Mutagenetix > Incidental Mutation

Incidental Mutation 'R5691:Phpt1'

443662

Institutional Source

Beutler Lab

Gene Symbol

Phpt1

Ensembl Gene

ENSMUSG00000036504

Gene Name

phosphohistidine phosphatase 1

Synonyms

1700008C22Rik

MMRRC Submission

043324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25463442-25465236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25463707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 96 (Y96C)

Ref Sequence

ENSEMBL: ENSMUSP00000037417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000095117] [ENSMUST00000114217] [ENSMUST00000114223] [ENSMUST00000188161] [ENSMUST00000191602]

AlphaFold

Q9DAK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000039156
AA Change: Y96C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504
AA Change: Y96C

Domain	Start	End	E-Value	Type
Pfam:Ocnus	5	116	1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095117

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LDLa	32	58	7.33e-1	SMART
MAM	66	227	3.56e-52	SMART
LDLa	233	272	3.5e-9	SMART
MAM	254	430	3.87e-53	SMART
LDLa	461	497	2.63e-4	SMART
MAM	493	653	5.33e-5	SMART
MAM	660	819	3.68e-68	SMART
MAM	820	979	1.07e-28	SMART
MAM	980	1148	2.07e-62	SMART
transmembrane domain	1165	1187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114217

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114223

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	28	54	7.33e-1	SMART
MAM	62	223	3.56e-52	SMART
LDLa	229	268	3.5e-9	SMART
MAM	250	426	3.87e-53	SMART
LDLa	457	493	2.63e-4	SMART
MAM	489	649	5.33e-5	SMART
MAM	656	815	3.68e-68	SMART
MAM	816	975	1.07e-28	SMART
MAM	976	1144	2.07e-62	SMART
transmembrane domain	1161	1183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181730

Predicted Effect

probably benign
Transcript: ENSMUST00000188161

SMART Domains

Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191602

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152237

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941

Domain	Start	End	E-Value	Type
LDLa	9	35	7.33e-1	SMART
MAM	43	204	3.56e-52	SMART
LDLa	210	249	3.5e-9	SMART
MAM	231	407	3.87e-53	SMART
LDLa	438	474	2.63e-4	SMART
MAM	558	717	2.27e-68	SMART
MAM	718	877	1.07e-28	SMART
MAM	878	1046	2.07e-62	SMART
transmembrane domain	1063	1085	N/A	INTRINSIC

Meta Mutation Damage Score

0.6488

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410022M11Rik	A	G	14: 57,049,830 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,890,970 (GRCm39)	M509K	probably damaging	Het
Ap4m1	A	G	5: 138,170,653 (GRCm39)	Y34C	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Bcl10	C	T	3: 145,638,904 (GRCm39)	T182I	probably benign	Het
Cdc123	T	A	2: 5,827,986 (GRCm39)	N87I	probably benign	Het
Cfap46	T	C	7: 139,186,616 (GRCm39)	E2431G	possibly damaging	Het
Dcc	T	C	18: 71,708,154 (GRCm39)	T521A	probably damaging	Het
Defb46	T	A	8: 19,292,149 (GRCm39)	I55K	probably benign	Het
Dlgap4	A	G	2: 156,546,390 (GRCm39)	T353A	probably benign	Het
Eqtn	C	A	4: 94,811,965 (GRCm39)		probably null	Het
Ermn	A	T	2: 57,937,776 (GRCm39)	M279K	probably damaging	Het
Fan1	C	A	7: 64,004,118 (GRCm39)		probably null	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Hectd4	A	G	5: 121,486,878 (GRCm39)	D3291G	possibly damaging	Het
Hid1	A	G	11: 115,239,645 (GRCm39)	W762R	probably damaging	Het
Idi2l	A	T	13: 8,992,693 (GRCm39)	Y91*	probably null	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Inpp4b	T	A	8: 82,617,323 (GRCm39)		probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Jph1	T	G	1: 17,074,587 (GRCm39)	Q477P	probably benign	Het
Kdm4c	A	T	4: 74,252,965 (GRCm39)	I511L	probably benign	Het
Lrp2	T	C	2: 69,332,897 (GRCm39)	D1540G	probably damaging	Het
Lrrc69	T	A	4: 14,769,648 (GRCm39)	I168F	probably damaging	Het
Mgat4e	A	T	1: 134,468,729 (GRCm39)		probably benign	Het
Mroh7	C	A	4: 106,559,815 (GRCm39)	G704V	probably damaging	Het
Nadsyn1	C	T	7: 143,366,316 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,250,774 (GRCm39)	C303S	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Nrcam	T	C	12: 44,611,039 (GRCm39)	Y554H	probably damaging	Het
Nubpl	G	A	12: 52,152,059 (GRCm39)		probably benign	Het
Oasl2	C	A	5: 115,037,828 (GRCm39)	T75K	possibly damaging	Het
Or8h9	A	T	2: 86,789,616 (GRCm39)	F62Y	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Parp14	A	G	16: 35,683,909 (GRCm39)	V139A	probably benign	Het
Pgam5	G	A	5: 110,414,959 (GRCm39)	P85S	probably damaging	Het
Plekhm2	A	C	4: 141,355,600 (GRCm39)	S867A	possibly damaging	Het
Pramel26	A	T	4: 143,538,579 (GRCm39)	W131R	probably benign	Het
Prss21	A	G	17: 24,087,759 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,563,254 (GRCm39)	Y108N	probably damaging	Het
Riox1	C	T	12: 83,998,466 (GRCm39)	T334I	possibly damaging	Het
Rps3a2	G	T	14: 88,360,483 (GRCm39)		noncoding transcript	Het
Selenot	C	T	3: 58,493,447 (GRCm39)	A108V	probably benign	Het
Setd3	A	T	12: 108,126,544 (GRCm39)	M98K	probably benign	Het
Slc22a27	T	C	19: 7,904,035 (GRCm39)	H34R	possibly damaging	Het
Slco1a8	A	T	6: 141,940,581 (GRCm39)	Y93*	probably null	Het
Sp3	A	G	2: 72,801,803 (GRCm39)	L70S	probably damaging	Het
Syne2	TCCAGGTAGGGCACACC	TCC	12: 76,074,630 (GRCm39)		probably null	Het
Tcl1b4	C	A	12: 105,168,806 (GRCm39)	D23E	possibly damaging	Het
Tespa1	T	A	10: 130,190,638 (GRCm39)		probably null	Het
Tmc7	T	C	7: 118,141,116 (GRCm39)	I672V	probably benign	Het
Trps1	T	A	15: 50,690,700 (GRCm39)	Q14L	probably benign	Het
Vmn2r73	A	G	7: 85,507,299 (GRCm39)	V671A	probably damaging	Het
Zfp106	G	A	2: 120,354,952 (GRCm39)	S1273F	probably damaging	Het
Zfp90	C	A	8: 107,151,710 (GRCm39)	Y474*	probably null	Het

Other mutations in Phpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02020:Phpt1	APN	2	25,464,221 (GRCm39)	missense	probably damaging	0.99
R1164:Phpt1	UTSW	2	25,464,727 (GRCm39)	missense	probably damaging	0.99
R4816:Phpt1	UTSW	2	25,464,332 (GRCm39)	unclassified	probably benign
R6042:Phpt1	UTSW	2	25,464,851 (GRCm39)	start codon destroyed	probably benign
R7549:Phpt1	UTSW	2	25,464,844 (GRCm39)	missense	probably benign	0.00
R7701:Phpt1	UTSW	2	25,464,799 (GRCm39)	missense	probably benign	0.01
R9441:Phpt1	UTSW	2	25,464,750 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGATTGGTCTGGCCTCTAAG -3'
(R):5'- TTAGACCCTCAGGCATCACC -3'

Sequencing Primer
(F):5'- CAGGTGCTATGCTGCCTAAG -3'
(R):5'- GGCATCACCTGAAGAGCTC -3'

Posted On

2016-11-09