUSP00000109182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027414] [ENSMUST00000113553]
AlphaFold Q3TAA7
Predicted Effect probably benign
Transcript: ENSMUST00000027414
AA Change: S1025P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
AA Change: S1025P

DomainStartEndE-ValueType
low complexity region 25 41 N/A INTRINSIC
SCOP:d1h6ua2 74 291 2e-19 SMART
Blast:LRR 208 231 2e-6 BLAST
Blast:LRR 253 276 5e-6 BLAST
Blast:LRR 278 304 2e-8 BLAST
low complexity region 376 386 N/A INTRINSIC
coiled coil region 495 528 N/A INTRINSIC
low complexity region 752 767 N/A INTRINSIC
low complexity region 948 959 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113553
AA Change: S1025P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: S1025P

DomainStartEndE-ValueType
Pfam:LIP1 4 94 2.9e-45 PFAM
low complexity region 175 194 N/A INTRINSIC
Blast:LRR 208 231 2e-6 BLAST
Blast:LRR 253 276 5e-6 BLAST
Blast:LRR 278 304 2e-8 BLAST
low complexity region 376 386 N/A INTRINSIC
coiled coil region 495 528 N/A INTRINSIC
low complexity region 752 767 N/A INTRINSIC
low complexity region 948 959 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156838
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,815,941 (GRCm39) R177C probably benign Het
Adam21 C A 12: 81,607,148 (GRCm39) G205* probably null Het
Baz2b T A 2: 59,738,097 (GRCm39) probably benign Het
Col6a3 C T 1: 90,731,615 (GRCm39) G939D probably damaging Het
Csf1r A G 18: 61,261,171 (GRCm39) E749G probably benign Het
Dnm3 C T 1: 161,838,674 (GRCm39) probably null Het
Dsg3 A G 18: 20,657,653 (GRCm39) D241G probably damaging Het
Dst T C 1: 34,295,722 (GRCm39) S6015P probably benign Het
Dvl2 T C 11: 69,896,514 (GRCm39) S183P probably benign Het
Exoc6b T C 6: 84,768,246 (GRCm39) N699S possibly damaging Het
Fat2 T C 11: 55,144,746 (GRCm39) R4043G probably benign Het
Gbp9 T A 5: 105,232,819 (GRCm39) T278S possibly damaging Het
Gm2a T A 11: 54,994,474 (GRCm39) I48N probably damaging Het
Gorasp2 T C 2: 70,514,379 (GRCm39) V232A probably benign Het
Gpa33 G A 1: 165,980,218 (GRCm39) D94N probably benign Het
Il1rap A T 16: 26,498,869 (GRCm39) S123C probably damaging Het
Kctd17 T C 15: 78,319,887 (GRCm39) S102P probably damaging Het
Lamb1 A G 12: 31,350,333 (GRCm39) probably null Het
Mfsd1 T A 3: 67,495,273 (GRCm39) I131K possibly damaging Het
Pkhd1l1 G A 15: 44,438,013 (GRCm39) C3576Y probably damaging Het
Pla2g4a A T 1: 149,778,035 (GRCm39) probably benign Het
Ptpn11 T A 5: 121,272,878 (GRCm39) D575V possibly damaging Het
Reck A T 4: 43,938,898 (GRCm39) R755* probably null Het
Scgb2b21 A G 7: 33,219,299 (GRCm39) V35A possibly damaging Het
Srpra G A 9: 35,125,574 (GRCm39) probably null Het
Tmprss9 G A 10: 80,730,699 (GRCm39) V742M probably damaging Het
Trh T C 6: 92,220,755 (GRCm39) T36A probably benign Het
Trim35 A G 14: 66,546,595 (GRCm39) E454G probably damaging Het
Vmn2r99 C T 17: 19,598,485 (GRCm39) Q170* probably null Het
Other mutations in Stk11ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Stk11ip APN 1 75,506,910 (GRCm39) missense probably damaging 1.00
IGL01776:Stk11ip APN 1 75,504,465 (GRCm39) missense probably benign 0.02
IGL02752:Stk11ip APN 1 75,501,325 (GRCm39) critical splice acceptor site probably null
IGL03188:Stk11ip APN 1 75,511,079 (GRCm39) missense probably benign 0.00
R6768_Stk11ip_021 UTSW 1 75,509,279 (GRCm39) missense probably benign
sienna UTSW 1 75,503,999 (GRCm39) splice site probably null
R0234:Stk11ip UTSW 1 75,505,711 (GRCm39) missense possibly damaging 0.47
R0234:Stk11ip UTSW 1 75,505,711 (GRCm39) missense possibly damaging 0.47
R0617:Stk11ip UTSW 1 75,508,932 (GRCm39) splice site probably null
R0712:Stk11ip UTSW 1 75,504,091 (GRCm39) missense probably damaging 0.99
R1672:Stk11ip UTSW 1 75,505,629 (GRCm39) nonsense probably null
R1694:Stk11ip UTSW 1 75,504,030 (GRCm39) missense probably damaging 1.00
R1891:Stk11ip UTSW 1 75,509,060 (GRCm39) missense probably benign 0.08
R2061:Stk11ip UTSW 1 75,506,228 (GRCm39) missense possibly damaging 0.94
R2094:Stk11ip UTSW 1 75,502,165 (GRCm39) splice site probably benign
R2851:Stk11ip UTSW 1 75,505,911 (GRCm39) splice site probably benign
R2852:Stk11ip UTSW 1 75,505,911 (GRCm39) splice site probably benign
R4765:Stk11ip UTSW 1 75,503,799 (GRCm39) missense probably damaging 1.00
R4775:Stk11ip UTSW 1 75,510,497 (GRCm39) missense possibly damaging 0.95
R4785:Stk11ip UTSW 1 75,506,925 (GRCm39) missense possibly damaging 0.95
R5002:Stk11ip UTSW 1 75,509,187 (GRCm39) intron probably benign
R5524:Stk11ip UTSW 1 75,508,971 (GRCm39) missense probably damaging 1.00
R5538:Stk11ip UTSW 1 75,504,979 (GRCm39) missense probably damaging 1.00
R5849:Stk11ip UTSW 1 75,503,999 (GRCm39) splice site probably null
R5927:Stk11ip UTSW 1 75,501,335 (GRCm39) missense possibly damaging 0.93
R6053:Stk11ip UTSW 1 75,510,899 (GRCm39) critical splice donor site probably null
R6485:Stk11ip UTSW 1 75,506,612 (GRCm39) missense possibly damaging 0.47
R6734:Stk11ip UTSW 1 75,509,013 (GRCm39) missense probably benign 0.04
R6768:Stk11ip UTSW 1 75,509,279 (GRCm39) missense probably benign
R7070:Stk11ip UTSW 1 75,504,259 (GRCm39) missense probably benign 0.39
R7882:Stk11ip UTSW 1 75,506,108 (GRCm39) missense probably benign 0.03
R8804:Stk11ip UTSW 1 75,511,900 (GRCm39) missense probably benign 0.15
R9086:Stk11ip UTSW 1 75,506,818 (GRCm39) missense possibly damaging 0.76
R9642:Stk11ip UTSW 1 75,510,899 (GRCm39) critical splice donor site probably null
R9648:Stk11ip UTSW 1 75,505,585 (GRCm39) missense probably damaging 0.99
X0066:Stk11ip UTSW 1 75,511,070 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02