Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Ilkap'

380140

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

042471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91373861-91398815 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 91387383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140905 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000186433

Predicted Effect

probably benign
Transcript: ENSMUST00000186986

SMART Domains

Protein: ENSMUSP00000140074
Gene: ENSMUSG00000026309

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187105

Predicted Effect

probably benign
Transcript: ENSMUST00000187231

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

noncoding transcript
Transcript: ENSMUST00000189651

Predicted Effect

probably benign
Transcript: ENSMUST00000190519

SMART Domains

Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309

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

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

noncoding transcript
Transcript: ENSMUST00000191230

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Akap9	G	A	5: 4,034,916		probably benign	Het
Akr1d1	G	A	6: 37,564,491	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167	E731G	probably damaging	Het
Cul1	G	T	6: 47,517,146	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500	Q126R	probably benign	Het
Dnd1	C	T	18: 36,765,963		probably benign	Het
Dok2	T	C	14: 70,777,516	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469		probably null	Het
Fcho1	C	T	8: 71,710,481	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508	Y130*	probably null	Het
Grm6	C	T	11: 50,864,612	T857M	probably benign	Het
Gvin1	A	T	7: 106,163,436	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842	D586G	probably damaging	Het
Klhl22	G	A	16: 17,777,016		silent	Het
Klhl25	T	C	7: 75,867,050	I568T	probably benign	Het
Krr1	C	T	10: 111,985,691		probably benign	Het
Larp6	A	G	9: 60,737,810	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,635,194	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,533,591		probably benign	Het
Nubp2	A	G	17: 24,884,456	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,544,053		probably benign	Het
Pkhd1l1	T	C	15: 44,537,378	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606	N177K	probably benign	Het
Reln	A	G	5: 21,901,751	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504	V39A	probably benign	Het
Snapc3	C	T	4: 83,464,897		probably benign	Het
Sorbs1	T	C	19: 40,337,005	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474	T586A	probably benign	Het
Tango2	A	G	16: 18,310,901		silent	Het
Tbce	T	A	13: 14,019,795	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Tle4	A	T	19: 14,464,345	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055		probably benign	Het
Tubgcp3	T	C	8: 12,649,722	K377R	probably benign	Het
Ulk4	G	A	9: 121,250,902	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,553,275	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,385,843	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,030,930		silent	Het
Zfp870	A	T	17: 32,883,340	C339*	probably null	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
R5666:Ilkap	UTSW	1	91391141	missense	probably benign	0.38
R5670: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'- CAGGCTTGCTGGACTGTAAAC -3'
(R):5'- TTAGTGTGAGGCAGCGCTTC -3'

Sequencing Primer
(F):5'- CTTGCTGGACTGTAAACACTCACATG -3'
(R):5'- AGGCAGCGCTTCTTTGAC -3'

Posted On

2016-04-15