Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Ptpdc1'

364130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

48577872-48625664 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 48590619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035824] [ENSMUST00000222028] [ENSMUST00000223025]

AlphaFold

Q6NZK8

Predicted Effect

probably benign
Transcript: ENSMUST00000035824

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042

Domain	Start	End	E-Value	Type
Pfam:DSPc	102	243	1.1e-13	PFAM
Pfam:Y_phosphatase	144	242	8.9e-10	PFAM
low complexity region	598	610	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221947

Predicted Effect

probably benign
Transcript: ENSMUST00000222028

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a centrosomal mitotic phosphatase. This protein has been implicated in centrosomal duplication and cytokinesis. In addition, knockdown of expression levels in non-cycling cells results in extra long cilia, suggesting that this protein may function in regulating cilia length independent of a function in cell cycle control. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,079,012	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,579,714	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,393,450	E33*	probably null	Het
Arhgap29	T	C	3: 121,992,860	V358A	probably benign	Het
B3galt1	T	C	2: 68,118,384	S148P	probably damaging	Het
BC061237	A	G	14: 44,503,322	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,500,750	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,426,902	K107Q	probably benign	Het
Col27a1	T	C	4: 63,331,426		probably benign	Het
Col5a2	T	C	1: 45,385,065	D1067G	probably damaging	Het
Col9a2	A	T	4: 121,053,192	R511S	probably benign	Het
Disp3	G	A	4: 148,249,201	S1060F	possibly damaging	Het
Dusp8	T	C	7: 142,082,930	T308A	probably benign	Het
Ern1	T	C	11: 106,423,440	N178S	probably damaging	Het
Gas6	C	A	8: 13,477,136	C204F	probably damaging	Het
Gga1	T	C	15: 78,893,322	S558P	possibly damaging	Het
Gli1	T	C	10: 127,332,410	T525A	probably benign	Het
Gm428	G	A	4: 73,687,365	A338T	probably damaging	Het
Gse1	A	G	8: 120,578,069		probably benign	Het
Hmcn1	G	A	1: 150,657,207	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,566,117		probably benign	Het
Htt	A	T	5: 34,876,753	E1894D	probably damaging	Het
Kcnh8	G	A	17: 52,956,622	E716K	probably benign	Het
Kntc1	A	G	5: 123,799,811	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,949,105	T211A	unknown	Het
Lin54	T	C	5: 100,480,321	I8V	possibly damaging	Het
Lipe	A	G	7: 25,383,335		probably benign	Het
Lpin2	T	A	17: 71,238,683	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,454,149	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,567,748	L169P	probably damaging	Het
Map9	C	A	3: 82,377,121	T334K	possibly damaging	Het
Mst1	A	T	9: 108,084,642		probably null	Het
Mtor	T	A	4: 148,464,964	F602I	probably benign	Het
Mylpf	T	A	7: 127,213,626	D98E	probably benign	Het
Naca	C	A	10: 128,047,682	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,941,356	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940		noncoding transcript	Het
Npat	C	T	9: 53,571,041	Q1350*	probably null	Het
Oaz3	T	C	3: 94,434,980	N123S	probably benign	Het
Patj	A	G	4: 98,411,173		probably benign	Het
Piezo1	A	C	8: 122,483,519	D2224E	probably damaging	Het
Pnpla7	A	T	2: 25,015,229	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,204,889	D275V	probably damaging	Het
Rac2	T	C	15: 78,570,747	E31G	possibly damaging	Het
Sdhc	T	C	1: 171,143,555		probably benign	Het
Smim23	G	T	11: 32,820,667	P80T	probably damaging	Het
Snupn	C	T	9: 56,957,080	T21I	probably benign	Het
Tjp2	A	G	19: 24,096,632	V1097A	probably benign	Het
Tmem8	T	A	17: 26,117,949	F280L	probably benign	Het
Ttc16	A	G	2: 32,771,927	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,827,982	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,802,851	V34M	probably damaging	Het
Vwf	A	C	6: 125,615,968	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,192,637	S146G	probably benign	Het
Zfp280d	T	G	9: 72,296,025	F18L	probably benign	Het

Other mutations in Ptpdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Ptpdc1	APN	13	48587058	missense	possibly damaging	0.80
IGL01410:Ptpdc1	APN	13	48586604	missense	probably damaging	0.99
IGL03180:Ptpdc1	APN	13	48586077	missense	probably damaging	1.00
PIT4519001:Ptpdc1	UTSW	13	48583156	missense	probably benign	0.29
PIT4687001:Ptpdc1	UTSW	13	48586290	missense	probably benign	0.15
R0014:Ptpdc1	UTSW	13	48586919	nonsense	probably null
R0244:Ptpdc1	UTSW	13	48585980	missense	probably benign	0.00
R0420:Ptpdc1	UTSW	13	48589119	critical splice donor site	probably null
R0690:Ptpdc1	UTSW	13	48586905	missense	probably benign	0.33
R0946:Ptpdc1	UTSW	13	48586810	missense	probably damaging	1.00
R1076:Ptpdc1	UTSW	13	48586810	missense	probably damaging	1.00
R1387:Ptpdc1	UTSW	13	48586320	missense	possibly damaging	0.85
R1459:Ptpdc1	UTSW	13	48586697	missense	possibly damaging	0.62
R1688:Ptpdc1	UTSW	13	48586224	missense	probably benign	0.28
R1732:Ptpdc1	UTSW	13	48586545	missense	probably benign	0.00
R2097:Ptpdc1	UTSW	13	48592659	critical splice acceptor site	probably null
R2570:Ptpdc1	UTSW	13	48586063	missense	probably benign	0.02
R3950:Ptpdc1	UTSW	13	48589194	missense	probably damaging	1.00
R4260:Ptpdc1	UTSW	13	48579758	missense	probably benign	0.33
R5194:Ptpdc1	UTSW	13	48586789	missense	possibly damaging	0.91
R5271:Ptpdc1	UTSW	13	48590698	missense	probably damaging	1.00
R5894:Ptpdc1	UTSW	13	48590322	missense	probably damaging	1.00
R5934:Ptpdc1	UTSW	13	48586369	missense	probably benign	0.08
R6894:Ptpdc1	UTSW	13	48590638	missense	probably benign	0.21
R7056:Ptpdc1	UTSW	13	48586990	missense	possibly damaging	0.65
R7436:Ptpdc1	UTSW	13	48586666	missense	probably benign	0.01
R7719:Ptpdc1	UTSW	13	48586290	missense	probably benign	0.15
R7827:Ptpdc1	UTSW	13	48579788	missense	probably damaging	1.00
R7969:Ptpdc1	UTSW	13	48587101	missense	probably damaging	1.00
R7986:Ptpdc1	UTSW	13	48592570	missense	probably damaging	1.00
R8330:Ptpdc1	UTSW	13	48597914	missense	probably benign	0.00
R8500:Ptpdc1	UTSW	13	48586283	nonsense	probably null
R8687:Ptpdc1	UTSW	13	48586660	missense	possibly damaging	0.90
R8874:Ptpdc1	UTSW	13	48590692	missense	probably damaging	1.00
R9130:Ptpdc1	UTSW	13	48586179	missense	probably benign	0.04
R9284:Ptpdc1	UTSW	13	48586691	missense	probably benign	0.04
R9290:Ptpdc1	UTSW	13	48586745	missense	probably benign	0.02
R9309:Ptpdc1	UTSW	13	48583131	missense	probably benign	0.00
R9359:Ptpdc1	UTSW	13	48586554	missense	probably benign	0.38
R9369:Ptpdc1	UTSW	13	48583246	missense	possibly damaging	0.95
R9661:Ptpdc1	UTSW	13	48586134	missense	probably benign	0.34

Posted On

2015-12-18