Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Pak1ip1'

386708

Institutional Source

Beutler Lab

Gene Symbol

Pak1ip1

Ensembl Gene

ENSMUSG00000038683

Gene Name

PAK1 interacting protein 1

Synonyms

5830431I15Rik, Gdpd1, 5930415H02Rik, p21-activated protein kinase-interacting protein 1, PIP1

MMRRC Submission

042652-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41001023-41013015 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 41008145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046951]

AlphaFold

Q9DCE5

Predicted Effect

probably benign
Transcript: ENSMUST00000046951

SMART Domains

Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683

Domain	Start	End	E-Value	Type
WD40	29	68	6.89e-3	SMART
WD40	71	109	1.19e-6	SMART
WD40	112	151	1.59e-7	SMART
Blast:WD40	156	190	4e-10	BLAST
WD40	194	231	3.45e-1	SMART
WD40	234	275	6.89e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174551

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit median orofacial clefting, developmental delay and death around E14. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,177,066 (GRCm38)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,392,106 (GRCm38)	K173N	probably damaging	Het
Artn	A	T	4: 117,927,676 (GRCm38)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,522,718 (GRCm38)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,074,183 (GRCm38)	M420K	probably benign	Het
Bcam	T	A	7: 19,760,101 (GRCm38)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,269,272 (GRCm38)		probably benign	Het
Ccdc137	A	G	11: 120,462,515 (GRCm38)		probably benign	Het
Cd177	C	A	7: 24,744,316 (GRCm38)	A786S	probably benign	Het
Cdca4	T	C	12: 112,821,863 (GRCm38)	N82D	probably benign	Het
Clu	A	C	14: 65,979,728 (GRCm38)	T337P	probably damaging	Het
Col6a3	A	C	1: 90,779,352 (GRCm38)	I2013S	unknown	Het
Cpne9	T	A	6: 113,304,488 (GRCm38)	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,898,899 (GRCm38)	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,944,646 (GRCm38)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,075,893 (GRCm38)	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,366,749 (GRCm38)	Y312S	probably damaging	Het
Fshr	A	T	17: 88,986,046 (GRCm38)	C401*	probably null	Het
Glyat	A	C	19: 12,650,263 (GRCm38)	Q74P	probably damaging	Het
Gm6158	A	T	14: 24,070,090 (GRCm38)		noncoding transcript	Het
Grm7	A	G	6: 110,646,136 (GRCm38)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,879 (GRCm38)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,855,760 (GRCm38)	Q137*	probably null	Het
Kctd3	A	C	1: 188,995,693 (GRCm38)		probably benign	Het
Klhl30	A	G	1: 91,355,578 (GRCm38)	T301A	probably benign	Het
Klra9	T	C	6: 130,179,109 (GRCm38)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,905,667 (GRCm38)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,410,830 (GRCm38)		probably null	Het
Limch1	C	T	5: 66,969,235 (GRCm38)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,070,500 (GRCm38)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,339,281 (GRCm38)	L237P	probably damaging	Het
Mknk2	G	A	10: 80,671,769 (GRCm38)	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,502,928 (GRCm38)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257 (GRCm38)		probably null	Het
Nae1	A	T	8: 104,516,702 (GRCm38)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,259,333 (GRCm38)	M1321T	probably damaging	Het
Neb	A	C	2: 52,280,501 (GRCm38)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,738,273 (GRCm38)	V64I	probably benign	Het
Nisch	T	A	14: 31,172,440 (GRCm38)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,435,910 (GRCm38)	R1009*	probably null	Het
Or12d13	A	T	17: 37,336,931 (GRCm38)	H100Q	probably damaging	Het
Or4k15	T	A	14: 50,127,437 (GRCm38)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pcm1	T	C	8: 41,259,260 (GRCm38)	V189A	probably damaging	Het
Peak1	G	T	9: 56,260,289 (GRCm38)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,328,339 (GRCm38)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,309,397 (GRCm38)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,585,711 (GRCm38)	C199W	probably benign	Het
Plat	A	G	8: 22,772,311 (GRCm38)	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,688,461 (GRCm38)	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,237,282 (GRCm38)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,700,354 (GRCm38)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,552,978 (GRCm38)		probably null	Het
Sharpin	T	C	15: 76,347,611 (GRCm38)		probably benign	Het
Slamf6	A	G	1: 171,936,533 (GRCm38)	I164M	possibly damaging	Het
Slco1a7	A	C	6: 141,767,454 (GRCm38)	M67R	possibly damaging	Het
Spef1	A	G	2: 131,173,281 (GRCm38)	Y46H	probably damaging	Het
Spns1	G	A	7: 126,374,329 (GRCm38)		probably benign	Het
Supt5	C	T	7: 28,329,015 (GRCm38)		probably null	Het
Tbx5	T	A	5: 119,836,922 (GRCm38)	D3E	probably damaging	Het
Thbs1	T	C	2: 118,121,237 (GRCm38)		probably null	Het
Tmem140	G	A	6: 34,872,962 (GRCm38)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,993,915 (GRCm38)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,922,537 (GRCm38)	D256G	probably damaging	Het
Tns1	A	T	1: 73,952,864 (GRCm38)	L885Q	probably damaging	Het
Umod	G	A	7: 119,472,421 (GRCm38)	Q366*	probably null	Het
Vsir	A	G	10: 60,364,263 (GRCm38)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,880,499 (GRCm38)	R616H	probably damaging	Het

Other mutations in Pak1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Pak1ip1	APN	13	41,008,018 (GRCm38)	missense	possibly damaging	0.66
IGL00848:Pak1ip1	APN	13	41,012,623 (GRCm38)	missense	probably benign	0.18
IGL02327:Pak1ip1	APN	13	41,012,417 (GRCm38)	missense	probably benign
R0383:Pak1ip1	UTSW	13	41,012,604 (GRCm38)	missense	probably benign	0.00
R1706:Pak1ip1	UTSW	13	41,012,688 (GRCm38)	missense	probably benign	0.00
R1851:Pak1ip1	UTSW	13	41,011,232 (GRCm38)	missense	possibly damaging	0.90
R1852:Pak1ip1	UTSW	13	41,011,232 (GRCm38)	missense	possibly damaging	0.90
R4255:Pak1ip1	UTSW	13	41,011,156 (GRCm38)	intron	probably benign
R4326:Pak1ip1	UTSW	13	41,004,756 (GRCm38)	missense	possibly damaging	0.82
R5929:Pak1ip1	UTSW	13	41,004,800 (GRCm38)	missense	probably benign	0.42
R6101:Pak1ip1	UTSW	13	41,004,885 (GRCm38)	missense	probably damaging	1.00
R6105:Pak1ip1	UTSW	13	41,004,885 (GRCm38)	missense	probably damaging	1.00
R6198:Pak1ip1	UTSW	13	41,001,410 (GRCm38)	missense	probably benign
R7179:Pak1ip1	UTSW	13	41,009,542 (GRCm38)	missense	probably damaging	0.97
R7367:Pak1ip1	UTSW	13	41,008,895 (GRCm38)	missense	probably damaging	1.00
R7487:Pak1ip1	UTSW	13	41,009,255 (GRCm38)	missense	probably benign	0.01
R8217:Pak1ip1	UTSW	13	41,012,650 (GRCm38)	missense	probably benign	0.34
R8343:Pak1ip1	UTSW	13	41,004,738 (GRCm38)	missense	probably benign
R8507:Pak1ip1	UTSW	13	41,009,294 (GRCm38)	missense	probably benign
R9269:Pak1ip1	UTSW	13	41,009,251 (GRCm38)	missense	probably benign	0.00
R9746:Pak1ip1	UTSW	13	41,009,267 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGCTTCCAGTAATTTTGC -3'
(R):5'- ACTTCGGCTCTACACGGAAATG -3'

Sequencing Primer
(F):5'- GAGCTTCCAGTAATTTTGCCTGTC -3'
(R):5'- CTCTACACGGAAATGGTAGTATGTTG -3'

Posted On

2016-06-06