Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00848:Pak1ip1'

12899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pak1ip1

Ensembl Gene

ENSMUSG00000038683

Gene Name

PAK1 interacting protein 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

41154499-41166491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41166099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 341 (E341D)

Ref Sequence

ENSEMBL: ENSMUSP00000040846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021790] [ENSMUST00000046951]

AlphaFold

Q9DCE5

Predicted Effect

probably benign
Transcript: ENSMUST00000021790

SMART Domains

Protein: ENSMUSP00000021790
Gene: ENSMUSG00000021361

Domain	Start	End	E-Value	Type
Pfam:Tmemb_14	13	104	1.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046951
AA Change: E341D

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: E341D

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,370,237 (GRCm39)	F508L	probably damaging	Het
Adgra3	C	T	5: 50,159,291 (GRCm39)	G320R	probably damaging	Het
Arhgef40	G	A	14: 52,224,884 (GRCm39)	V10M	probably damaging	Het
Birc6	C	T	17: 75,003,388 (GRCm39)	Q4739*	probably null	Het
Cdcp3	A	G	7: 130,848,453 (GRCm39)	E869G	probably damaging	Het
Cdh20	C	T	1: 104,861,981 (GRCm39)	H54Y	probably benign	Het
Cep112	A	G	11: 108,362,886 (GRCm39)	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,758,970 (GRCm39)	T27S	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Copa	T	A	1: 171,938,255 (GRCm39)	C523S	possibly damaging	Het
Copz1	T	A	15: 103,207,176 (GRCm39)		probably benign	Het
Crybg1	A	C	10: 43,843,814 (GRCm39)		probably null	Het
Cyp3a11	A	T	5: 145,799,275 (GRCm39)	I304N	probably damaging	Het
Eif2d	C	T	1: 131,092,173 (GRCm39)	Q315*	probably null	Het
Fgfr4	A	G	13: 55,306,983 (GRCm39)	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,505,658 (GRCm39)	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,497,999 (GRCm39)		probably null	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Hrnr	A	T	3: 93,230,204 (GRCm39)	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184 (GRCm39)	S519R	probably damaging	Het
Kcnv1	A	G	15: 44,976,624 (GRCm39)	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,511,833 (GRCm39)	A266V	probably benign	Het
Lmtk2	A	G	5: 144,113,216 (GRCm39)	E1312G	probably benign	Het
Mos	T	C	4: 3,871,459 (GRCm39)	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717 (GRCm39)	H132Y	probably benign	Het
Myo18b	G	A	5: 113,019,351 (GRCm39)	T642I	probably damaging	Het
Myo5c	A	G	9: 75,196,463 (GRCm39)	E1303G	probably benign	Het
Napepld	A	T	5: 21,888,191 (GRCm39)	M86K	probably benign	Het
Nvl	T	A	1: 180,932,690 (GRCm39)	D709V	probably damaging	Het
Pgghg	G	A	7: 140,522,317 (GRCm39)	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,303,985 (GRCm39)	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,267,178 (GRCm39)	T697M	probably damaging	Het
Piwil4	T	G	9: 14,638,707 (GRCm39)	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,180,718 (GRCm39)		probably benign	Het
Polr3b	A	G	10: 84,516,241 (GRCm39)	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,875 (GRCm39)	T317A	probably benign	Het
Prune2	A	T	19: 17,096,482 (GRCm39)	K662I	probably damaging	Het
Ptger4	T	C	15: 5,264,589 (GRCm39)	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,318,165 (GRCm39)	L16P	possibly damaging	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,578,596 (GRCm39)	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,685,266 (GRCm39)	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,193,059 (GRCm39)	V565M	probably benign	Het
Spns1	T	C	7: 125,970,414 (GRCm39)		probably null	Het
Stk3	T	A	15: 35,114,768 (GRCm39)	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,098,021 (GRCm39)	E100G	probably damaging	Het
Tjp1	T	C	7: 64,952,942 (GRCm39)	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,335,096 (GRCm39)	S69P	probably benign	Het
Usp32	T	C	11: 84,942,007 (GRCm39)		probably benign	Het
Vps45	G	T	3: 95,964,285 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,343,208 (GRCm39)	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,630,299 (GRCm39)	S21T	possibly damaging	Het

Other mutations in Pak1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Pak1ip1	APN	13	41,161,494 (GRCm39)	missense	possibly damaging	0.66
IGL02327:Pak1ip1	APN	13	41,165,893 (GRCm39)	missense	probably benign
R0383:Pak1ip1	UTSW	13	41,166,080 (GRCm39)	missense	probably benign	0.00
R1706:Pak1ip1	UTSW	13	41,166,164 (GRCm39)	missense	probably benign	0.00
R1851:Pak1ip1	UTSW	13	41,164,708 (GRCm39)	missense	possibly damaging	0.90
R1852:Pak1ip1	UTSW	13	41,164,708 (GRCm39)	missense	possibly damaging	0.90
R4255:Pak1ip1	UTSW	13	41,164,632 (GRCm39)	intron	probably benign
R4326:Pak1ip1	UTSW	13	41,158,232 (GRCm39)	missense	possibly damaging	0.82
R5062:Pak1ip1	UTSW	13	41,161,621 (GRCm39)	splice site	probably benign
R5929:Pak1ip1	UTSW	13	41,158,276 (GRCm39)	missense	probably benign	0.42
R6101:Pak1ip1	UTSW	13	41,158,361 (GRCm39)	missense	probably damaging	1.00
R6105:Pak1ip1	UTSW	13	41,158,361 (GRCm39)	missense	probably damaging	1.00
R6198:Pak1ip1	UTSW	13	41,154,886 (GRCm39)	missense	probably benign
R7179:Pak1ip1	UTSW	13	41,163,018 (GRCm39)	missense	probably damaging	0.97
R7367:Pak1ip1	UTSW	13	41,162,371 (GRCm39)	missense	probably damaging	1.00
R7487:Pak1ip1	UTSW	13	41,162,731 (GRCm39)	missense	probably benign	0.01
R8217:Pak1ip1	UTSW	13	41,166,126 (GRCm39)	missense	probably benign	0.34
R8343:Pak1ip1	UTSW	13	41,158,214 (GRCm39)	missense	probably benign
R8507:Pak1ip1	UTSW	13	41,162,770 (GRCm39)	missense	probably benign
R9269:Pak1ip1	UTSW	13	41,162,727 (GRCm39)	missense	probably benign	0.00
R9746:Pak1ip1	UTSW	13	41,162,743 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06