Incidental Mutation 'IGL01823:Tmppe'
| ID |
154607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmppe
|
| Ensembl Gene |
ENSMUSG00000079260 |
| Gene Name |
transmembrane protein with metallophosphoesterase domain |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.639)
|
| Stock # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
114230173-114236344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114234175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 158
(K158R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063042]
[ENSMUST00000111820]
[ENSMUST00000217583]
|
| AlphaFold |
D3Z286 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063042
|
| SMART Domains |
Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
41 |
358 |
2.5e-129 |
PFAM |
|
Pfam:Glyco_hydro_42
|
56 |
216 |
9.4e-15 |
PFAM |
|
Pfam:BetaGal_dom4_5
|
531 |
623 |
4.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111820
AA Change: K158R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: K158R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
transmembrane domain
|
84 |
106 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
207 |
389 |
5.1e-13 |
PFAM |
|
Pfam:Metallophos_2
|
207 |
421 |
7.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217583
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
| Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
| Other mutations in Tmppe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02274:Tmppe
|
APN |
9 |
114,234,499 (GRCm39) |
missense |
probably benign |
|
|
IGL02349:Tmppe
|
APN |
9 |
114,234,268 (GRCm39) |
missense |
probably benign |
|
|
R0201:Tmppe
|
UTSW |
9 |
114,233,707 (GRCm39) |
frame shift |
probably null |
|
|
R1668:Tmppe
|
UTSW |
9 |
114,233,968 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2206:Tmppe
|
UTSW |
9 |
114,234,640 (GRCm39) |
missense |
probably benign |
|
|
R5026:Tmppe
|
UTSW |
9 |
114,234,887 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5054:Tmppe
|
UTSW |
9 |
114,235,026 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5118:Tmppe
|
UTSW |
9 |
114,234,549 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5623:Tmppe
|
UTSW |
9 |
114,234,964 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6307:Tmppe
|
UTSW |
9 |
114,233,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6502:Tmppe
|
UTSW |
9 |
114,234,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Tmppe
|
UTSW |
9 |
114,234,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6627:Tmppe
|
UTSW |
9 |
114,234,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Tmppe
|
UTSW |
9 |
114,233,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Tmppe
|
UTSW |
9 |
114,234,591 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7032:Tmppe
|
UTSW |
9 |
114,234,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Tmppe
|
UTSW |
9 |
114,234,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7642:Tmppe
|
UTSW |
9 |
114,233,862 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8894:Tmppe
|
UTSW |
9 |
114,230,260 (GRCm39) |
start gained |
probably benign |
|
|
R9101:Tmppe
|
UTSW |
9 |
114,234,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Tmppe
|
UTSW |
9 |
114,234,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation