Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Ilkap'

307683

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

040827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R3946 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91301583-91326537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 91314972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 124 (D124E)

Ref Sequence

ENSEMBL: ENSMUSP00000140048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000186986] [ENSMUST00000187306] [ENSMUST00000190519] [ENSMUST00000190747] [ENSMUST00000187678]

AlphaFold

Q8R0F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027534
AA Change: D130E

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: D130E

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 damaging
Transcript: ENSMUST00000190519
AA Change: D124E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309
AA Change: D124E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189651

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: ENSMUST00000187678

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,492,913 (GRCm39)	Q328R	probably damaging	Het
Agr3	C	A	12: 35,997,512 (GRCm39)		probably benign	Het
Brca2	T	A	5: 150,460,169 (GRCm39)	S481R	probably damaging	Het
Cabin1	T	G	10: 75,581,093 (GRCm39)	Q411P	probably damaging	Het
Calr3	A	G	8: 73,197,464 (GRCm39)	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,627,111 (GRCm39)	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,190,636 (GRCm39)	T442A	probably damaging	Het
Chn2	T	C	6: 54,246,411 (GRCm39)		probably benign	Het
Cic	C	A	7: 24,971,771 (GRCm39)	R501S	possibly damaging	Het
Coch	A	G	12: 51,648,595 (GRCm39)		probably null	Het
Defa25	G	A	8: 21,574,506 (GRCm39)	V17I	probably null	Het
Dglucy	T	C	12: 100,804,959 (GRCm39)		probably null	Het
Dtx1	T	G	5: 120,819,351 (GRCm39)	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,947,341 (GRCm39)	L171P	probably benign	Het
Fam135a	A	G	1: 24,069,475 (GRCm39)	S465P	probably damaging	Het
Gm14412	A	T	2: 177,006,478 (GRCm39)	C472*	probably null	Het
Gm7104	T	C	12: 88,252,812 (GRCm39)		noncoding transcript	Het
Got2	A	G	8: 96,614,858 (GRCm39)	S26P	probably benign	Het
H2-M11	A	G	17: 36,860,123 (GRCm39)	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,272,406 (GRCm39)	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,505,771 (GRCm39)	R114L	probably damaging	Het
Maco1	A	G	4: 134,531,792 (GRCm39)	Y626H	probably damaging	Het
Med6	T	C	12: 81,628,625 (GRCm39)	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,785,932 (GRCm39)	L719*	probably null	Het
Mmp23	T	C	4: 155,736,480 (GRCm39)	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,470,760 (GRCm39)	M32T	possibly damaging	Het
Ncstn	T	C	1: 171,895,061 (GRCm39)	E614G	probably benign	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or4f15	G	A	2: 111,813,642 (GRCm39)	T259M	possibly damaging	Het
Otub2	T	A	12: 103,359,085 (GRCm39)	L58*	probably null	Het
Pcdhga12	G	A	18: 37,900,682 (GRCm39)	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,870,897 (GRCm39)	V242D	probably damaging	Het
Pex1	C	T	5: 3,676,084 (GRCm39)	L891F	probably damaging	Het
Pgm2	C	T	5: 64,269,404 (GRCm39)	T497I	probably benign	Het
Pikfyve	T	C	1: 65,235,840 (GRCm39)	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,855,654 (GRCm39)	K79T	probably benign	Het
Pin1	C	T	9: 20,566,660 (GRCm39)	R21W	probably damaging	Het
Prxl2c	T	C	13: 64,456,912 (GRCm39)	I104V	probably damaging	Het
Ptprq	A	G	10: 107,522,253 (GRCm39)		probably benign	Het
Rad17	G	A	13: 100,759,371 (GRCm39)	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,851,925 (GRCm39)	T249A	probably benign	Het
Rtkn	A	T	6: 83,112,957 (GRCm39)	I10F	probably benign	Het
Scube2	T	A	7: 109,456,797 (GRCm39)	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,423,893 (GRCm39)	H514R	probably benign	Het
Serbp1	T	A	6: 67,249,204 (GRCm39)	D223E	probably benign	Het
Slc14a1	C	A	18: 78,154,607 (GRCm39)	V260L	probably benign	Het
Slc22a23	A	G	13: 34,367,109 (GRCm39)	I633T	probably damaging	Het
Stk19	A	T	17: 35,043,723 (GRCm39)		probably benign	Het
Svs5	T	C	2: 164,079,047 (GRCm39)	M287V	probably benign	Het
Syne3	T	A	12: 104,924,325 (GRCm39)	Q358L	probably damaging	Het
Synj1	A	G	16: 90,806,984 (GRCm39)	F58L	possibly damaging	Het
Tg	T	C	15: 66,545,872 (GRCm39)	V198A	probably damaging	Het
Tle4	A	T	19: 14,574,752 (GRCm39)	Y9N	probably damaging	Het
Tmx3	G	A	18: 90,542,459 (GRCm39)	A186T	possibly damaging	Het
Traf3	G	A	12: 111,221,679 (GRCm39)	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,375,167 (GRCm39)	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,059,107 (GRCm39)	H918L	probably damaging	Het
Ush2a	T	G	1: 188,460,701 (GRCm39)	V2654G	probably benign	Het
Vinac1	A	G	2: 128,881,521 (GRCm39)	L135P	probably damaging	Het
Vmn2r25	A	G	6: 123,817,057 (GRCm39)	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,734,109 (GRCm39)	D1330G	probably 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
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'- TCTAAGATCCACTGATGCAAAAGG -3'
(R):5'- GCAGAACCCTGAATTGTGGC -3'

Sequencing Primer
(F):5'- GCAGGTTACTCATGGCGTCAG -3'
(R):5'- ACCACTGTGATGTTGCTGAGC -3'

Posted On

2015-04-17