Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Ilkap'

23911

Institutional Source

Beutler Lab

Gene Symbol

Ilkap

Ensembl Gene

ENSMUSG00000026309

Gene Name

integrin-linked kinase-associated serine/threonine phosphatase 2C

Synonyms

1600009O09Rik, 0710007A14Rik, PP2C-DELTA

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91373861-91398815 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 91376305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000086861] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190747]

AlphaFold

Q8R0F6

Predicted Effect

probably benign
Transcript: ENSMUST00000027534

SMART Domains

Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309

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: R145G

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 benign
Transcript: ENSMUST00000187678

Predicted Effect

probably benign
Transcript: ENSMUST00000190747

SMART Domains

Protein: ENSMUSP00000140905
Gene: ENSMUSG00000026309

Domain	Start	End	E-Value	Type
PP2Cc	1	164	7.3e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191230

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250 (GRCm38)	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373 (GRCm38)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056 (GRCm38)	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030 (GRCm38)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673 (GRCm38)	D46E	unknown	Het
Armc9	T	C	1: 86,198,370 (GRCm38)	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215 (GRCm38)	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841 (GRCm38)	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554 (GRCm38)	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538 (GRCm38)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395 (GRCm38)	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012 (GRCm38)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007 (GRCm38)	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791 (GRCm38)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683 (GRCm38)	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375 (GRCm38)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216 (GRCm38)	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288 (GRCm38)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673 (GRCm38)	N443I	probably benign	Het
Git2	G	A	5: 114,739,037 (GRCm38)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258 (GRCm38)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614 (GRCm38)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969 (GRCm38)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931 (GRCm38)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771 (GRCm38)		probably null	Het
Iars1	T	G	13: 49,722,212 (GRCm38)	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193 (GRCm38)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Ints13	A	T	6: 146,555,044 (GRCm38)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm38)	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231 (GRCm38)	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058 (GRCm38)	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749 (GRCm38)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884 (GRCm38)	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442 (GRCm38)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971 (GRCm38)	R604L	probably benign	Het
Or52p1	T	C	7: 104,618,240 (GRCm38)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,224,780 (GRCm38)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,343,390 (GRCm38)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128 (GRCm38)	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367 (GRCm38)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220 (GRCm38)	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127 (GRCm38)	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715 (GRCm38)	V231M	probably benign	Het
Poli	A	G	18: 70,522,731 (GRCm38)	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552 (GRCm38)	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976 (GRCm38)	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566 (GRCm38)		probably null	Het
Rln1	T	A	19: 29,331,936 (GRCm38)	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521 (GRCm38)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093 (GRCm38)	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672 (GRCm38)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189 (GRCm38)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249 (GRCm38)	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198 (GRCm38)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574 (GRCm38)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562 (GRCm38)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300 (GRCm38)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964 (GRCm38)	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194 (GRCm38)	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640 (GRCm38)	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417 (GRCm38)	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067 (GRCm38)		probably null	Het
Ubr4	A	C	4: 139,445,262 (GRCm38)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581 (GRCm38)	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618 (GRCm38)	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338 (GRCm38)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877 (GRCm38)	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046 (GRCm38)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685 (GRCm38)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513 (GRCm38)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm38)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm38)	I253T	probably damaging	Het

Other mutations in Ilkap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Ilkap	APN	1	91,385,238 (GRCm38)	critical splice donor site	probably null
PIT4445001:Ilkap	UTSW	1	91,385,345 (GRCm38)	missense	probably benign
R0782:Ilkap	UTSW	1	91,378,550 (GRCm38)	missense	probably damaging	1.00
R1366:Ilkap	UTSW	1	91,387,215 (GRCm38)	missense	possibly damaging	0.58
R1552:Ilkap	UTSW	1	91,384,594 (GRCm38)	missense	probably damaging	1.00
R2155:Ilkap	UTSW	1	91,384,623 (GRCm38)	missense	possibly damaging	0.65
R3946:Ilkap	UTSW	1	91,387,250 (GRCm38)	missense	probably damaging	1.00
R4005:Ilkap	UTSW	1	91,385,263 (GRCm38)	missense	probably benign	0.03
R4860:Ilkap	UTSW	1	91,387,383 (GRCm38)	unclassified	probably benign
R5666:Ilkap	UTSW	1	91,391,141 (GRCm38)	missense	probably benign	0.38
R5670:Ilkap	UTSW	1	91,391,141 (GRCm38)	missense	probably benign	0.38
R7324:Ilkap	UTSW	1	91,385,393 (GRCm38)	splice site	probably null
R8493:Ilkap	UTSW	1	91,378,544 (GRCm38)	missense	probably damaging	1.00
R8548:Ilkap	UTSW	1	91,391,160 (GRCm38)	missense	possibly damaging	0.81
R9227:Ilkap	UTSW	1	91,387,215 (GRCm38)	missense	probably benign	0.41
R9230:Ilkap	UTSW	1	91,387,215 (GRCm38)	missense	probably benign	0.41
R9620:Ilkap	UTSW	1	91,376,251 (GRCm38)	missense
R9694:Ilkap	UTSW	1	91,376,251 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- CCTGCTCTGTCCCTAACAAAGACTG -3'
(R):5'- TGGGTCTGTTGAGACAACTTGCC -3'

Sequencing Primer
(F):5'- GTCCCTAACAAAGACTGGCAGG -3'
(R):5'- aatgacccctctctacctcc -3'

Posted On

2013-04-16