Incidental Mutation 'IGL01776:Stk11ip'
ID153860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk11ip
Ensembl Gene ENSMUSG00000026213
Gene Nameserine/threonine kinase 11 interacting protein
Synonyms1200014D22Rik, LKB1IP, LIP1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01776
Quality Score
Status
Chromosome1
Chromosomal Location75521529-75537335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75527821 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 322 (V322A)
Ref Sequence ENSEMBL: ENSMUSP00000109182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027414] [ENSMUST00000113553]
Predicted Effect probably benign
Transcript: ENSMUST00000027414
AA Change: V322A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
AA Change: V322A

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: V322A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: V322A

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: ENSMUST00000129652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146575
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G A 5: 90,283,364 Q854* probably null Het
Armc8 A G 9: 99,526,883 probably benign Het
Chrna7 A G 7: 63,099,519 V405A probably benign Het
Col8a2 C A 4: 126,309,805 probably benign Het
Dcn A G 10: 97,495,076 I91V possibly damaging Het
Dock7 T A 4: 98,940,941 R2069S possibly damaging Het
Gm7247 A G 14: 51,521,899 S112G possibly damaging Het
Hmcn1 T G 1: 150,672,038 T2721P possibly damaging Het
Hsd3b3 T C 3: 98,743,847 T96A probably benign Het
Ifi207 G A 1: 173,725,044 L936F probably damaging Het
Kcp G A 6: 29,497,908 P477S probably damaging Het
Mei1 T C 15: 82,095,932 probably null Het
Mgmt T A 7: 137,121,564 L121* probably null Het
Mrps35 G A 6: 147,070,716 V286I probably benign Het
Naxd T C 8: 11,505,525 probably null Het
Pam A G 1: 97,885,600 probably null Het
Plcxd1 G A 5: 110,101,380 probably benign Het
Rasgrp1 A G 2: 117,286,840 probably null Het
Spag9 C T 11: 94,116,727 probably benign Het
Spire2 T C 8: 123,359,392 S288P probably damaging Het
Syt17 A C 7: 118,409,953 L343R probably damaging Het
Tap1 G A 17: 34,193,128 V436I possibly damaging Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Other mutations in Stk11ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Stk11ip APN 1 75530266 missense probably damaging 1.00
IGL02752:Stk11ip APN 1 75524681 critical splice acceptor site probably null
IGL03132:Stk11ip APN 1 75536089 missense probably benign 0.00
IGL03188:Stk11ip APN 1 75534435 missense probably benign 0.00
R6768_Stk11ip_021 UTSW 1 75532635 missense probably benign
sienna UTSW 1 75527355 splice site probably null
R0234:Stk11ip UTSW 1 75529067 missense possibly damaging 0.47
R0234:Stk11ip UTSW 1 75529067 missense possibly damaging 0.47
R0617:Stk11ip UTSW 1 75532288 splice site probably null
R0712:Stk11ip UTSW 1 75527447 missense probably damaging 0.99
R1672:Stk11ip UTSW 1 75528985 nonsense probably null
R1694:Stk11ip UTSW 1 75527386 missense probably damaging 1.00
R1891:Stk11ip UTSW 1 75532416 missense probably benign 0.08
R2061:Stk11ip UTSW 1 75529584 missense possibly damaging 0.94
R2094:Stk11ip UTSW 1 75525521 splice site probably benign
R2851:Stk11ip UTSW 1 75529267 splice site probably benign
R2852:Stk11ip UTSW 1 75529267 splice site probably benign
R4765:Stk11ip UTSW 1 75527155 missense probably damaging 1.00
R4775:Stk11ip UTSW 1 75533853 missense possibly damaging 0.95
R4785:Stk11ip UTSW 1 75530281 missense possibly damaging 0.95
R5002:Stk11ip UTSW 1 75532543 intron probably benign
R5524:Stk11ip UTSW 1 75532327 missense probably damaging 1.00
R5538:Stk11ip UTSW 1 75528335 missense probably damaging 1.00
R5849:Stk11ip UTSW 1 75527355 splice site probably null
R5927:Stk11ip UTSW 1 75524691 missense possibly damaging 0.93
R6053:Stk11ip UTSW 1 75534255 critical splice donor site probably null
R6485:Stk11ip UTSW 1 75529968 missense possibly damaging 0.47
R6734:Stk11ip UTSW 1 75532369 missense probably benign 0.04
R6768:Stk11ip UTSW 1 75532635 missense probably benign
R7070:Stk11ip UTSW 1 75527615 missense probably benign 0.39
R7882:Stk11ip UTSW 1 75529464 missense probably benign 0.03
R7965:Stk11ip UTSW 1 75529464 missense probably benign 0.03
X0066:Stk11ip UTSW 1 75534426 missense probably benign 0.00
Posted On2014-02-04