Mutagenetix > Incidental Mutation

Incidental Mutation 'R5670:Ilkap'

442544

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

043313-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R5670 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91373861-91398815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91391141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

Ref Sequence

ENSEMBL: ENSMUSP00000140074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000186986] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190519]

AlphaFold

Q8R0F6

Predicted Effect

probably benign
Transcript: ENSMUST00000027534
AA Change: T38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: T38A

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

noncoding transcript
Transcript: ENSMUST00000186433

Predicted Effect

probably benign
Transcript: ENSMUST00000186986
AA Change: T38A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140074
Gene: ENSMUSG00000026309
AA Change: T38A

Domain	Start	End	E-Value	Type
Blast:PP2Cc	7	72	9e-24	BLAST
low complexity region	83	96	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000187049
AA Change: T36A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187105

Predicted Effect

probably benign
Transcript: ENSMUST00000187306
AA Change: T38A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139834
Gene: ENSMUSG00000026309
AA Change: T38A

Domain	Start	End	E-Value	Type
Blast:PP2Cc	7	73	2e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000187678
AA Change: T38A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189651

Predicted Effect

probably benign
Transcript: ENSMUST00000190519
AA Change: T38A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309
AA Change: T38A

Domain	Start	End	E-Value	Type
Blast:PP2C_SIG	26	136	2e-36	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191230

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Ahsg	T	A	16: 22,898,163	N158K	probably benign	Het
Arhgef10	T	C	8: 14,954,774	M430T	probably benign	Het
Bmper	T	A	9: 23,473,463	M588K	probably damaging	Het
Btla	A	T	16: 45,250,419	D247V	probably damaging	Het
C87977	A	G	4: 144,209,622	S23P	probably benign	Het
Cap2	T	A	13: 46,531,083		probably null	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Col4a4	A	G	1: 82,485,579		probably null	Het
Copg1	C	T	6: 87,912,235	T853M	probably damaging	Het
Ddb2	C	T	2: 91,212,581	V353M	probably damaging	Het
Dip2b	A	G	15: 100,190,104	D973G	possibly damaging	Het
Dscam	G	A	16: 96,718,164	T791I	probably benign	Het
Dtd2	T	A	12: 51,999,860	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,622,482	P1175S	probably benign	Het
Fzd6	A	T	15: 39,031,115	R225S	probably benign	Het
Glce	A	G	9: 62,060,511	S453P	probably damaging	Het
Gm38100	C	T	1: 175,921,613	T415M	probably damaging	Het
Gm4787	G	A	12: 81,378,031	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,356,149	T25I	probably benign	Het
Ikzf2	A	G	1: 69,577,900	V96A	probably benign	Het
Lpin3	A	G	2: 160,897,330	T353A	probably benign	Het
Mfsd8	A	T	3: 40,822,049	N389K	probably benign	Het
Mttp	A	T	3: 138,125,113	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,677,118	T213A	probably benign	Het
Nkain4	A	G	2: 180,943,202	L73P	probably damaging	Het
Nwd1	T	A	8: 72,693,117	S977T	probably damaging	Het
Olfr1271	T	C	2: 90,265,964	I155M	probably benign	Het
Olfr1389	T	G	11: 49,431,208	L244R	probably damaging	Het
Olfr173	G	A	16: 58,797,061	P262S	possibly damaging	Het
Olfr365	T	A	2: 37,201,994	V251D	probably benign	Het
Pdgfra	T	C	5: 75,173,495	S410P	probably benign	Het
Phldb1	T	C	9: 44,715,781	M456V	probably damaging	Het
Pi16	C	T	17: 29,326,896	T216I	probably damaging	Het
Plekha2	C	A	8: 25,059,238	A177S	probably benign	Het
Prss16	C	T	13: 22,003,051	V450I	possibly damaging	Het
Rab3gap2	C	T	1: 185,221,899	P56L	probably benign	Het
Rab3gap2	T	A	1: 185,277,205	L1086H	probably damaging	Het
Rgs21	A	G	1: 144,536,942	V48A	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf213	A	G	11: 119,434,686		probably null	Het
Slc4a2	G	T	5: 24,434,838	V506L	probably damaging	Het
Sptbn5	C	G	2: 120,085,567		probably benign	Het
Steap2	C	T	5: 5,673,681	V400I	probably benign	Het
Syne2	G	A	12: 75,950,959	G2236D	probably benign	Het
Tespa1	T	C	10: 130,354,755	S84P	probably damaging	Het
Tlx2	G	A	6: 83,069,826	A85V	possibly damaging	Het
Tm4sf1	A	T	3: 57,293,087	F65I	probably benign	Het
Tmprss13	A	G	9: 45,344,955	I456V	probably damaging	Het
Tpte	C	T	8: 22,327,748	S250F	probably damaging	Het
Trim24	T	C	6: 37,965,601	F946S	probably benign	Het
Vmn2r10	A	T	5: 108,999,044	Y459*	probably null	Het
Vps54	T	A	11: 21,264,864	I112N	probably damaging	Het
Vwa1	A	G	4: 155,774,465	L13P	probably damaging	Het
Zfp648	C	A	1: 154,204,217	Q41K	probably benign	Het

Other mutations in Ilkap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Ilkap	APN	1	91385238	critical splice donor site	probably null
PIT4445001:Ilkap	UTSW	1	91385345	missense	probably benign
R0184:Ilkap	UTSW	1	91376305	unclassified	probably benign
R0782:Ilkap	UTSW	1	91378550	missense	probably damaging	1.00
R1366:Ilkap	UTSW	1	91387215	missense	possibly damaging	0.58
R1552:Ilkap	UTSW	1	91384594	missense	probably damaging	1.00
R2155:Ilkap	UTSW	1	91384623	missense	possibly damaging	0.65
R3946:Ilkap	UTSW	1	91387250	missense	probably damaging	1.00
R4005:Ilkap	UTSW	1	91385263	missense	probably benign	0.03
R4860:Ilkap	UTSW	1	91387383	unclassified	probably benign
R5666:Ilkap	UTSW	1	91391141	missense	probably benign	0.38
R7324:Ilkap	UTSW	1	91385393	splice site	probably null
R8493:Ilkap	UTSW	1	91378544	missense	probably damaging	1.00
R8548:Ilkap	UTSW	1	91391160	missense	possibly damaging	0.81
R9227:Ilkap	UTSW	1	91387215	missense	probably benign	0.41
R9230:Ilkap	UTSW	1	91387215	missense	probably benign	0.41
R9620:Ilkap	UTSW	1	91376251	missense
R9694:Ilkap	UTSW	1	91376251	missense

Predicted Primers

PCR Primer
(F):5'- AGGTCTTTCTGCCTTACCTGAG -3'
(R):5'- ATAGAAAATAGCTGTCCTGACGAG -3'

Sequencing Primer
(F):5'- TTACCTGAGGCCATGAGTTCAAAAC -3'
(R):5'- GGTGTGTTCCCTGTAGAA -3'

Posted On

2016-11-09