Incidental Mutation 'R8548:Ilkap'
ID |
659720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ilkap
|
Ensembl Gene |
ENSMUSG00000026309 |
Gene Name |
integrin-linked kinase-associated serine/threonine phosphatase 2C |
Synonyms |
1600009O09Rik, PP2C-DELTA, 0710007A14Rik |
MMRRC Submission |
068513-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R8548 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
91301583-91326537 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 91318882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 31
(D31E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027534]
[ENSMUST00000186986]
[ENSMUST00000187306]
[ENSMUST00000187678]
[ENSMUST00000190519]
|
AlphaFold |
Q8R0F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027534
AA Change: D31E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027534 Gene: ENSMUSG00000026309 AA Change: D31E
Domain | Start | End | E-Value | Type |
Blast:PP2C_SIG
|
26 |
64 |
4e-12 |
BLAST |
PP2Cc
|
94 |
388 |
4.47e-93 |
SMART |
PP2C_SIG
|
128 |
390 |
9.82e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186986
AA Change: D31E
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000140074 Gene: ENSMUSG00000026309 AA Change: D31E
Domain | Start | End | E-Value | Type |
Blast:PP2Cc
|
7 |
72 |
9e-24 |
BLAST |
low complexity region
|
83 |
96 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187049
AA Change: D29E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187306
AA Change: D31E
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139834 Gene: ENSMUSG00000026309 AA Change: D31E
Domain | Start | End | E-Value | Type |
Blast:PP2Cc
|
7 |
73 |
2e-24 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187678
AA Change: D31E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190519
AA Change: D31E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000140048 Gene: ENSMUSG00000026309 AA Change: D31E
Domain | Start | End | E-Value | Type |
Blast:PP2C_SIG
|
26 |
136 |
2e-36 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
T |
5: 121,658,165 (GRCm39) |
L376Q |
probably damaging |
Het |
Akirin1 |
A |
G |
4: 123,631,831 (GRCm39) |
M179T |
possibly damaging |
Het |
Ap5b1 |
G |
T |
19: 5,621,123 (GRCm39) |
V848L |
possibly damaging |
Het |
Apoa2 |
T |
A |
1: 171,053,798 (GRCm39) |
M91K |
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Cdc20 |
A |
C |
4: 118,293,535 (GRCm39) |
S160A |
possibly damaging |
Het |
Cftr |
G |
T |
6: 18,273,698 (GRCm39) |
V839L |
possibly damaging |
Het |
Ctf1 |
A |
T |
7: 127,316,564 (GRCm39) |
H171L |
probably benign |
Het |
Dmac2 |
T |
A |
7: 25,324,217 (GRCm39) |
M225K |
probably damaging |
Het |
Dmbx1 |
A |
T |
4: 115,777,512 (GRCm39) |
V112E |
probably damaging |
Het |
Eloa |
T |
C |
4: 135,732,988 (GRCm39) |
K754R |
probably damaging |
Het |
Ern2 |
G |
A |
7: 121,777,062 (GRCm39) |
T286I |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,334,659 (GRCm39) |
D845G |
probably damaging |
Het |
Fbxl6 |
T |
A |
15: 76,421,542 (GRCm39) |
M232L |
possibly damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,400 (GRCm39) |
I125K |
probably damaging |
Het |
Hoxa2 |
G |
A |
6: 52,140,098 (GRCm39) |
T296I |
probably damaging |
Het |
Hspa8 |
A |
G |
9: 40,713,767 (GRCm39) |
M87V |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
Macc1 |
T |
A |
12: 119,414,091 (GRCm39) |
S756T |
probably benign |
Het |
Map2 |
A |
G |
1: 66,452,499 (GRCm39) |
D545G |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,854,572 (GRCm39) |
N1390D |
probably benign |
Het |
Mgat5 |
G |
A |
1: 127,248,409 (GRCm39) |
V104M |
possibly damaging |
Het |
Myoz2 |
T |
A |
3: 122,827,916 (GRCm39) |
M1L |
possibly damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,052 (GRCm39) |
K64E |
possibly damaging |
Het |
Nr6a1 |
C |
A |
2: 38,619,550 (GRCm39) |
Q448H |
probably damaging |
Het |
Nr6a1 |
T |
G |
2: 38,619,551 (GRCm39) |
Q448P |
probably damaging |
Het |
Odf2 |
T |
C |
2: 29,783,526 (GRCm39) |
|
probably null |
Het |
Or8g37 |
T |
A |
9: 39,731,537 (GRCm39) |
C201S |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,566 (GRCm39) |
N476S |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,732,268 (GRCm39) |
|
probably null |
Het |
Plxnd1 |
C |
T |
6: 115,934,558 (GRCm39) |
D1792N |
probably damaging |
Het |
Prdm11 |
C |
T |
2: 92,843,103 (GRCm39) |
V119M |
probably damaging |
Het |
Prss23 |
A |
G |
7: 89,159,416 (GRCm39) |
F218L |
probably benign |
Het |
Rflnb |
A |
G |
11: 75,913,047 (GRCm39) |
Y114H |
probably damaging |
Het |
Skor2 |
T |
A |
18: 76,946,581 (GRCm39) |
I101N |
unknown |
Het |
Sp8 |
A |
C |
12: 118,812,910 (GRCm39) |
Y255S |
possibly damaging |
Het |
Srfbp1 |
G |
A |
18: 52,621,463 (GRCm39) |
V175I |
probably benign |
Het |
Stxbp5 |
C |
T |
10: 9,693,050 (GRCm39) |
D359N |
probably null |
Het |
Thnsl1 |
A |
G |
2: 21,217,733 (GRCm39) |
I496V |
possibly damaging |
Het |
Usp32 |
G |
A |
11: 84,908,653 (GRCm39) |
P1018S |
possibly damaging |
Het |
Usp7 |
A |
T |
16: 8,529,939 (GRCm39) |
V142E |
possibly damaging |
Het |
|
Other mutations in Ilkap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02318:Ilkap
|
APN |
1 |
91,312,960 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4445001:Ilkap
|
UTSW |
1 |
91,313,067 (GRCm39) |
missense |
probably benign |
|
R0184:Ilkap
|
UTSW |
1 |
91,304,027 (GRCm39) |
unclassified |
probably benign |
|
R0782:Ilkap
|
UTSW |
1 |
91,306,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R1366:Ilkap
|
UTSW |
1 |
91,314,937 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1552:Ilkap
|
UTSW |
1 |
91,312,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R2155:Ilkap
|
UTSW |
1 |
91,312,345 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3946:Ilkap
|
UTSW |
1 |
91,314,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R4005:Ilkap
|
UTSW |
1 |
91,312,985 (GRCm39) |
missense |
probably benign |
0.03 |
R4860:Ilkap
|
UTSW |
1 |
91,315,105 (GRCm39) |
unclassified |
probably benign |
|
R5666:Ilkap
|
UTSW |
1 |
91,318,863 (GRCm39) |
missense |
probably benign |
0.38 |
R5670:Ilkap
|
UTSW |
1 |
91,318,863 (GRCm39) |
missense |
probably benign |
0.38 |
R7324:Ilkap
|
UTSW |
1 |
91,313,115 (GRCm39) |
splice site |
probably null |
|
R8493:Ilkap
|
UTSW |
1 |
91,306,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Ilkap
|
UTSW |
1 |
91,314,937 (GRCm39) |
missense |
probably benign |
0.41 |
R9230:Ilkap
|
UTSW |
1 |
91,314,937 (GRCm39) |
missense |
probably benign |
0.41 |
R9620:Ilkap
|
UTSW |
1 |
91,303,973 (GRCm39) |
missense |
|
|
R9694:Ilkap
|
UTSW |
1 |
91,303,973 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGAGGCCATGAGTTCAAAAC -3'
(R):5'- ATGGACTGTGACTGTTGGAAAC -3'
Sequencing Primer
(F):5'- GGCCATGAGTTCAAAACTTAAAAGAC -3'
(R):5'- TATAGAAAATAGCTGTCCTGACGAG -3'
|
Posted On |
2021-01-18 |