Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Lhpp'

98268

Institutional Source

Beutler Lab

Gene Symbol

Lhpp

Ensembl Gene

ENSMUSG00000030946

Gene Name

phospholysine phosphohistidine inorganic pyrophosphate phosphatase

Synonyms

2310007H09Rik

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R1103 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

132212367-132308149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132212484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 17 (D17V)

Ref Sequence

ENSEMBL: ENSMUSP00000147970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000106170] [ENSMUST00000124096] [ENSMUST00000148669]

AlphaFold

Q9D7I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033241
AA Change: D17V

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

SMART Domains

Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: D17V

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 damaging
Transcript: ENSMUST00000106170
AA Change: D17V

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

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

unknown
Transcript: ENSMUST00000133969
AA Change: D16V

Predicted Effect

probably damaging
Transcript: ENSMUST00000148669
AA Change: D17V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.9363

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930524J08Rik	G	A	5: 100,126,980 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Adpgk	A	G	9: 59,221,079 (GRCm39)	H295R	probably damaging	Het
Aftph	A	T	11: 20,676,547 (GRCm39)	M199K	probably benign	Het
Ap2a1	C	A	7: 44,553,593 (GRCm39)		probably benign	Het
Atpaf2	T	C	11: 60,294,776 (GRCm39)	I216V	probably benign	Het
Bag4	A	T	8: 26,257,891 (GRCm39)		probably benign	Het
Bltp1	A	T	3: 37,050,672 (GRCm39)	M3003L	probably benign	Het
Bud23	T	C	5: 135,089,993 (GRCm39)	S67G	probably damaging	Het
Cfap157	A	G	2: 32,671,410 (GRCm39)	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658 (GRCm39)		probably null	Het
Cntnap5a	A	G	1: 116,508,399 (GRCm39)	I1304V	possibly damaging	Het
Cp	A	G	3: 20,036,149 (GRCm39)	K764E	possibly damaging	Het
Crebbp	A	G	16: 3,901,925 (GRCm39)	V2438A	probably damaging	Het
Csmd3	A	T	15: 47,811,402 (GRCm39)	W1230R	probably damaging	Het
Cul1	G	A	6: 47,494,111 (GRCm39)	V475I	probably benign	Het
Dnttip2	T	C	3: 122,070,071 (GRCm39)	S429P	probably benign	Het
Dtwd1	T	C	2: 125,996,643 (GRCm39)	S43P	probably damaging	Het
Ect2l	T	C	10: 18,016,274 (GRCm39)	T705A	probably damaging	Het
Erbin	G	T	13: 104,022,710 (GRCm39)	T43N	probably benign	Het
Fcgbpl1	G	T	7: 27,853,945 (GRCm39)	L1636F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gpr150	G	T	13: 76,203,712 (GRCm39)	P411Q	probably damaging	Het
Grap	C	A	11: 61,562,544 (GRCm39)	Q172K	probably benign	Het
Ido2	G	A	8: 25,066,239 (GRCm39)	T9M	probably benign	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Klra17	G	A	6: 129,845,806 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Lrrc7	C	T	3: 157,854,343 (GRCm39)		probably benign	Het
Ltbp3	A	T	19: 5,797,439 (GRCm39)		probably null	Het
Ltbp3	G	C	19: 5,797,440 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,268,041 (GRCm39)	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,816,101 (GRCm39)	I747T	probably damaging	Het
Map1b	A	T	13: 99,563,974 (GRCm39)		probably benign	Het
Map3k4	A	T	17: 12,455,950 (GRCm39)		probably null	Het
Map3k5	C	A	10: 19,899,422 (GRCm39)	D226E	probably benign	Het
Mtf1	T	A	4: 124,732,261 (GRCm39)	S440T	probably benign	Het
Myo18a	T	A	11: 77,714,156 (GRCm39)	L389Q	probably damaging	Het
Myom2	A	G	8: 15,160,827 (GRCm39)	D900G	probably benign	Het
Nfasc	T	C	1: 132,534,795 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,912,309 (GRCm39)	S7044R	probably damaging	Het
Or5bw2	T	A	7: 6,573,111 (GRCm39)	N40K	probably damaging	Het
Or5e1	T	C	7: 108,354,090 (GRCm39)	V9A	possibly damaging	Het
Or6k4	T	C	1: 173,964,457 (GRCm39)	V49A	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Pramel22	A	C	4: 143,381,942 (GRCm39)	C251W	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Sesn1	G	T	10: 41,778,589 (GRCm39)	R346L	possibly damaging	Het
Setd4	G	T	16: 93,382,082 (GRCm39)	H390Q	probably benign	Het
Supt6	T	C	11: 78,116,299 (GRCm39)	E688G	possibly damaging	Het
Syne2	G	A	12: 76,156,609 (GRCm39)	D6802N	probably benign	Het
Syt16	A	G	12: 74,313,672 (GRCm39)	K533E	probably damaging	Het
Tg	A	T	15: 66,591,504 (GRCm39)	Q26H	probably benign	Het
Trim33	G	T	3: 103,218,201 (GRCm39)	W250L	probably damaging	Het
Trip4	A	G	9: 65,788,188 (GRCm39)	C86R	probably benign	Het
Upf2	T	A	2: 6,030,986 (GRCm39)	C809S	unknown	Het
Vrk2	A	G	11: 26,499,325 (GRCm39)	F76L	probably damaging	Het
Zfp804a	A	G	2: 82,087,844 (GRCm39)	T558A	probably damaging	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
R1872:Lhpp	UTSW	7	132,235,816 (GRCm39)	missense	probably benign	0.24
R4816:Lhpp	UTSW	7	132,272,104 (GRCm39)	nonsense	probably null
R5140:Lhpp	UTSW	7	132,307,361 (GRCm39)	missense	probably damaging	0.99
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'- TTACAGGTGAGAGCCATCCCTCC -3'
(R):5'- ACAAGGTTCCTAGCCAGCCTGAG -3'

Sequencing Primer
(F):5'- TGAACTCCTTCCGCAGGATG -3'
(R):5'- TAGCCAGCCTGAGGGGTG -3'

Posted On

2014-01-05