Incidental Mutation 'R0608:Tecpr1'
| ID |
54397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| MMRRC Submission |
038797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0608 (G1)
|
| Quality Score |
178 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144148317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 363
(T363A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: T363A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: T363A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156129
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
G |
14: 78,748,193 (GRCm39) |
V1398A |
probably benign |
Het |
| Ampd3 |
C |
A |
7: 110,394,997 (GRCm39) |
D315E |
probably damaging |
Het |
| Ampd3 |
T |
A |
7: 110,394,998 (GRCm39) |
F316I |
probably damaging |
Het |
| Arhgef40 |
A |
C |
14: 52,234,431 (GRCm39) |
E911D |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,100,588 (GRCm39) |
|
probably null |
Het |
| Bckdhb |
T |
G |
9: 83,835,789 (GRCm39) |
F98V |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,132,280 (GRCm39) |
V112I |
probably benign |
Het |
| Ccdc28a |
G |
A |
10: 18,100,699 (GRCm39) |
R90C |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
| Cds1 |
G |
A |
5: 101,962,299 (GRCm39) |
V305M |
probably damaging |
Het |
| Cep128 |
T |
G |
12: 90,966,309 (GRCm39) |
|
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,186,423 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,012,364 (GRCm39) |
|
probably benign |
Het |
| Cstdc6 |
T |
C |
16: 36,143,386 (GRCm39) |
|
probably null |
Het |
| Cysltr1 |
A |
G |
X: 105,622,261 (GRCm39) |
V75A |
possibly damaging |
Het |
| Dnaaf11 |
T |
A |
15: 66,252,323 (GRCm39) |
M448L |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,981,575 (GRCm39) |
Y1716* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,225,836 (GRCm39) |
E383G |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,329,437 (GRCm39) |
|
probably null |
Het |
| Edil3 |
T |
C |
13: 89,332,968 (GRCm39) |
S375P |
probably damaging |
Het |
| Eme1 |
A |
G |
11: 94,540,908 (GRCm39) |
C277R |
probably damaging |
Het |
| Enam |
T |
C |
5: 88,640,886 (GRCm39) |
W183R |
possibly damaging |
Het |
| Fbxl6 |
C |
T |
15: 76,420,953 (GRCm39) |
V341M |
probably benign |
Het |
| Fgf14 |
A |
G |
14: 124,914,015 (GRCm39) |
S39P |
probably damaging |
Het |
| Fmo4 |
C |
T |
1: 162,631,220 (GRCm39) |
R249H |
possibly damaging |
Het |
| Gle1 |
T |
A |
2: 29,830,240 (GRCm39) |
D265E |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,693,235 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
G |
T |
16: 36,736,692 (GRCm39) |
E1980* |
probably null |
Het |
| Hap1 |
A |
G |
11: 100,240,131 (GRCm39) |
L555P |
probably damaging |
Het |
| Heca |
T |
C |
10: 17,791,039 (GRCm39) |
D339G |
possibly damaging |
Het |
| Hepacam2 |
T |
C |
6: 3,483,479 (GRCm39) |
T101A |
possibly damaging |
Het |
| Ift88 |
T |
C |
14: 57,733,678 (GRCm39) |
V707A |
probably benign |
Het |
| Kdm3a |
C |
T |
6: 71,597,030 (GRCm39) |
G252D |
probably benign |
Het |
| Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
| Kntc1 |
A |
T |
5: 123,924,137 (GRCm39) |
N1008Y |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,316,587 (GRCm39) |
N2131K |
probably benign |
Het |
| Magi3 |
C |
G |
3: 103,924,873 (GRCm39) |
G1092A |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Minar2 |
A |
G |
18: 59,195,531 (GRCm39) |
|
probably null |
Het |
| Mrps26 |
G |
T |
2: 130,405,778 (GRCm39) |
R27L |
possibly damaging |
Het |
| Myof |
T |
C |
19: 37,904,952 (GRCm39) |
D1624G |
probably damaging |
Het |
| Naif1 |
T |
C |
2: 32,344,908 (GRCm39) |
M204T |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,538,784 (GRCm39) |
E179G |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,216,769 (GRCm39) |
D135E |
probably benign |
Het |
| Nlrp6 |
C |
T |
7: 140,503,399 (GRCm39) |
Q502* |
probably null |
Het |
| Nploc4 |
A |
G |
11: 120,304,507 (GRCm39) |
L238P |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,963 (GRCm39) |
Y470C |
probably damaging |
Het |
| Or4d2 |
G |
A |
11: 87,784,022 (GRCm39) |
H243Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,324,438 (GRCm39) |
Y98H |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,936,459 (GRCm39) |
R590H |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,726,628 (GRCm39) |
Y328* |
probably null |
Het |
| Pnpla8 |
C |
T |
12: 44,330,246 (GRCm39) |
P48L |
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,366,317 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,329,720 (GRCm39) |
I3031T |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,522,604 (GRCm39) |
D1072G |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 55,944,236 (GRCm39) |
T187A |
possibly damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,998,601 (GRCm39) |
C10R |
unknown |
Het |
| Sh2d4a |
A |
G |
8: 68,799,346 (GRCm39) |
Y405C |
possibly damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,621,317 (GRCm39) |
D23G |
probably benign |
Het |
| Slc7a7 |
A |
G |
14: 54,615,259 (GRCm39) |
L246P |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,661,945 (GRCm39) |
R163G |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,682,559 (GRCm39) |
D49E |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,474,069 (GRCm39) |
A509T |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,024,197 (GRCm39) |
F396L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,010,587 (GRCm39) |
L2499P |
probably damaging |
Het |
| Syt10 |
C |
A |
15: 89,711,144 (GRCm39) |
A130S |
probably benign |
Het |
| Sytl4 |
A |
T |
X: 132,862,936 (GRCm39) |
D16E |
probably benign |
Het |
| Tab2 |
C |
T |
10: 7,795,883 (GRCm39) |
V126I |
probably damaging |
Het |
| Terb2 |
A |
G |
2: 122,016,816 (GRCm39) |
D16G |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,510,552 (GRCm39) |
E137G |
probably benign |
Het |
| Trim30d |
T |
A |
7: 104,121,692 (GRCm39) |
H201L |
probably damaging |
Het |
| Tspan3 |
A |
G |
9: 56,054,669 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,617,667 (GRCm39) |
L16268Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,626,529 (GRCm39) |
|
probably null |
Het |
| Ubap2 |
T |
A |
4: 41,218,319 (GRCm39) |
T263S |
probably benign |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,886,138 (GRCm39) |
M973K |
possibly damaging |
Het |
| Zfp229 |
A |
G |
17: 21,965,615 (GRCm39) |
E615G |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,180,867 (GRCm39) |
S242T |
possibly damaging |
Het |
| Zfp788 |
T |
A |
7: 41,297,705 (GRCm39) |
F62I |
possibly damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,629,078 (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 |
|
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 |
|
R7375:Tecpr1
|
UTSW |
5 |
144,145,417 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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'- TCATTGGCACACATCCCACGAG -3'
(R):5'- ACAACTGGGCTACCTCCCTTTGAC -3'
Sequencing Primer
(F):5'- AGGCCACACAGTCCGTC -3'
(R):5'- gacccaactacctcttctgac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation