Incidental Mutation 'R0586:Tecpr1'
ID |
55751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
038776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0586 (G1)
|
Quality Score |
199 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144154219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 78
(N78S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: N78S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: N78S
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: ENSMUST00000136018
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196360
|
Meta Mutation Damage Score |
0.2327 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.4%
|
Validation Efficiency |
100% (74/74) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,092,860 (GRCm39) |
V308E |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,356,418 (GRCm39) |
|
probably benign |
Het |
Astn2 |
C |
T |
4: 66,103,379 (GRCm39) |
V345M |
unknown |
Het |
Brwd1 |
T |
C |
16: 95,844,286 (GRCm39) |
E756G |
probably damaging |
Het |
Ccpg1 |
C |
T |
9: 72,909,103 (GRCm39) |
L135F |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,845 (GRCm39) |
H694Y |
probably damaging |
Het |
Cfh |
G |
A |
1: 140,110,920 (GRCm39) |
T14I |
probably damaging |
Het |
Cfhr2 |
G |
A |
1: 139,741,172 (GRCm39) |
R268* |
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,738,350 (GRCm39) |
I53L |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
Cnfn |
C |
T |
7: 25,067,256 (GRCm39) |
V98I |
probably benign |
Het |
Cntnap1 |
C |
T |
11: 101,077,840 (GRCm39) |
R1122W |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,272,024 (GRCm39) |
E384V |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,648,705 (GRCm39) |
|
probably benign |
Het |
Ctsj |
T |
A |
13: 61,151,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
C |
19: 39,501,934 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
C |
14: 68,046,481 (GRCm39) |
I767S |
probably damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,446 (GRCm39) |
T552A |
probably damaging |
Het |
Epdr1 |
A |
G |
13: 19,778,715 (GRCm39) |
I25T |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,789,138 (GRCm39) |
D568V |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,836,516 (GRCm39) |
V145D |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,038,654 (GRCm39) |
E195G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
Fuz |
T |
C |
7: 44,547,982 (GRCm39) |
V183A |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,046 (GRCm39) |
S284P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,713 (GRCm39) |
G40C |
probably damaging |
Het |
Kcnn1 |
T |
C |
8: 71,316,513 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
C |
A |
15: 98,733,088 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,203,732 (GRCm39) |
V366A |
unknown |
Het |
Ldlr |
G |
A |
9: 21,651,040 (GRCm39) |
R486H |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,795,658 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
T |
6: 121,006,602 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
C |
16: 48,992,250 (GRCm39) |
|
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,716 (GRCm39) |
H542Q |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,320,930 (GRCm39) |
|
probably benign |
Het |
Or13a20 |
T |
C |
7: 140,231,976 (GRCm39) |
F28S |
probably benign |
Het |
Or4a68 |
T |
A |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
Or8g4 |
A |
T |
9: 39,662,414 (GRCm39) |
H244L |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,126 (GRCm39) |
N5D |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Parp14 |
T |
C |
16: 35,661,382 (GRCm39) |
K1522R |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,594,335 (GRCm39) |
D1259E |
probably benign |
Het |
Pogz |
C |
T |
3: 94,786,664 (GRCm39) |
A1084V |
probably damaging |
Het |
Popdc3 |
G |
A |
10: 45,191,359 (GRCm39) |
V157M |
probably benign |
Het |
Prrt4 |
T |
C |
6: 29,171,183 (GRCm39) |
Y423C |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,411,719 (GRCm39) |
H415Y |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,433,235 (GRCm39) |
N801D |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,525,124 (GRCm39) |
|
probably benign |
Het |
Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,650,445 (GRCm39) |
D356G |
probably null |
Het |
Skint8 |
C |
G |
4: 111,794,126 (GRCm39) |
P172R |
probably damaging |
Het |
Slc12a8 |
T |
G |
16: 33,478,600 (GRCm39) |
M643R |
possibly damaging |
Het |
Sult1c2 |
A |
T |
17: 54,271,113 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,321 (GRCm39) |
L272P |
probably damaging |
Het |
Tcaf1 |
T |
A |
6: 42,650,473 (GRCm39) |
M869L |
probably damaging |
Het |
Tectb |
A |
T |
19: 55,170,356 (GRCm39) |
Y69F |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,237,101 (GRCm39) |
N187I |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,244,582 (GRCm39) |
|
probably null |
Het |
Tnik |
G |
T |
3: 28,631,510 (GRCm39) |
|
probably benign |
Het |
Tns2 |
G |
T |
15: 102,018,020 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
G |
17: 34,891,118 (GRCm39) |
D487G |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,217,660 (GRCm39) |
C202S |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,759,350 (GRCm39) |
I1145F |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,596 (GRCm39) |
T478A |
probably benign |
Het |
Ube2e3 |
T |
C |
2: 78,750,334 (GRCm39) |
Y187H |
probably benign |
Het |
Ubxn11 |
A |
G |
4: 133,836,963 (GRCm39) |
R64G |
possibly damaging |
Het |
Wwtr1 |
T |
C |
3: 57,366,487 (GRCm39) |
T407A |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,502 (GRCm39) |
S1325T |
possibly damaging |
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 |
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 |
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'- AAGTCCATAGCGTATGTCCACCCC -3'
(R):5'- ACCTATCTGTGTCCTCTAAGCACCG -3'
Sequencing Primer
(F):5'- ATGGTATTCAATCCCGGAGC -3'
(R):5'- TGTGGCTTTTCCTGGAGACTATC -3'
|
Posted On |
2013-07-11 |