Incidental Mutation 'R6485:Stk11ip'
| ID |
517289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk11ip
|
| Ensembl Gene |
ENSMUSG00000026213 |
| Gene Name |
serine/threonine kinase 11 interacting protein |
| Synonyms |
1200014D22Rik, LIP1, LKB1IP |
| MMRRC Submission |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75498173-75513979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75506612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 605
(V605A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027414]
[ENSMUST00000113553]
|
| AlphaFold |
Q3TAA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027414
AA Change: V605A
PolyPhen 2
Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
AA Change: V605A
| 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 |
possibly damaging
Transcript: ENSMUST00000113553
AA Change: V605A
PolyPhen 2
Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: V605A
| 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: ENSMUST00000150560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156838
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGGACTCTATGCAAGGGC -3'
(R):5'- AATGGGGTCAGTACTGCAAGC -3'
Sequencing Primer
(F):5'- CAAGGGCTTTGTGTCAGACCAG -3'
(R):5'- TGCAAGCAGCTCCTGAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation