Incidental Mutation 'IGL01776:Stk11ip'
| ID |
153860 |
| 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 # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75498173-75513979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75504465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q3TAA7 |
| 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
| 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: V322A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: V322A
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
| Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation