Incidental Mutation 'R6734:Stk11ip'
ID 528323
Institutional Source Beutler Lab
Gene Symbol Stk11ip
Ensembl Gene ENSMUSG00000026213
Gene Name serine/threonine kinase 11 interacting protein
Synonyms 1200014D22Rik, LIP1, LKB1IP
MMRRC Submission 044852-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6734 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 75498173-75513979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75509013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 714 (V714A)
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: V714A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
AA Change: V714A

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: V714A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: V714A

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: ENSMUST00000129794
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ano6 A G 15: 95,847,417 (GRCm39) K554R probably damaging Het
Arhgef10 A T 8: 15,025,053 (GRCm39) I703F probably damaging Het
Bbs1 T C 19: 4,953,924 (GRCm39) S80G probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Camk1 C A 6: 113,311,345 (GRCm39) R352L probably benign Het
Cand1 G A 10: 119,047,897 (GRCm39) P531L possibly damaging Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Col24a1 C A 3: 145,214,429 (GRCm39) P1384Q probably benign Het
Csmd2 C A 4: 128,357,606 (GRCm39) T1689K probably benign Het
Cyp26a1 T A 19: 37,689,660 (GRCm39) L452H probably damaging Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dennd6a G T 14: 26,329,774 (GRCm39) R115L possibly damaging Het
Eml2 T A 7: 18,934,432 (GRCm39) V377E probably benign Het
Fam135b T C 15: 71,334,629 (GRCm39) E855G probably benign Het
Fam149a A T 8: 45,834,478 (GRCm39) I107K probably benign Het
Fam227b A T 2: 125,968,896 (GRCm39) Y59* probably null Het
Fbn2 T C 18: 58,169,032 (GRCm39) E2249G probably damaging Het
Flrt1 T C 19: 7,073,524 (GRCm39) D341G possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gsdma2 A G 11: 98,540,416 (GRCm39) T112A possibly damaging Het
Klhl24 T C 16: 19,926,279 (GRCm39) V269A probably damaging Het
Lcorl A G 5: 45,890,839 (GRCm39) S505P probably damaging Het
Liph A G 16: 21,802,707 (GRCm39) S121P probably damaging Het
Lrp4 G A 2: 91,316,242 (GRCm39) V787M possibly damaging Het
Lrrd1 A C 5: 3,900,226 (GRCm39) D177A possibly damaging Het
Mbd1 G A 18: 74,409,114 (GRCm39) R399H probably damaging Het
Naa25 C T 5: 121,576,888 (GRCm39) T879M possibly damaging Het
Naa35 T G 13: 59,756,005 (GRCm39) L147R possibly damaging Het
Ninl C A 2: 150,787,003 (GRCm39) probably null Het
Nrap T C 19: 56,333,941 (GRCm39) D972G probably damaging Het
Or9k7 A G 10: 130,046,126 (GRCm39) F291S probably benign Het
Pdzd2 T C 15: 12,592,551 (GRCm39) E31G probably damaging Het
Plec C T 15: 76,078,603 (GRCm39) E41K probably damaging Het
Plxnb1 A T 9: 108,937,988 (GRCm39) K1245* probably null Het
Ppfia1 T C 7: 144,032,790 (GRCm39) T1263A probably damaging Het
Prex2 G A 1: 11,150,283 (GRCm39) V152I probably damaging Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prss3l T C 6: 41,422,321 (GRCm39) Y28C probably damaging Het
Prune2 T G 19: 16,981,097 (GRCm39) F85V probably damaging Het
Rrp1b T G 17: 32,274,278 (GRCm39) probably benign Het
Sec62 A G 3: 30,864,609 (GRCm39) T158A probably benign Het
Sema6a G A 18: 47,412,236 (GRCm39) T526I probably benign Het
Shank1 G T 7: 44,003,110 (GRCm39) A1610S probably benign Het
Slc24a4 T C 12: 102,185,259 (GRCm39) V123A probably damaging Het
Tas1r3 T C 4: 155,945,257 (GRCm39) T655A probably damaging Het
Tns2 G T 15: 102,011,551 (GRCm39) L10F probably damaging Het
Trmt10c A G 16: 55,854,489 (GRCm39) V382A probably benign Het
Unc45a G C 7: 79,986,746 (GRCm39) T149R probably damaging Het
Zhx3 T G 2: 160,623,640 (GRCm39) I176L probably damaging Het
Zscan12 T A 13: 21,552,966 (GRCm39) C263* 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
IGL03132:Stk11ip APN 1 75,512,733 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGACTATGCTTAGATATGGGTGAGG -3'
(R):5'- CCAAGCACGCTTCCACTTTG -3'

Sequencing Primer
(F):5'- ATGCTGCGAATGCTGGC -3'
(R):5'- GTTCCACCCATACTCACATGG -3'
Posted On 2018-07-24