Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01950:Phospho1'

181317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phospho1

Ensembl Gene

ENSMUSG00000050860

Gene Name

phosphatase, orphan 1

Synonyms

D11Moh36

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01950

Quality Score

Status

Chromosome

Chromosomal Location

95715326-95722966 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 95719548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054173] [ENSMUST00000059026] [ENSMUST00000133070] [ENSMUST00000150134]

AlphaFold

Q8R2H9

Predicted Effect

probably benign
Transcript: ENSMUST00000054173

SMART Domains

Protein: ENSMUSP00000057858
Gene: ENSMUSG00000050860

Domain	Start	End	E-Value	Type
Pfam:Put_Phosphatase	27	264	6.9e-103	PFAM
Pfam:HAD	29	211	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059026

SMART Domains

Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381

Domain	Start	End	E-Value	Type
low complexity region	4	11	N/A	INTRINSIC
Pfam:Abi_HHR	96	168	4.3e-31	PFAM
low complexity region	206	225	N/A	INTRINSIC
low complexity region	233	252	N/A	INTRINSIC
low complexity region	259	303	N/A	INTRINSIC
SH3	312	367	1.41e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131049

Predicted Effect

probably benign
Transcript: ENSMUST00000133070

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137645

SMART Domains

Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	1	49	8.8e-14	PFAM
low complexity region	87	106	N/A	INTRINSIC
low complexity region	114	133	N/A	INTRINSIC
low complexity region	140	183	N/A	INTRINSIC
SH3	192	244	2.89e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150134

Predicted Effect

probably benign
Transcript: ENSMUST00000176538

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit fractures, bowed long bones, osteomalacia, and scoliosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm	G	A	7: 110,228,107 (GRCm39)	R96H	probably damaging	Het
Aebp1	C	T	11: 5,819,108 (GRCm39)	T198I	probably benign	Het
Arid3b	A	T	9: 57,702,257 (GRCm39)	I500N	probably damaging	Het
Clec1b	T	A	6: 129,377,043 (GRCm39)	W29R	probably damaging	Het
Cyp2e1	T	C	7: 140,344,874 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,290,435 (GRCm39)	E1275G	probably null	Het
Dnajc13	A	T	9: 104,067,631 (GRCm39)	I1171N	possibly damaging	Het
Dpf3	T	G	12: 83,371,723 (GRCm39)	T171P	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Kcnc2	T	G	10: 112,297,980 (GRCm39)		probably benign	Het
Kcnj11	A	T	7: 45,748,573 (GRCm39)	F250Y	probably damaging	Het
Kirrel3	C	T	9: 34,939,625 (GRCm39)		probably benign	Het
Lmbrd1	T	C	1: 24,750,683 (GRCm39)		probably null	Het
Mga	T	C	2: 119,772,135 (GRCm39)	V1665A	possibly damaging	Het
Ms4a3	G	T	19: 11,610,199 (GRCm39)	A121E	probably damaging	Het
Nfix	T	C	8: 85,440,415 (GRCm39)	*392W	probably null	Het
Noxred1	C	T	12: 87,268,190 (GRCm39)	V314M	probably damaging	Het
Or2t47	A	T	11: 58,442,560 (GRCm39)	C168*	probably null	Het
Or51aa5	T	A	7: 103,167,472 (GRCm39)	T40S	probably benign	Het
Prr5	G	A	15: 84,650,550 (GRCm39)	A237T	probably benign	Het
Rev3l	C	T	10: 39,697,153 (GRCm39)	T550M	probably damaging	Het
Sbf2	A	G	7: 109,965,032 (GRCm39)	F955L	probably benign	Het
Slc38a9	C	T	13: 112,831,787 (GRCm39)	T179M	probably damaging	Het
Trpv5	T	G	6: 41,652,912 (GRCm39)	D87A	probably benign	Het
Tubgcp5	A	G	7: 55,455,836 (GRCm39)	Q288R	possibly damaging	Het
Uqcc1	A	G	2: 155,700,058 (GRCm39)	Y172H	probably damaging	Het
Vmn2r23	T	C	6: 123,718,845 (GRCm39)	F733L	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,827 (GRCm39)	Y53C	probably damaging	Het
Vwa5a	T	A	9: 38,638,266 (GRCm39)	M263K	probably damaging	Het
Zfp503	C	A	14: 22,036,488 (GRCm39)	A143S	probably benign	Het
Zfp958	T	C	8: 4,678,917 (GRCm39)	L314P	probably damaging	Het

Other mutations in Phospho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Phospho1	APN	11	95,721,909 (GRCm39)	missense	probably damaging	0.99
IGL02676:Phospho1	APN	11	95,721,714 (GRCm39)	missense	probably damaging	1.00
R1965:Phospho1	UTSW	11	95,721,705 (GRCm39)	missense	probably damaging	1.00
R2019:Phospho1	UTSW	11	95,721,932 (GRCm39)	missense	probably damaging	0.99
R6160:Phospho1	UTSW	11	95,721,450 (GRCm39)	missense	probably damaging	1.00
R6513:Phospho1	UTSW	11	95,721,513 (GRCm39)	missense	possibly damaging	0.92
R7146:Phospho1	UTSW	11	95,721,732 (GRCm39)	missense	probably damaging	1.00
R7652:Phospho1	UTSW	11	95,721,645 (GRCm39)	missense	probably damaging	1.00
RF007:Phospho1	UTSW	11	95,721,881 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07