Incidental Mutation 'R5002:Stk11ip'
| ID |
389979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk11ip
|
| Ensembl Gene |
ENSMUSG00000026213 |
| Gene Name |
serine/threonine kinase 11 interacting protein |
| Synonyms |
1200014D22Rik, LIP1, LKB1IP |
| MMRRC Submission |
042596-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75498173-75513979 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 75509187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027414]
[ENSMUST00000113553]
|
| AlphaFold |
Q3TAA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027414
|
| SMART Domains |
Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
94% (44/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
| Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
| Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
| Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
| Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
| Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
| Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
| Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
| Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
| Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
| Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
| Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGGTTCTCCTAGCTGTG -3'
(R):5'- GCACAGACCTTGATACAGCACTG -3'
Sequencing Primer
(F):5'- CTCCTAGCTGTGTCTGGGGAAG -3'
(R):5'- TTGATACAGCACTGGAACTCCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation