Incidental Mutation 'IGL01414:Lhpp'
ID |
80178 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lhpp
|
Ensembl Gene |
ENSMUSG00000030946 |
Gene Name |
phospholysine phosphohistidine inorganic pyrophosphate phosphatase |
Synonyms |
2310007H09Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
IGL01414
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
132212367-132308149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132244249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 189
(K189E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033241]
[ENSMUST00000106170]
[ENSMUST00000124096]
|
AlphaFold |
Q9D7I5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033241
AA Change: K189E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033241 Gene: ENSMUSG00000030946 AA Change: K189E
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: K189E
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 |
noncoding transcript
Transcript: ENSMUST00000130672
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210168
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
C |
T |
4: 156,279,696 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
T |
A |
10: 79,862,938 (GRCm39) |
S705T |
probably damaging |
Het |
B4galt4 |
A |
G |
16: 38,578,153 (GRCm39) |
E200G |
probably damaging |
Het |
Cdh12 |
A |
T |
15: 21,492,775 (GRCm39) |
N265Y |
probably damaging |
Het |
Cerk |
T |
A |
15: 86,043,343 (GRCm39) |
T153S |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,181,878 (GRCm39) |
|
probably benign |
Het |
Ep300 |
T |
A |
15: 81,511,467 (GRCm39) |
|
probably benign |
Het |
Gm26920 |
T |
G |
7: 29,767,503 (GRCm39) |
|
probably benign |
Het |
Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,744,253 (GRCm39) |
D1503G |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,233,298 (GRCm39) |
T606A |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,545,681 (GRCm39) |
|
probably null |
Het |
Nckap5 |
G |
T |
1: 126,456,450 (GRCm39) |
Q38K |
probably damaging |
Het |
Nlgn3 |
A |
G |
X: 100,345,866 (GRCm39) |
I93V |
probably benign |
Het |
Nxpe2 |
A |
G |
9: 48,231,923 (GRCm39) |
F345L |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,652,549 (GRCm39) |
N339S |
probably damaging |
Het |
Rbbp7 |
T |
A |
X: 161,557,577 (GRCm39) |
I322N |
probably damaging |
Het |
Rigi |
C |
A |
4: 40,222,176 (GRCm39) |
V368F |
probably damaging |
Het |
Rprd2 |
A |
T |
3: 95,672,837 (GRCm39) |
F855L |
probably damaging |
Het |
Scin |
A |
T |
12: 40,174,698 (GRCm39) |
H128Q |
probably damaging |
Het |
Sema4g |
A |
G |
19: 44,986,435 (GRCm39) |
Y337C |
probably damaging |
Het |
Stx6 |
C |
T |
1: 155,077,691 (GRCm39) |
R233C |
possibly damaging |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Trem3 |
G |
T |
17: 48,556,843 (GRCm39) |
V105L |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,691,942 (GRCm39) |
M194L |
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,658,704 (GRCm39) |
D402E |
probably benign |
Het |
|
Other mutations in Lhpp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
Posted On |
2013-11-05 |