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)
|
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
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: V714A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000109182 Gene: ENSMUSG00000026213 AA Change: V714A
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: 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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |