Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00954:Phospho1'

28587

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 #

IGL00954

Quality Score

Status

Chromosome

Chromosomal Location

95715326-95722966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95721909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 193 (V193E)

Ref Sequence

ENSEMBL: ENSMUSP00000057858 (fasta)

Gene Model

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

AlphaFold

Q8R2H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054173
AA Change: V193E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057858
Gene: ENSMUSG00000050860
AA Change: V193E

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

unknown
Transcript: ENSMUST00000176538
AA Change: V107E

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,972,756 (GRCm39)		probably benign	Het
Alox5	A	T	6: 116,431,260 (GRCm39)	V56D	probably damaging	Het
Atp1a2	A	G	1: 172,118,201 (GRCm39)	S158P	probably damaging	Het
B3glct	T	A	5: 149,619,902 (GRCm39)	M19K	probably benign	Het
BC049715	A	T	6: 136,817,093 (GRCm39)	E111V	possibly damaging	Het
Casp8ap2	C	A	4: 32,645,403 (GRCm39)	T1492K	probably damaging	Het
Cfap221	T	C	1: 119,861,939 (GRCm39)	E612G	probably damaging	Het
Cttnbp2	C	A	6: 18,381,061 (GRCm39)	K868N	possibly damaging	Het
Dpy19l2	T	A	9: 24,494,114 (GRCm39)	N672I	probably damaging	Het
Ei24	A	T	9: 36,701,166 (GRCm39)	I51N	probably damaging	Het
Gdi2	T	C	13: 3,606,467 (GRCm39)	V181A	probably benign	Het
Ggt1	G	A	10: 75,420,697 (GRCm39)	R354Q	probably benign	Het
Hao1	A	G	2: 134,340,181 (GRCm39)	I370T	possibly damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Jag2	G	T	12: 112,884,026 (GRCm39)	S184R	possibly damaging	Het
Kctd16	A	G	18: 40,391,853 (GRCm39)	D147G	probably benign	Het
Kiss1r	T	C	10: 79,757,834 (GRCm39)	L396P	probably damaging	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lrrc66	G	T	5: 73,765,741 (GRCm39)	T434K	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,132 (GRCm39)	S340P	possibly damaging	Het
Mcm5	A	T	8: 75,836,740 (GRCm39)	N64Y	possibly damaging	Het
Mroh2b	A	T	15: 4,932,536 (GRCm39)	Y54F	probably damaging	Het
Or10al6	T	A	17: 38,083,505 (GRCm39)	N329K	probably benign	Het
Or7g18	T	A	9: 18,787,369 (GRCm39)	S249T	probably benign	Het
Osgep	T	A	14: 51,153,619 (GRCm39)	I320F	probably benign	Het
Pcdh18	T	A	3: 49,710,838 (GRCm39)	D159V	probably damaging	Het
Phf20l1	G	A	15: 66,513,757 (GRCm39)	V978I	probably damaging	Het
Pip4k2b	T	C	11: 97,635,331 (GRCm39)	K34E	probably damaging	Het
Plb1	T	C	5: 32,455,858 (GRCm39)		probably benign	Het
Safb2	A	G	17: 56,885,639 (GRCm39)		probably null	Het
Sgsh	T	A	11: 119,237,311 (GRCm39)	E434D	probably benign	Het
Tkt	C	T	14: 30,291,052 (GRCm39)	H355Y	probably damaging	Het
Tmem128	A	G	5: 38,419,389 (GRCm39)	N47S	probably damaging	Het
Tmem232	A	G	17: 65,807,148 (GRCm39)	I15T	probably damaging	Het
Tns1	A	C	1: 73,964,128 (GRCm39)	V1501G	probably damaging	Het
Vmn2r24	G	A	6: 123,792,596 (GRCm39)	C641Y	probably damaging	Het
Vmn2r77	A	G	7: 86,449,975 (GRCm39)	T74A	probably benign	Het
Zfp820	T	C	17: 22,038,860 (GRCm39)	Y156C	probably damaging	Het

Other mutations in Phospho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Phospho1	APN	11	95,719,548 (GRCm39)	unclassified	probably benign
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

2013-04-17