Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01718:Pdzk1ip1'

105014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzk1ip1

Ensembl Gene

ENSMUSG00000028716

Gene Name

PDZK1 interacting protein 1

Synonyms

Map17, 0610007F13Rik, 2700030M23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL01718

Quality Score

Status

Chromosome

Chromosomal Location

114945905-114951091 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 114950111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030488] [ENSMUST00000106548] [ENSMUST00000171877] [ENSMUST00000177647]

AlphaFold

Q9CQH0

Predicted Effect

probably benign
Transcript: ENSMUST00000030488

SMART Domains

Protein: ENSMUSP00000030488
Gene: ENSMUSG00000028716

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106548

SMART Domains

Protein: ENSMUSP00000102158
Gene: ENSMUSG00000028716

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149245

Predicted Effect

probably benign
Transcript: ENSMUST00000171877

SMART Domains

Protein: ENSMUSP00000128118
Gene: ENSMUSG00000028716

Domain	Start	End	E-Value	Type
low complexity region	42	57	N/A	INTRINSIC
Pfam:MAP17	68	181	2.4e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177647

SMART Domains

Protein: ENSMUSP00000136049
Gene: ENSMUSG00000028716

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a3	A	G	7: 66,049,953 (GRCm39)	F422L	possibly damaging	Het
Ap2m1	T	C	16: 20,360,944 (GRCm39)		probably benign	Het
Asic1	A	G	15: 99,569,883 (GRCm39)	Y68C	probably damaging	Het
Ccdc18	A	G	5: 108,349,214 (GRCm39)	D1002G	possibly damaging	Het
Cyp2c29	A	T	19: 39,318,704 (GRCm39)	I434F	possibly damaging	Het
Diaph3	T	A	14: 86,893,774 (GRCm39)	R78S	unknown	Het
Dnase1l2	T	C	17: 24,660,690 (GRCm39)	D188G	possibly damaging	Het
Exosc9	T	C	3: 36,608,078 (GRCm39)		probably benign	Het
Fgf23	G	A	6: 127,057,436 (GRCm39)	V251I	probably benign	Het
Fndc3c1	T	C	X: 105,489,534 (GRCm39)	T296A	probably benign	Het
Gm5592	A	G	7: 40,938,617 (GRCm39)	E633G	probably damaging	Het
Gpr155	T	C	2: 73,212,576 (GRCm39)	M16V	probably benign	Het
Jakmip3	T	G	7: 138,591,121 (GRCm39)	S2A	possibly damaging	Het
Lrba	T	A	3: 86,258,555 (GRCm39)	N1347K	probably damaging	Het
Mars1	T	C	10: 127,141,707 (GRCm39)	R266G	possibly damaging	Het
Mplkipl1	A	G	19: 61,164,199 (GRCm39)	S79P	probably damaging	Het
Mrgpra1	A	T	7: 46,985,675 (GRCm39)		probably null	Het
Or7g20	T	A	9: 18,946,584 (GRCm39)	L55*	probably null	Het
Ppid	G	T	3: 79,500,986 (GRCm39)	C52F	probably damaging	Het
Reln	A	G	5: 22,152,512 (GRCm39)	I2318T	possibly damaging	Het
Rhpn2	G	A	7: 35,070,179 (GRCm39)	D146N	probably benign	Het
Tspoap1	G	T	11: 87,671,081 (GRCm39)	R1670L	possibly damaging	Het
Ttc22	G	A	4: 106,495,773 (GRCm39)	V376M	probably damaging	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Zfp609	G	A	9: 65,609,682 (GRCm39)	Q1094*	probably null	Het
Zfp831	C	T	2: 174,485,631 (GRCm39)	T102I	possibly damaging	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	Het

Other mutations in Pdzk1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Pdzk1ip1	APN	4	114,946,214 (GRCm39)	missense	possibly damaging	0.93
IGL03048:Pdzk1ip1	UTSW	4	114,950,181 (GRCm39)	missense	probably benign	0.27
R5597:Pdzk1ip1	UTSW	4	114,950,689 (GRCm39)	missense	probably damaging	1.00
R7030:Pdzk1ip1	UTSW	4	114,950,188 (GRCm39)	missense	probably damaging	1.00
R7185:Pdzk1ip1	UTSW	4	114,946,305 (GRCm39)	missense	possibly damaging	0.53
R8316:Pdzk1ip1	UTSW	4	114,946,323 (GRCm39)	missense	probably benign	0.00
R9643:Pdzk1ip1	UTSW	4	114,950,177 (GRCm39)	missense	probably benign	0.04

Posted On

2014-01-21