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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |