Incidental Mutation 'R3792:Ilk'
ID |
272590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ilk
|
Ensembl Gene |
ENSMUSG00000030890 |
Gene Name |
integrin linked kinase |
Synonyms |
ESTM24 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
105385799-105392132 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 105391294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 73
(W73*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033182]
[ENSMUST00000033184]
[ENSMUST00000098148]
[ENSMUST00000149695]
[ENSMUST00000141116]
[ENSMUST00000136687]
[ENSMUST00000163389]
|
AlphaFold |
O55222 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033182
AA Change: A357T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000033182 Gene: ENSMUSG00000030890 AA Change: A357T
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 |
probably benign
Transcript: ENSMUST00000130565
|
Predicted Effect |
probably null
Transcript: ENSMUST00000138150
AA Change: W73*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152508
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148971
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153557
|
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: ENSMUST00000136687
|
SMART Domains |
Protein: ENSMUSP00000123443 Gene: ENSMUSG00000030890
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 |
probably damaging
Transcript: ENSMUST00000163389
AA Change: A357T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130341 Gene: ENSMUSG00000030890 AA Change: A357T
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: ENSMUST00000210018
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210840
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
A |
G |
X: 80,464,423 (GRCm39) |
V428A |
probably benign |
Het |
Aanat |
T |
C |
11: 116,487,057 (GRCm39) |
L88P |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,566,671 (GRCm39) |
N1214I |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,543 (GRCm39) |
S192T |
probably damaging |
Het |
Bco1 |
G |
A |
8: 117,857,415 (GRCm39) |
V461I |
possibly damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cripto |
C |
T |
9: 110,772,258 (GRCm39) |
R46Q |
probably benign |
Het |
Cubn |
G |
A |
2: 13,432,725 (GRCm39) |
R1199C |
probably damaging |
Het |
Dcaf12l1 |
T |
C |
X: 43,877,313 (GRCm39) |
N495S |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,568,734 (GRCm39) |
Q1599K |
possibly damaging |
Het |
Dyrk1a |
C |
A |
16: 94,485,933 (GRCm39) |
L427I |
probably benign |
Het |
Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
F8 |
A |
T |
X: 74,328,971 (GRCm39) |
|
probably null |
Het |
Fam135a |
T |
C |
1: 24,067,392 (GRCm39) |
Y259C |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,666,533 (GRCm39) |
|
probably null |
Het |
Fbxo43 |
T |
C |
15: 36,163,005 (GRCm39) |
I67M |
probably benign |
Het |
Gcfc2 |
G |
T |
6: 81,907,748 (GRCm39) |
C154F |
probably benign |
Het |
Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
Ism1 |
T |
C |
2: 139,582,173 (GRCm39) |
S162P |
probably damaging |
Het |
Itpkb |
T |
A |
1: 180,160,738 (GRCm39) |
L288Q |
possibly damaging |
Het |
Itpr2 |
C |
A |
6: 146,316,852 (GRCm39) |
K306N |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,374,540 (GRCm39) |
E864K |
possibly damaging |
Het |
Kdm4b |
G |
A |
17: 56,662,944 (GRCm39) |
V172M |
probably damaging |
Het |
Kyat3 |
A |
T |
3: 142,443,605 (GRCm39) |
K406M |
probably null |
Het |
Lipe |
T |
A |
7: 25,097,045 (GRCm39) |
K299N |
possibly damaging |
Het |
Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
Mptx2 |
T |
A |
1: 173,102,240 (GRCm39) |
I150F |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,953,102 (GRCm39) |
W612L |
probably damaging |
Het |
Mucl2 |
T |
C |
15: 103,928,692 (GRCm39) |
T27A |
possibly damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
Oprm1 |
T |
C |
10: 6,789,544 (GRCm39) |
S390P |
probably benign |
Het |
Or2m12 |
A |
G |
16: 19,104,696 (GRCm39) |
S266P |
possibly damaging |
Het |
Or51v8 |
A |
T |
7: 103,319,353 (GRCm39) |
I295N |
probably damaging |
Het |
Pcdhb14 |
T |
C |
18: 37,582,715 (GRCm39) |
L607P |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,671,721 (GRCm39) |
I133N |
probably damaging |
Het |
Rasl10a |
T |
C |
11: 5,009,461 (GRCm39) |
L83S |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,884,779 (GRCm39) |
V382M |
probably damaging |
Het |
Sh3gl1 |
T |
C |
17: 56,325,949 (GRCm39) |
K160R |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,704,622 (GRCm39) |
I454T |
probably damaging |
Het |
Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
Tcstv7b |
G |
T |
13: 120,702,467 (GRCm39) |
V88F |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,600,155 (GRCm39) |
K95R |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,783,231 (GRCm39) |
E511V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,232 (GRCm39) |
F25258L |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,639,290 (GRCm39) |
C13828G |
probably damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,573 (GRCm39) |
M238L |
probably damaging |
Het |
Vmn1r38 |
A |
G |
6: 66,753,891 (GRCm39) |
I75T |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
Vwa7 |
T |
C |
17: 35,244,135 (GRCm39) |
|
probably null |
Het |
Zfp128 |
T |
A |
7: 12,618,659 (GRCm39) |
D52E |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,033,728 (GRCm39) |
|
probably benign |
Het |
Zkscan2 |
T |
A |
7: 123,084,225 (GRCm39) |
E633V |
possibly 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 |
|
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 |
R5689:Ilk
|
UTSW |
7 |
105,390,857 (GRCm39) |
missense |
probably benign |
|
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'- TCAATAGCCGCAGTGTAATGG -3'
(R):5'- TGTCACCAGTTCCCACAGAAG -3'
Sequencing Primer
(F):5'- GTGAGACCACAGTTCACTTCTGG -3'
(R):5'- GTTCCCACAGAAGCACCG -3'
|
Posted On |
2015-03-25 |