Incidental Mutation 'R0782:Ilkap'
| ID |
76666 |
| 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 |
038962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R0782 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91301583-91326537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91306272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 103
(R103H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027534]
[ENSMUST00000086861]
[ENSMUST00000187306]
[ENSMUST00000190747]
[ENSMUST00000187678]
|
| AlphaFold |
Q8R0F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027534
AA Change: R291H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: R291H
| 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: ENSMUST00000086861
|
| SMART Domains |
Protein: ENSMUSP00000084073
Gene: ENSMUSG00000047443
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
Blast:TNF
|
200 |
337 |
3e-25 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187105
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000187231
AA Change: R85H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187306
|
| SMART Domains |
Protein: ENSMUSP00000139834
Gene: ENSMUSG00000026309
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PP2Cc
|
7 |
73 |
2e-24 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190747
AA Change: R103H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140905
Gene: ENSMUSG00000026309
AA Change: R103H
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
1 |
164 |
7.3e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187678
|
| Meta Mutation Damage Score |
0.9558 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
| B3glct |
C |
T |
5: 149,650,275 (GRCm39) |
T126M |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
| Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
| Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,982,269 (GRCm39) |
H90R |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
| Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,213 (GRCm39) |
R164C |
probably damaging |
Het |
| Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
| Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,177 (GRCm39) |
I308V |
probably benign |
Het |
| Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
| Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
| Serping1 |
G |
A |
2: 84,597,790 (GRCm39) |
P364S |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
| Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
| Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
| Vamp5 |
T |
C |
6: 72,346,453 (GRCm39) |
S48G |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
probably benign |
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 |
|
|
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 |
|
R8548:Ilkap
|
UTSW |
1 |
91,318,882 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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'- CTGGAATGGATGCCTCTAAAGCCTC -3'
(R):5'- CAACAGTTAGGTTGGATGGTGCCC -3'
Sequencing Primer
(F):5'- TTCCTGTGATAAAGCAAGCATCC -3'
(R):5'- ggtggtggtggtgagtg -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation