Incidental Mutation 'R5689:Ilk'
ID |
443571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ilk
|
Ensembl Gene |
ENSMUSG00000030890 |
Gene Name |
integrin linked kinase |
Synonyms |
ESTM24 |
MMRRC Submission |
043322-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
105385799-105392132 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105390857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 267
(L267I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000033184]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000149695]
[ENSMUST00000141116]
[ENSMUST00000163389]
|
AlphaFold |
O55222 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033179
|
SMART Domains |
Protein: ENSMUSP00000033179 Gene: ENSMUSG00000030888
Domain | Start | End | E-Value | Type |
low complexity region
|
186 |
202 |
N/A |
INTRINSIC |
Pfam:Methyltransf_8
|
238 |
457 |
2.4e-107 |
PFAM |
Pfam:Methyltransf_11
|
314 |
391 |
2e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033182
AA Change: L267I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033182 Gene: ENSMUSG00000030890 AA Change: L267I
Domain | Start | End | E-Value | Type |
ANK
|
33 |
62 |
4.71e-6 |
SMART |
ANK
|
66 |
95 |
1.04e-7 |
SMART |
ANK
|
99 |
128 |
1.02e-1 |
SMART |
Pfam:Pkinase
|
193 |
445 |
1.5e-25 |
PFAM |
Pfam:Pkinase_Tyr
|
193 |
446 |
7.2e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033184
|
SMART Domains |
Protein: ENSMUSP00000033184 Gene: ENSMUSG00000030894
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pro-kuma_activ
|
32 |
176 |
4.53e-50 |
SMART |
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
Pfam:Peptidase_S8
|
251 |
492 |
1.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000054556
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098148
|
SMART Domains |
Protein: ENSMUSP00000095752 Gene: ENSMUSG00000030888
Domain | Start | End | E-Value | Type |
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
Pfam:Methyltransf_8
|
284 |
503 |
7.5e-107 |
PFAM |
Pfam:Methyltransf_11
|
348 |
437 |
2.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127298
|
Predicted Effect |
unknown
Transcript: ENSMUST00000130565
AA Change: L23I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152508
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136687
AA Change: L267I
|
SMART Domains |
Protein: ENSMUSP00000123443 Gene: ENSMUSG00000030890 AA Change: L267I
Domain | Start | End | E-Value | Type |
ANK
|
33 |
62 |
4.71e-6 |
SMART |
ANK
|
66 |
95 |
1.04e-7 |
SMART |
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131683
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148971
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141116
|
SMART Domains |
Protein: ENSMUSP00000118105 Gene: ENSMUSG00000043866
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
39 |
N/A |
INTRINSIC |
low complexity region
|
45 |
91 |
N/A |
INTRINSIC |
Pfam:TFIID_30kDa
|
128 |
177 |
6.1e-30 |
PFAM |
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163389
AA Change: L267I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130341 Gene: ENSMUSG00000030890 AA Change: L267I
Domain | Start | End | E-Value | Type |
ANK
|
33 |
62 |
4.71e-6 |
SMART |
ANK
|
66 |
95 |
1.04e-7 |
SMART |
ANK
|
99 |
128 |
1.02e-1 |
SMART |
Pfam:Pkinase_Tyr
|
193 |
446 |
4e-39 |
PFAM |
Pfam:Pkinase
|
195 |
445 |
3e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210840
|
Meta Mutation Damage Score |
0.0887 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (63/66) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] PHENOTYPE: Nullizygous embryos do not polarize the epiblast and die after implantation. Mice with mutations in the ATP-binding site show aphagia, hunched posture, and neonatal death due to renal aplasia. Mice with mutations in the paxillin-binding site show vasculogenesis and growth defects, and die at ~E12.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
G |
T |
8: 89,051,412 (GRCm39) |
C844F |
probably benign |
Het |
Afdn |
T |
C |
17: 14,075,621 (GRCm39) |
V945A |
probably damaging |
Het |
Aimp2 |
T |
C |
5: 143,843,389 (GRCm39) |
D67G |
possibly damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp11b |
G |
T |
3: 35,888,501 (GRCm39) |
V924F |
possibly damaging |
Het |
Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
Cfb |
T |
A |
17: 35,080,770 (GRCm39) |
T76S |
probably benign |
Het |
Cmpk2 |
A |
T |
12: 26,519,766 (GRCm39) |
H139L |
probably benign |
Het |
Cypt4 |
T |
C |
9: 24,536,542 (GRCm39) |
S11P |
possibly damaging |
Het |
Dbx1 |
A |
G |
7: 49,282,519 (GRCm39) |
F229L |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,444,857 (GRCm39) |
V3949A |
possibly damaging |
Het |
Dnajc25 |
A |
G |
4: 59,017,716 (GRCm39) |
E6G |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,169,689 (GRCm39) |
V263F |
probably damaging |
Het |
Eno4 |
T |
A |
19: 58,959,088 (GRCm39) |
D403E |
probably benign |
Het |
Evi5l |
C |
T |
8: 4,255,460 (GRCm39) |
Q542* |
probably null |
Het |
Fam135a |
A |
G |
1: 24,068,134 (GRCm39) |
S12P |
probably benign |
Het |
Flnc |
G |
A |
6: 29,441,591 (GRCm39) |
A458T |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,393,115 (GRCm39) |
V517A |
probably damaging |
Het |
Galc |
G |
T |
12: 98,179,245 (GRCm39) |
H361N |
possibly damaging |
Het |
Gask1a |
T |
C |
9: 121,794,754 (GRCm39) |
F303L |
probably damaging |
Het |
Gcnt1 |
T |
A |
19: 17,306,768 (GRCm39) |
D319V |
probably damaging |
Het |
Gm26996 |
T |
C |
6: 130,555,258 (GRCm39) |
|
noncoding transcript |
Het |
Gm5321 |
A |
T |
7: 6,022,268 (GRCm39) |
|
noncoding transcript |
Het |
Grin3b |
T |
C |
10: 79,810,465 (GRCm39) |
L657P |
probably damaging |
Het |
Gstm5 |
T |
C |
3: 107,803,981 (GRCm39) |
F54S |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,214,285 (GRCm39) |
Y713C |
probably damaging |
Het |
Lnx2 |
A |
T |
5: 146,965,961 (GRCm39) |
V386E |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,023,764 (GRCm39) |
E587G |
probably damaging |
Het |
Or10g3 |
C |
T |
14: 52,610,214 (GRCm39) |
V99M |
possibly damaging |
Het |
Osgin1 |
A |
G |
8: 120,171,728 (GRCm39) |
*173W |
probably null |
Het |
Pcdhga7 |
C |
A |
18: 37,849,736 (GRCm39) |
P581H |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,599,683 (GRCm39) |
L2384* |
probably null |
Het |
Phf12 |
T |
A |
11: 77,914,551 (GRCm39) |
N115K |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,552,170 (GRCm39) |
T335A |
probably damaging |
Het |
Polr3e |
C |
A |
7: 120,539,912 (GRCm39) |
T579K |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,045,515 (GRCm39) |
V164A |
probably benign |
Het |
Rapsn |
T |
C |
2: 90,866,269 (GRCm39) |
F43S |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,434,177 (GRCm38) |
I334F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,670,954 (GRCm39) |
Y167H |
probably damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,800 (GRCm39) |
T29A |
probably benign |
Het |
Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,598,710 (GRCm39) |
M223I |
probably benign |
Het |
Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
Slitrk6 |
C |
T |
14: 110,989,558 (GRCm39) |
E50K |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,975,949 (GRCm39) |
F544S |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,571,063 (GRCm39) |
M444V |
possibly damaging |
Het |
Trav7d-4 |
G |
A |
14: 53,007,651 (GRCm39) |
R48H |
probably damaging |
Het |
Trim50 |
A |
T |
5: 135,382,516 (GRCm39) |
T123S |
probably damaging |
Het |
Trpc4ap |
C |
G |
2: 155,512,955 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,618,620 (GRCm39) |
R14475S |
probably damaging |
Het |
Uts2 |
A |
T |
4: 151,083,565 (GRCm39) |
T59S |
possibly damaging |
Het |
Vmn1r52 |
T |
C |
6: 90,156,232 (GRCm39) |
S179P |
possibly damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,616,693 (GRCm39) |
H537R |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,311,360 (GRCm39) |
T445A |
possibly damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,054 (GRCm39) |
V73A |
probably damaging |
Het |
|
Other mutations in Ilk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02000:Ilk
|
APN |
7 |
105,390,376 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02326:Ilk
|
APN |
7 |
105,390,840 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02969:Ilk
|
APN |
7 |
105,389,547 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03115:Ilk
|
APN |
7 |
105,389,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R3408:Ilk
|
UTSW |
7 |
105,390,181 (GRCm39) |
missense |
probably benign |
|
R3792:Ilk
|
UTSW |
7 |
105,391,294 (GRCm39) |
nonsense |
probably null |
|
R4879:Ilk
|
UTSW |
7 |
105,391,011 (GRCm39) |
missense |
probably benign |
0.00 |
R5011:Ilk
|
UTSW |
7 |
105,391,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R5013:Ilk
|
UTSW |
7 |
105,391,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R5147:Ilk
|
UTSW |
7 |
105,391,774 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5837:Ilk
|
UTSW |
7 |
105,390,378 (GRCm39) |
splice site |
probably null |
|
R9430:Ilk
|
UTSW |
7 |
105,390,072 (GRCm39) |
missense |
probably benign |
|
R9506:Ilk
|
UTSW |
7 |
105,390,020 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTCAATGAGGAATGTCCCC -3'
(R):5'- AAGAAAAGCCATGCCTCTTGC -3'
Sequencing Primer
(F):5'- AATGAGGAATGTCCCCGGCTC -3'
(R):5'- TGTCCAAAGCAAACTTTACAGCTTGG -3'
|
Posted On |
2016-11-09 |