Incidental Mutation 'R6627:Tmppe'
| ID |
524872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmppe
|
| Ensembl Gene |
ENSMUSG00000079260 |
| Gene Name |
transmembrane protein with metallophosphoesterase domain |
| Synonyms |
|
| MMRRC Submission |
044749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.639)
|
| Stock # |
R6627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114230173-114236344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114234553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 284
(D284G)
|
| 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 damaging
Transcript: ENSMUST00000111820
AA Change: D284G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: D284G
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
T |
C |
18: 12,395,221 (GRCm39) |
N224S |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,539,181 (GRCm39) |
S396P |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,439,375 (GRCm39) |
L119P |
possibly damaging |
Het |
| Cdk17 |
A |
C |
10: 93,068,274 (GRCm39) |
T311P |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,127,172 (GRCm39) |
D511G |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,908,607 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,947,343 (GRCm39) |
T236I |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,800,748 (GRCm39) |
V301A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,907,097 (GRCm39) |
I4209F |
probably damaging |
Het |
| E2f5 |
G |
A |
3: 14,668,917 (GRCm39) |
E270K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,647 (GRCm39) |
|
probably null |
Het |
| Esp24 |
C |
T |
17: 39,350,952 (GRCm39) |
Q51* |
probably null |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,709,753 (GRCm39) |
Q435K |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,949 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lfng |
T |
C |
5: 140,593,523 (GRCm39) |
V118A |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,563,654 (GRCm39) |
V110A |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,362,427 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
T |
G |
11: 67,105,835 (GRCm39) |
L1150R |
probably damaging |
Het |
| Plod3 |
T |
G |
5: 137,017,310 (GRCm39) |
I111S |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,746,970 (GRCm39) |
V66D |
probably damaging |
Het |
| Simc1 |
T |
G |
13: 54,694,887 (GRCm39) |
L323V |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,199 (GRCm39) |
I223T |
possibly damaging |
Het |
| Tmem203 |
T |
C |
2: 25,145,785 (GRCm39) |
|
probably null |
Het |
| Ube2s |
C |
T |
7: 4,813,581 (GRCm39) |
R61H |
possibly damaging |
Het |
|
| Other mutations in Tmppe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01823:Tmppe
|
APN |
9 |
114,234,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACATTCACTTGGGGCC -3'
(R):5'- TGTCAAGGTCCATGCCATG -3'
Sequencing Primer
(F):5'- ATTCACTTGGGGCCCACAGTG -3'
(R):5'- ATGCCATGCCCAGAGTAGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation