Incidental Mutation 'R7375:Tecpr1'
| ID |
572327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| MMRRC Submission |
045458-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144145417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 610
(E610G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: E610G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: E610G
| Domain | Start | End | E-Value | Type |
|---|
|
TECPR
|
23 |
59 |
8.98e1 |
SMART |
|
DysFN
|
64 |
125 |
6.72e-24 |
SMART |
|
DysFC
|
137 |
170 |
1.89e-9 |
SMART |
|
TECPR
|
192 |
225 |
1.79e-1 |
SMART |
|
TECPR
|
234 |
270 |
2.5e-9 |
SMART |
|
TECPR
|
279 |
317 |
4.99e-9 |
SMART |
|
TECPR
|
326 |
361 |
2.42e-7 |
SMART |
|
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
|
PH
|
614 |
724 |
1.69e-2 |
SMART |
|
TECPR
|
711 |
750 |
1.88e-4 |
SMART |
|
TECPR
|
766 |
800 |
3.27e-4 |
SMART |
|
DysFN
|
821 |
882 |
2.95e-20 |
SMART |
|
DysFC
|
893 |
926 |
1.66e-14 |
SMART |
|
TECPR
|
940 |
974 |
1.69e1 |
SMART |
|
TECPR
|
983 |
1019 |
1.45e-5 |
SMART |
|
TECPR
|
1028 |
1065 |
1.51e-8 |
SMART |
|
TECPR
|
1074 |
1109 |
1.59e-2 |
SMART |
|
low complexity region
|
1125 |
1137 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,968,671 (GRCm39) |
I337V |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,184 (GRCm39) |
D117G |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,563,365 (GRCm39) |
L112* |
probably null |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,694 (GRCm39) |
I468N |
possibly damaging |
Het |
| Cfap91 |
T |
A |
16: 38,155,980 (GRCm39) |
H81L |
probably damaging |
Het |
| Cmya5 |
T |
G |
13: 93,228,169 (GRCm39) |
K2306N |
probably damaging |
Het |
| Col16a1 |
A |
C |
4: 129,959,294 (GRCm39) |
K680T |
unknown |
Het |
| Col28a1 |
T |
A |
6: 7,998,499 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Crnn |
A |
T |
3: 93,056,452 (GRCm39) |
T413S |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,655,495 (GRCm39) |
L512P |
possibly damaging |
Het |
| Dlx3 |
C |
A |
11: 95,011,461 (GRCm39) |
A105D |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,550,900 (GRCm39) |
T161P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,342,794 (GRCm39) |
D3435G |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,295,524 (GRCm39) |
I541T |
probably benign |
Het |
| Efcc1 |
T |
C |
6: 87,728,838 (GRCm39) |
V431A |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,391,868 (GRCm39) |
I99T |
probably benign |
Het |
| Gm11232 |
C |
T |
4: 71,675,583 (GRCm39) |
W59* |
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,727,383 (GRCm39) |
T166S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,628,791 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 115,005,753 (GRCm39) |
I476V |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,710 (GRCm39) |
T403A |
possibly damaging |
Het |
| Klhl42 |
A |
G |
6: 146,993,538 (GRCm39) |
K170R |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
| Krt32 |
G |
T |
11: 99,972,050 (GRCm39) |
R433S |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,375,217 (GRCm39) |
T4461N |
probably damaging |
Het |
| Mapk10 |
A |
T |
5: 103,124,256 (GRCm39) |
M256K |
probably null |
Het |
| Mogat2 |
T |
C |
7: 98,872,905 (GRCm39) |
K93R |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,101,254 (GRCm39) |
V677L |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Oog4 |
G |
A |
4: 143,165,544 (GRCm39) |
T201M |
possibly damaging |
Het |
| Or4a70 |
C |
T |
2: 89,324,036 (GRCm39) |
G207R |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,975,621 (GRCm39) |
T649A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,555 (GRCm39) |
H2794L |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,744,913 (GRCm39) |
N509K |
probably damaging |
Het |
| Psme3ip1 |
G |
A |
8: 95,309,636 (GRCm39) |
L119F |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,722,700 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,543,055 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Scpppq1 |
G |
T |
5: 104,219,123 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
G |
T |
5: 141,984,598 (GRCm39) |
V728L |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,847,112 (GRCm39) |
D57G |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,169,650 (GRCm39) |
D425G |
probably benign |
Het |
| Slc17a5 |
C |
T |
9: 78,495,174 (GRCm39) |
A26T |
probably benign |
Het |
| Slc22a26 |
A |
T |
19: 7,760,509 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
G |
19: 8,382,055 (GRCm39) |
L72P |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,009,146 (GRCm39) |
T447A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,172 (GRCm39) |
N81S |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,495,483 (GRCm39) |
|
probably null |
Het |
| Tmem81 |
G |
T |
1: 132,435,301 (GRCm39) |
V36L |
possibly damaging |
Het |
| Trabd2b |
G |
T |
4: 114,467,194 (GRCm39) |
K474N |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,713,519 (GRCm39) |
F149L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,606,683 (GRCm39) |
Y18076H |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,516,764 (GRCm39) |
R2277C |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,652 (GRCm39) |
D549E |
probably damaging |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,138 (GRCm39) |
I156K |
probably benign |
Het |
| Wwc2 |
T |
G |
8: 48,316,955 (GRCm39) |
S713R |
unknown |
Het |
| Xndc1 |
C |
A |
7: 101,730,687 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
A |
G |
9: 22,201,833 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tecpr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Tecpr1
|
APN |
5 |
144,145,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01774:Tecpr1
|
APN |
5 |
144,148,358 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01960:Tecpr1
|
APN |
5 |
144,153,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01973:Tecpr1
|
APN |
5 |
144,134,806 (GRCm39) |
splice site |
probably benign |
|
|
IGL02244:Tecpr1
|
APN |
5 |
144,146,821 (GRCm39) |
missense |
probably benign |
|
|
IGL02247:Tecpr1
|
APN |
5 |
144,143,372 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02423:Tecpr1
|
APN |
5 |
144,140,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02679:Tecpr1
|
APN |
5 |
144,143,364 (GRCm39) |
missense |
probably benign |
0.28 |
|
larghissimo
|
UTSW |
5 |
144,154,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Tecpr1
|
UTSW |
5 |
144,150,885 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0121:Tecpr1
|
UTSW |
5 |
144,147,017 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0125:Tecpr1
|
UTSW |
5 |
144,134,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Tecpr1
|
UTSW |
5 |
144,155,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Tecpr1
|
UTSW |
5 |
144,144,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0441:Tecpr1
|
UTSW |
5 |
144,132,759 (GRCm39) |
missense |
probably benign |
|
|
R0504:Tecpr1
|
UTSW |
5 |
144,150,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0538:Tecpr1
|
UTSW |
5 |
144,143,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0586:Tecpr1
|
UTSW |
5 |
144,154,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Tecpr1
|
UTSW |
5 |
144,149,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Tecpr1
|
UTSW |
5 |
144,148,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Tecpr1
|
UTSW |
5 |
144,150,871 (GRCm39) |
splice site |
probably null |
|
|
R0835:Tecpr1
|
UTSW |
5 |
144,149,410 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1080:Tecpr1
|
UTSW |
5 |
144,153,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:Tecpr1
|
UTSW |
5 |
144,143,357 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1597:Tecpr1
|
UTSW |
5 |
144,151,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1663:Tecpr1
|
UTSW |
5 |
144,134,762 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1785:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1786:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1833:Tecpr1
|
UTSW |
5 |
144,145,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1883:Tecpr1
|
UTSW |
5 |
144,143,347 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1988:Tecpr1
|
UTSW |
5 |
144,141,515 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2130:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2131:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2132:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2133:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2172:Tecpr1
|
UTSW |
5 |
144,148,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2172:Tecpr1
|
UTSW |
5 |
144,133,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Tecpr1
|
UTSW |
5 |
144,150,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3691:Tecpr1
|
UTSW |
5 |
144,146,797 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4027:Tecpr1
|
UTSW |
5 |
144,143,077 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4587:Tecpr1
|
UTSW |
5 |
144,149,408 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4684:Tecpr1
|
UTSW |
5 |
144,144,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4864:Tecpr1
|
UTSW |
5 |
144,150,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4932:Tecpr1
|
UTSW |
5 |
144,141,476 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4955:Tecpr1
|
UTSW |
5 |
144,154,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5043:Tecpr1
|
UTSW |
5 |
144,134,672 (GRCm39) |
splice site |
probably null |
|
|
R5459:Tecpr1
|
UTSW |
5 |
144,144,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Tecpr1
|
UTSW |
5 |
144,151,162 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5677:Tecpr1
|
UTSW |
5 |
144,155,451 (GRCm39) |
nonsense |
probably null |
|
|
R5679:Tecpr1
|
UTSW |
5 |
144,144,241 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5802:Tecpr1
|
UTSW |
5 |
144,143,364 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6000:Tecpr1
|
UTSW |
5 |
144,148,239 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6022:Tecpr1
|
UTSW |
5 |
144,136,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6114:Tecpr1
|
UTSW |
5 |
144,141,458 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6251:Tecpr1
|
UTSW |
5 |
144,135,394 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6372:Tecpr1
|
UTSW |
5 |
144,153,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Tecpr1
|
UTSW |
5 |
144,146,792 (GRCm39) |
missense |
probably benign |
|
|
R7276:Tecpr1
|
UTSW |
5 |
144,153,838 (GRCm39) |
nonsense |
probably null |
|
|
R7314:Tecpr1
|
UTSW |
5 |
144,154,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Tecpr1
|
UTSW |
5 |
144,155,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7702:Tecpr1
|
UTSW |
5 |
144,140,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Tecpr1
|
UTSW |
5 |
144,135,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8406:Tecpr1
|
UTSW |
5 |
144,137,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8844:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8856:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8857:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8866:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8903:Tecpr1
|
UTSW |
5 |
144,150,845 (GRCm39) |
intron |
probably benign |
|
|
R8926:Tecpr1
|
UTSW |
5 |
144,153,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Tecpr1
|
UTSW |
5 |
144,154,049 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9423:Tecpr1
|
UTSW |
5 |
144,155,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF001:Tecpr1
|
UTSW |
5 |
144,154,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tecpr1
|
UTSW |
5 |
144,155,409 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTAACCTTGGGACTGCC -3'
(R):5'- TCAAGGTGACTGTCAGACGG -3'
Sequencing Primer
(F):5'- ATACGGCAGTGCGATCAC -3'
(R):5'- TGACTGTCAGACGGGCCATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation