Mutagenetix > Incidental Mutation

Incidental Mutation 'RF007:Phospho1'

602921

Institutional Source

Beutler Lab

Gene Symbol

Phospho1

Ensembl Gene

ENSMUSG00000050860

Gene Name

phosphatase, orphan 1

Synonyms

D11Moh36

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

RF007 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

95715326-95722966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95721881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 184 (Y184H)

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: Y184H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057858
Gene: ENSMUSG00000050860
AA Change: Y184H

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

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

97% (73/75)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,661,401 (GRCm39)	S933T	probably benign	Het
Adgrl2	G	A	3: 148,544,884 (GRCm39)	T737I	probably damaging	Het
Adra2c	T	A	5: 35,438,386 (GRCm39)	V386E	probably damaging	Het
Agbl5	C	A	5: 31,060,589 (GRCm39)	T761N	unknown	Het
Ahnak	T	A	19: 8,990,965 (GRCm39)	M4083K	possibly damaging	Het
Aldh1l1	A	T	6: 90,575,241 (GRCm39)	I843F	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Arid1b	GCG	GCGCCG	17: 5,045,869 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,650,609 (GRCm39)		probably null	Het
Blm	C	CTCCTCCTCCTAG	7: 80,162,681 (GRCm39)		probably null	Het
Btg3	A	G	16: 78,129,836 (GRCm39)	*52W	probably null	Het
Cc2d1a	T	C	8: 84,861,298 (GRCm39)	T796A	probably damaging	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Cenpj	A	G	14: 56,767,505 (GRCm39)		probably null	Het
Cfap251	G	GGAT	5: 123,392,317 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,760,578 (GRCm39)	T2108A	possibly damaging	Het
Cherp	TGGAGCG	T	8: 73,215,903 (GRCm39)		probably benign	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cntnap5b	T	C	1: 100,091,795 (GRCm39)	C179R	probably damaging	Het
Cntrl	T	A	2: 35,060,512 (GRCm39)	N1901K	probably benign	Het
Coil	CTGG	C	11: 88,872,656 (GRCm39)		probably benign	Het
Col1a1	A	G	11: 94,833,866 (GRCm39)	D488G	probably damaging	Het
Coro1a	T	C	7: 126,301,024 (GRCm39)	H130R	probably damaging	Het
Crybg3	A	C	16: 59,377,067 (GRCm39)	S1396A	possibly damaging	Het
Csf2rb2	A	G	15: 78,176,126 (GRCm39)	I259T	probably benign	Het
Cyp1a2	G	T	9: 57,589,253 (GRCm39)	P187Q	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,892,525 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,458,726 (GRCm39)	E103G	possibly damaging	Het
Dmkn	T	A	7: 30,469,129 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,802,474 (GRCm39)	L864P	probably damaging	Het
Dnah14	T	A	1: 181,513,374 (GRCm39)	M1909K	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ecrg4	TTCTGTA	T	1: 43,776,352 (GRCm39)		probably benign	Het
Efna5	T	C	17: 62,920,389 (GRCm39)	S163G	probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ercc4	C	T	16: 12,941,371 (GRCm39)	S253L	possibly damaging	Het
Flywch1	ACCCA	ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA	17: 23,981,138 (GRCm39)		probably null	Het
Flywch1	CCTGGTGT	CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT	17: 23,981,145 (GRCm39)		probably null	Het
Folh1	T	C	7: 86,424,895 (GRCm39)	T25A	probably benign	Het
Foxi3	C	A	6: 70,937,845 (GRCm39)	T359K	possibly damaging	Het
Gab3	TTC	TTCATC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gba2	G	T	4: 43,569,894 (GRCm39)	L440M	probably damaging	Het
Gm14412	T	A	2: 177,007,494 (GRCm39)	N134Y	possibly damaging	Het
Gpr88	A	G	3: 116,046,018 (GRCm39)	S98P	probably benign	Het
Il1r1	A	G	1: 40,352,438 (GRCm39)	Y539C	probably damaging	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Lce1m	CTGCT	CTGCTTCCACTGTTGCT	3: 92,925,451 (GRCm39)		probably benign	Het
Lkaaear1	T	TATCTCCAGCTCC	2: 181,339,352 (GRCm39)		probably benign	Het
Lkaaear1	CAGCTCCAGCTCCAGCTCCAGCTC	CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC	2: 181,339,370 (GRCm39)		probably benign	Het
Ltb4r1	T	A	14: 56,005,426 (GRCm39)	L243Q	possibly damaging	Het
Man2a1	T	A	17: 65,019,248 (GRCm39)	V704D	probably damaging	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA	2: 121,136,789 (GRCm39)		probably benign	Het
Mcu	G	T	10: 59,326,938 (GRCm39)	A63E	probably benign	Het
Mrps31	A	T	8: 22,909,880 (GRCm39)	D182V	possibly damaging	Het
Mslnl	T	A	17: 25,962,202 (GRCm39)	V200E	possibly damaging	Het
Naip1	A	T	13: 100,562,642 (GRCm39)	M841K	probably benign	Het
Ndufab1	T	C	7: 121,695,861 (GRCm39)	K88E	possibly damaging	Het
Nlrp5	A	C	7: 23,117,586 (GRCm39)	I437L	probably benign	Het
Nnt	C	T	13: 119,533,393 (GRCm39)	V91M	probably damaging	Het
Nusap1	TACACGTTAGCAGTGAGGAGCAAGCTGAGA	TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,062 (GRCm39)		probably benign	Het
Nynrin	T	G	14: 56,103,658 (GRCm39)		probably null	Het
Or12k5	T	G	2: 36,895,186 (GRCm39)	T147P	probably damaging	Het
Or5ak22	C	A	2: 85,230,137 (GRCm39)	A247S	probably damaging	Het
Or6c204	T	A	10: 129,022,562 (GRCm39)	I243F	probably damaging	Het
Osbpl8	A	G	10: 111,112,328 (GRCm39)	K481R	possibly damaging	Het
Padi6	T	C	4: 140,457,054 (GRCm39)	D540G	probably damaging	Het
Pcmtd1	T	C	1: 7,225,329 (GRCm39)		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGGTTTTGTTTT	4: 134,006,679 (GRCm39)		probably null	Het
Pi4ka	T	A	16: 17,115,097 (GRCm39)	R1431W		Het
Plxdc1	T	A	11: 97,869,504 (GRCm39)	H28L	probably benign	Het
Pnma8a	ACCTCATGATGCACCTGCTTCAACA	ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA	7: 16,695,349 (GRCm39)		probably benign	Het
Ppp1r7	T	C	1: 93,274,011 (GRCm39)		probably null	Het
Ppp1r9a	T	A	6: 4,906,657 (GRCm39)	V404E	probably damaging	Het
Scfd1	T	A	12: 51,469,756 (GRCm39)	S434T	probably benign	Het
Six5	A	G	7: 18,828,862 (GRCm39)	S101G	probably benign	Het
Slc6a4	C	A	11: 76,910,008 (GRCm39)	T421K	probably damaging	Het
Smarcd3	C	A	5: 24,801,068 (GRCm39)	R113L	probably damaging	Het
Son	T	A	16: 91,456,257 (GRCm39)	M1668K	possibly damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Tcf25	A	G	8: 124,122,369 (GRCm39)	D434G	probably benign	Het
Tcof1	CCAGAGATCCCC	CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC	18: 60,966,640 (GRCm39)		probably benign	Het
Tep1	A	G	14: 51,098,402 (GRCm39)	V463A	possibly damaging	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,887,212 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,887,208 (GRCm39)		probably benign	Het
Trim24	A	G	6: 37,930,471 (GRCm39)	K642E	possibly damaging	Het
Trim33	GGCCCCCGC	GGC	3: 103,187,533 (GRCm39)		probably benign	Het
Triobp	CTCCCTGTGCCCAACGG	CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG	15: 78,851,244 (GRCm39)		probably benign	Het
Trmu	G	T	15: 85,776,770 (GRCm39)	V161L	possibly damaging	Het
Try4	T	A	6: 41,282,297 (GRCm39)	C206S	probably damaging	Het
Usp2	TTCACTTAC	TTCACTTACTCATGTGACCTGTTCGTCACTTAC	9: 44,000,418 (GRCm39)		probably benign	Het
Vmn1r62	A	T	7: 5,678,669 (GRCm39)	M117L	probably benign	Het
Vmn2r104	A	T	17: 20,268,302 (GRCm39)	Y56N	probably benign	Het
Xxylt1	C	T	16: 30,869,498 (GRCm39)	D201N	possibly damaging	Het
Zfp563	T	A	17: 33,323,999 (GRCm39)	I198K	probably benign	Het
Zfp612	T	A	8: 110,816,174 (GRCm39)	C460*	probably null	Het
Zfp691	G	A	4: 119,027,932 (GRCm39)	T100M	probably benign	Het
Zfp773	A	T	7: 7,135,689 (GRCm39)	C302*	probably null	Het
Zmat2	A	G	18: 36,930,936 (GRCm39)	E154G	probably damaging	Het
Zw10	T	A	9: 48,972,220 (GRCm39)	I132N	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCATTTCGGATGCCAACACC -3'
(R):5'- TGCAGATGTTGGCGCACATC -3'

Sequencing Primer
(F):5'- TCGGATGCCAACACCTTCGG -3'
(R):5'- ACATCGGCGGCTGTTTC -3'

Posted On

2019-12-04