Mutagenetix > Incidental Mutation

Incidental Mutation 'R1852:Pak1ip1'

208249

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

039876-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41001023-41013015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41011232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 264 (T264A)

Ref Sequence

ENSEMBL: ENSMUSP00000040846 (fasta)

Gene Model

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

AlphaFold

Q9DCE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046951
AA Change: T264A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: T264A

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,268,473	D499G	probably damaging	Het
2900092C05Rik	A	G	7: 12,512,702		probably null	Het
4930433I11Rik	T	A	7: 40,993,613	D326E	probably benign	Het
A530032D15Rik	G	A	1: 85,085,131		probably benign	Het
Abca8a	T	C	11: 110,069,386	D676G	probably damaging	Het
Abcb7	T	C	X: 104,305,399	M153V	probably benign	Het
Ablim3	G	A	18: 61,849,395	H160Y	probably benign	Het
Acsl6	T	C	11: 54,361,076	I683T	probably damaging	Het
Adgrg5	A	T	8: 94,937,800	Y345F	probably damaging	Het
Alg6	T	G	4: 99,746,362	F114V	probably benign	Het
Ank2	A	C	3: 126,997,851		probably null	Het
Ankrd24	A	T	10: 81,642,941		probably benign	Het
Ano8	T	C	8: 71,483,487	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,275,185	S957P	probably benign	Het
Bmpr1b	A	T	3: 141,857,402		probably null	Het
C3	A	G	17: 57,222,823	V2A	probably damaging	Het
Capn1	A	G	19: 6,009,103	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,921,673	E85G	probably damaging	Het
Chil3	C	T	3: 106,148,801		probably null	Het
Chl1	A	T	6: 103,699,159		probably null	Het
Chodl	C	T	16: 78,941,258	P38L	probably benign	Het
Clec4a2	G	T	6: 123,139,125	E124*	probably null	Het
Cmtr1	T	C	17: 29,702,255	V825A	probably benign	Het
Cnksr3	T	C	10: 7,120,539	I232V	probably benign	Het
Cntn1	C	T	15: 92,305,140	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278		probably null	Het
Col6a3	T	A	1: 90,807,534	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 116,478,061	L223*	probably null	Het
Cul1	A	G	6: 47,520,830	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,159,279	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,617,367	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,653,865		probably benign	Het
Ddx49	T	C	8: 70,300,983	T79A	probably damaging	Het
Defb46	T	A	8: 19,239,975		probably null	Het
Dnah17	T	A	11: 118,121,916	I145F	probably damaging	Het
Dock8	A	T	19: 25,127,128	I725F	probably benign	Het
Dppa4	G	A	16: 48,287,884	A11T	probably damaging	Het
Enam	T	A	5: 88,504,465	S1278T	possibly damaging	Het
Fndc3a	A	G	14: 72,556,843	V829A	probably damaging	Het
Gatb	T	G	3: 85,618,877	L354R	probably damaging	Het
Gm10787	A	T	10: 77,021,877		noncoding transcript	Het
Gm13084	T	C	4: 143,812,826	I32M	probably benign	Het
Gsap	T	A	5: 21,290,545		probably null	Het
Gtf2ird1	T	C	5: 134,382,580		probably null	Het
Has3	A	T	8: 106,874,079	I58F	probably damaging	Het
Haus5	A	T	7: 30,658,501		probably null	Het
Hip1r	T	C	5: 123,991,505	V169A	probably benign	Het
Hnf1a	T	A	5: 114,970,711	D45V	probably damaging	Het
Il20ra	T	A	10: 19,743,019	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,812,257	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,386,706	L763P	probably damaging	Het
Katnal2	C	A	18: 77,016,023	R104L	probably benign	Het
Kcng4	G	T	8: 119,626,208	P321Q	probably benign	Het
Larp4b	T	C	13: 9,137,303		probably null	Het
Lars	T	C	18: 42,212,608	N1001S	probably benign	Het
Lhcgr	T	A	17: 88,765,176	I148F	probably damaging	Het
Lsm10	T	A	4: 126,097,963	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,372,180		probably null	Het
Mipep	T	A	14: 60,843,240	C560*	probably null	Het
Mme	A	G	3: 63,327,983	S97G	probably benign	Het
Mme	G	A	3: 63,328,046	D172N	probably benign	Het
Mx1	A	T	16: 97,448,203	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,851,661	M208T	probably benign	Het
Neb	T	C	2: 52,228,542	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,423,978		probably null	Het
Neto1	T	C	18: 86,395,884	M1T	probably null	Het
Nom1	T	C	5: 29,446,878	F738S	possibly damaging	Het
Olfr1137	T	C	2: 87,710,973		probably null	Het
Olfr1160	T	G	2: 88,006,521	I86L	probably damaging	Het
Olfr1314	C	A	2: 112,091,847	V285L	probably benign	Het
Olfr1420	C	A	19: 11,896,885	P288H	probably damaging	Het
Olfr1487	C	T	19: 13,619,603	S147F	probably damaging	Het
Olfr523	T	A	7: 140,176,561	L147*	probably null	Het
Olfr572	C	T	7: 102,928,441	S271L	probably damaging	Het
Olfr772	T	C	10: 129,174,328	K231R	probably benign	Het
Palb2	G	T	7: 122,114,314	D915E	possibly damaging	Het
Pank4	T	C	4: 154,976,359	L491P	probably damaging	Het
Paqr7	T	C	4: 134,507,669	V279A	probably benign	Het
Pcif1	G	A	2: 164,888,466	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,979,172	N185I	probably benign	Het
Plcd4	T	C	1: 74,549,361	V123A	possibly damaging	Het
Prune2	A	G	19: 17,199,139	I154V	probably damaging	Het
Rac3	T	G	11: 120,723,494	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,642,811	D362E	probably benign	Het
Rbl1	A	G	2: 157,174,903	I592T	probably benign	Het
Rbl2	A	C	8: 91,095,563	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,146,675	K416E	probably benign	Het
Rorb	A	T	19: 18,962,083	L234H	probably damaging	Het
Rpp40	T	G	13: 35,896,914	D279A	probably benign	Het
Siglec1	C	A	2: 131,081,500	V442L	probably damaging	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Skiv2l2	A	T	13: 112,872,927	H979Q	probably benign	Het
Slc25a34	G	A	4: 141,622,268	T192I	probably benign	Het
Sptbn5	T	C	2: 120,071,644	I126M	possibly damaging	Het
Strada	A	G	11: 106,171,221	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Tcrg-C3	A	T	13: 19,261,091	M70L	probably damaging	Het
Tgm1	T	C	14: 55,704,941	Y651C	probably damaging	Het
Tmem200c	T	A	17: 68,840,617	V65E	probably damaging	Het
Tmem74	A	T	15: 43,867,163	D161E	probably benign	Het
Vcan	T	G	13: 89,705,392	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,063,174	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,259,394	I772S	probably damaging	Het
Wdfy3	A	G	5: 101,915,376	V1342A	probably benign	Het
Zfp507	T	C	7: 35,787,751	H764R	probably damaging	Het
Znrf3	A	G	11: 5,287,455	I218T	possibly damaging	Het

Other mutations in Pak1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Pak1ip1	APN	13	41008018	missense	possibly damaging	0.66
IGL00848:Pak1ip1	APN	13	41012623	missense	probably benign	0.18
IGL02327:Pak1ip1	APN	13	41012417	missense	probably benign
R0383:Pak1ip1	UTSW	13	41012604	missense	probably benign	0.00
R1706:Pak1ip1	UTSW	13	41012688	missense	probably benign	0.00
R1851:Pak1ip1	UTSW	13	41011232	missense	possibly damaging	0.90
R4255:Pak1ip1	UTSW	13	41011156	intron	probably benign
R4326:Pak1ip1	UTSW	13	41004756	missense	possibly damaging	0.82
R5062:Pak1ip1	UTSW	13	41008145	splice site	probably benign
R5929:Pak1ip1	UTSW	13	41004800	missense	probably benign	0.42
R6101:Pak1ip1	UTSW	13	41004885	missense	probably damaging	1.00
R6105:Pak1ip1	UTSW	13	41004885	missense	probably damaging	1.00
R6198:Pak1ip1	UTSW	13	41001410	missense	probably benign
R7179:Pak1ip1	UTSW	13	41009542	missense	probably damaging	0.97
R7367:Pak1ip1	UTSW	13	41008895	missense	probably damaging	1.00
R7487:Pak1ip1	UTSW	13	41009255	missense	probably benign	0.01
R8217:Pak1ip1	UTSW	13	41012650	missense	probably benign	0.34
R8343:Pak1ip1	UTSW	13	41004738	missense	probably benign
R8507:Pak1ip1	UTSW	13	41009294	missense	probably benign
R9269:Pak1ip1	UTSW	13	41009251	missense	probably benign	0.00
R9746:Pak1ip1	UTSW	13	41009267	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCAGTGGGCATATGCAGC -3'
(R):5'- CTTCACATCTCTAACACAGGTTATG -3'

Sequencing Primer
(F):5'- AAGTGCAAGAGACTGTTG -3'
(R):5'- ACATCTCTAACACAGGTTATGACTAG -3'

Posted On

2014-06-23