Mutagenetix > Incidental Mutation

Incidental Mutation 'R5140:Lhpp'

396402

Institutional Source

Beutler Lab

Gene Symbol

Lhpp

Ensembl Gene

ENSMUSG00000030946

Gene Name

phospholysine phosphohistidine inorganic pyrophosphate phosphatase

Synonyms

2310007H09Rik

MMRRC Submission

042726-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R5140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132212367-132308149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132307361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 253 (Y253H)

Ref Sequence

ENSEMBL: ENSMUSP00000033241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000124096]

AlphaFold

Q9D7I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033241
AA Change: Y253H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: Y253H

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	11	227	1.1e-8	PFAM
Pfam:Hydrolase_6	14	116	4.4e-17	PFAM
Pfam:HAD_2	159	233	3.4e-9	PFAM
Pfam:Hydrolase_like	186	260	9.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210168

Meta Mutation Damage Score

0.1964

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,752,154 (GRCm39)	I405N	probably damaging	Het
Abhd17b	T	C	19: 21,661,545 (GRCm39)	L244P	probably damaging	Het
Aebp2	T	A	6: 140,579,532 (GRCm39)	C34*	probably null	Het
Arhgap33	A	G	7: 30,227,726 (GRCm39)	V491A	probably damaging	Het
Cacul1	C	T	19: 60,551,619 (GRCm39)	R201Q	probably benign	Het
Cald1	T	A	6: 34,730,515 (GRCm39)	N77K	probably damaging	Het
Clcn6	A	C	4: 148,122,774 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,846,035 (GRCm39)	H178Q	probably benign	Het
Dnah17	C	T	11: 117,977,771 (GRCm39)	V1854I	probably damaging	Het
Dnajc16	T	G	4: 141,491,994 (GRCm39)	T610P	possibly damaging	Het
Enpp1	T	C	10: 24,528,750 (GRCm39)	N624S	possibly damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Foxn1	T	C	11: 78,252,459 (GRCm39)	T310A	probably benign	Het
Galnt16	T	A	12: 80,628,073 (GRCm39)	D256E	possibly damaging	Het
Gbp11	T	C	5: 105,478,919 (GRCm39)	D173G	probably damaging	Het
Glmn	A	G	5: 107,718,066 (GRCm39)	S284P	probably damaging	Het
Gm3985	A	G	8: 33,380,693 (GRCm39)		noncoding transcript	Het
Hs3st6	A	T	17: 24,977,521 (GRCm39)	M334L	probably benign	Het
Idua	T	A	5: 108,828,180 (GRCm39)	D155E	probably damaging	Het
Kdm6b	T	C	11: 69,290,881 (GRCm39)		probably benign	Het
Kiss1r	T	C	10: 79,757,461 (GRCm39)	F272L	probably damaging	Het
Krt35	T	C	11: 99,985,343 (GRCm39)	K233E	probably damaging	Het
Krt36	C	T	11: 99,994,328 (GRCm39)	V250M	probably damaging	Het
Npas3	T	A	12: 53,547,897 (GRCm39)	L51*	probably null	Het
Or10ac1	T	C	6: 42,515,449 (GRCm39)	H169R	probably benign	Het
Or1j18	T	A	2: 36,624,510 (GRCm39)	M59K	possibly damaging	Het
Or4a74	T	C	2: 89,439,627 (GRCm39)	Y273C	probably damaging	Het
Or4c119	T	C	2: 88,987,451 (GRCm39)	K23E	probably benign	Het
Or56b2	T	C	7: 104,338,107 (GRCm39)	M295T	probably benign	Het
Pcdhb9	T	G	18: 37,534,186 (GRCm39)	V60G	probably benign	Het
Prkce	T	C	17: 86,789,570 (GRCm39)	V239A	probably benign	Het
Ralgapa1	C	T	12: 55,822,937 (GRCm39)	C293Y	probably damaging	Het
Ralgapa1	C	T	12: 55,712,459 (GRCm39)	R1804Q	probably damaging	Het
Rnf26	C	A	9: 44,024,071 (GRCm39)		probably null	Het
Safb2	T	C	17: 56,884,901 (GRCm39)	D178G	probably benign	Het
Scn9a	C	T	2: 66,395,511 (GRCm39)	V178M	possibly damaging	Het
Sergef	A	G	7: 46,285,026 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,190,544 (GRCm39)	G7R	probably benign	Het
Setd2	C	A	9: 110,380,197 (GRCm39)	D1337E	probably benign	Het
Shprh	T	A	10: 11,030,449 (GRCm39)	M222K	probably benign	Het
Slc25a40	T	C	5: 8,480,486 (GRCm39)	Y79H	probably damaging	Het
Slc41a2	A	G	10: 83,133,155 (GRCm39)	M297T	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spcs1	A	G	14: 30,722,570 (GRCm39)	L83S	probably benign	Het
Sult1c2	T	C	17: 54,276,743 (GRCm39)	N106S	probably benign	Het
Szt2	C	T	4: 118,244,178 (GRCm39)	R1309Q	possibly damaging	Het
Ube3c	T	A	5: 29,840,709 (GRCm39)	F695I	probably damaging	Het
Uimc1	A	G	13: 55,223,330 (GRCm39)	L314P	probably damaging	Het
Usp17le	C	T	7: 104,418,645 (GRCm39)	E166K	probably damaging	Het
Vmn2r92	G	A	17: 18,372,312 (GRCm39)	D41N	probably benign	Het

Other mutations in Lhpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Lhpp	APN	7	132,244,249 (GRCm39)	missense	probably damaging	1.00
IGL02695:Lhpp	APN	7	132,252,063 (GRCm39)	missense	probably damaging	1.00
IGL03220:Lhpp	APN	7	132,252,020 (GRCm39)	missense	probably benign	0.02
R0105:Lhpp	UTSW	7	132,232,254 (GRCm39)	missense	probably damaging	0.99
R0200:Lhpp	UTSW	7	132,212,406 (GRCm39)	start gained	probably benign
R0463:Lhpp	UTSW	7	132,212,406 (GRCm39)	start gained	probably benign
R1103:Lhpp	UTSW	7	132,212,484 (GRCm39)	missense	probably damaging	1.00
R1872:Lhpp	UTSW	7	132,235,816 (GRCm39)	missense	probably benign	0.24
R4816:Lhpp	UTSW	7	132,272,104 (GRCm39)	nonsense	probably null
R5799:Lhpp	UTSW	7	132,307,364 (GRCm39)	missense	probably damaging	1.00
R6816:Lhpp	UTSW	7	132,235,762 (GRCm39)	missense	probably benign	0.01
R8503:Lhpp	UTSW	7	132,307,406 (GRCm39)	missense	probably benign
R8738:Lhpp	UTSW	7	132,243,261 (GRCm39)	missense	probably damaging	1.00
R8996:Lhpp	UTSW	7	132,212,484 (GRCm39)	missense	probably damaging	1.00
R9108:Lhpp	UTSW	7	132,252,018 (GRCm39)	missense	probably damaging	1.00
R9474:Lhpp	UTSW	7	132,243,312 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACCCTGGCTCACTCTTG -3'
(R):5'- AGCATCTGTCCTGGCAAAG -3'

Sequencing Primer
(F):5'- ACGCAGTGTCCTTGTGC -3'
(R):5'- GGCAAAGCCTTGGGTGG -3'

Posted On

2016-06-21