Incidental Mutation 'R4684:Tecpr1'
ID |
353508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4684 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144144255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 649
(D649G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: D649G
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: D649G
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: ENSMUST00000147992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156129
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 47,083,872 (GRCm39) |
V45A |
probably benign |
Het |
4921509C19Rik |
A |
G |
2: 151,313,791 (GRCm39) |
I629T |
unknown |
Het |
4933402N03Rik |
T |
C |
7: 130,740,413 (GRCm39) |
R268G |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,384,193 (GRCm39) |
R3882* |
probably null |
Het |
Adamts3 |
T |
G |
5: 89,850,866 (GRCm39) |
T558P |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,767,304 (GRCm39) |
N214S |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,850,866 (GRCm39) |
|
probably null |
Het |
Boc |
C |
T |
16: 44,320,743 (GRCm39) |
A306T |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,871,503 (GRCm39) |
F367S |
probably damaging |
Het |
Ccdc6 |
T |
C |
10: 70,025,086 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
G |
T |
2: 64,929,372 (GRCm39) |
S688R |
possibly damaging |
Het |
Cpxm2 |
G |
T |
7: 131,650,767 (GRCm39) |
P631Q |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,687,779 (GRCm39) |
V406A |
possibly damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,312,200 (GRCm39) |
Y118N |
probably damaging |
Het |
Dgki |
A |
T |
6: 37,276,781 (GRCm39) |
|
probably benign |
Het |
Disp2 |
A |
G |
2: 118,623,237 (GRCm39) |
N1323S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,326,138 (GRCm39) |
Y42* |
probably null |
Het |
Eps8l1 |
C |
A |
7: 4,476,944 (GRCm39) |
P471Q |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,612,513 (GRCm39) |
L10R |
unknown |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,446 (GRCm39) |
I151K |
probably damaging |
Het |
Gga1 |
C |
A |
15: 78,769,509 (GRCm39) |
P161T |
probably damaging |
Het |
Gm9923 |
T |
A |
10: 72,145,306 (GRCm39) |
Y52* |
probably null |
Het |
Gucy2g |
A |
G |
19: 55,194,688 (GRCm39) |
F910L |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,476,750 (GRCm39) |
H241Q |
possibly damaging |
Het |
Helz |
T |
C |
11: 107,539,971 (GRCm39) |
V315A |
probably damaging |
Het |
Hk2 |
T |
C |
6: 82,716,629 (GRCm39) |
Y301C |
probably damaging |
Het |
Htt |
C |
T |
5: 35,010,109 (GRCm39) |
P1521S |
probably damaging |
Het |
Iah1 |
T |
C |
12: 21,366,434 (GRCm39) |
M1T |
probably null |
Het |
Ik |
T |
C |
18: 36,885,467 (GRCm39) |
S287P |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,185,906 (GRCm39) |
D32V |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Klk14 |
A |
G |
7: 43,341,392 (GRCm39) |
I15V |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,806,391 (GRCm39) |
I603V |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,080,773 (GRCm39) |
I1267T |
possibly damaging |
Het |
Lrp1b |
A |
C |
2: 40,812,316 (GRCm39) |
L2430V |
probably benign |
Het |
Lrrn3 |
T |
G |
12: 41,504,243 (GRCm39) |
K25Q |
possibly damaging |
Het |
Lta4h |
T |
A |
10: 93,304,678 (GRCm39) |
N233K |
probably benign |
Het |
Mapk13 |
T |
C |
17: 28,989,023 (GRCm39) |
I53T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,666,430 (GRCm39) |
F123L |
probably damaging |
Het |
Myh4 |
G |
C |
11: 67,136,637 (GRCm39) |
D472H |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,585,574 (GRCm39) |
N121K |
probably benign |
Het |
Nostrin |
C |
T |
2: 69,014,268 (GRCm39) |
T408M |
probably benign |
Het |
Oosp2 |
C |
T |
19: 11,627,017 (GRCm39) |
R102H |
probably damaging |
Het |
Or1j18 |
A |
G |
2: 36,624,686 (GRCm39) |
M118V |
probably damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 16,001,946 (GRCm39) |
I202L |
probably benign |
Het |
Pbld2 |
C |
A |
10: 62,893,476 (GRCm39) |
R271S |
probably damaging |
Het |
Pex6 |
C |
T |
17: 47,023,027 (GRCm39) |
T201I |
probably benign |
Het |
Pilra |
T |
C |
5: 137,833,777 (GRCm39) |
I96M |
probably damaging |
Het |
Pllp |
T |
A |
8: 95,403,906 (GRCm39) |
D47V |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,444,902 (GRCm39) |
S765G |
probably benign |
Het |
Prkca |
A |
T |
11: 107,852,434 (GRCm39) |
Y100N |
probably damaging |
Het |
Prkg1 |
T |
A |
19: 31,641,579 (GRCm39) |
K35* |
probably null |
Het |
Psmc2 |
A |
G |
5: 22,008,263 (GRCm39) |
D389G |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,951 (GRCm39) |
T2387A |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,005,192 (GRCm39) |
N914S |
probably damaging |
Het |
Ruvbl1 |
C |
A |
6: 88,468,581 (GRCm39) |
T367K |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,409,920 (GRCm39) |
R525H |
probably damaging |
Het |
Sec14l4 |
T |
C |
11: 3,985,200 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
T |
C |
2: 125,587,862 (GRCm39) |
D751G |
probably damaging |
Het |
Setd3 |
T |
C |
12: 108,074,949 (GRCm39) |
D402G |
probably benign |
Het |
Slc15a2 |
T |
A |
16: 36,578,211 (GRCm39) |
K359N |
probably damaging |
Het |
Slc25a21 |
A |
G |
12: 57,243,721 (GRCm39) |
S2P |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,908,332 (GRCm39) |
H70Q |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,647,576 (GRCm39) |
I944V |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,895,557 (GRCm39) |
F1887S |
probably damaging |
Het |
Sptbn4 |
A |
T |
7: 27,066,160 (GRCm39) |
D649E |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,844 (GRCm39) |
E879G |
probably damaging |
Het |
Stx5a |
C |
A |
19: 8,720,725 (GRCm39) |
R121S |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,384,597 (GRCm39) |
L26P |
probably damaging |
Het |
Tfam |
A |
G |
10: 71,073,677 (GRCm39) |
S32P |
probably benign |
Het |
Tmt1b |
G |
T |
10: 128,796,571 (GRCm39) |
C79* |
probably null |
Het |
Trmt44 |
C |
T |
5: 35,715,387 (GRCm39) |
R642H |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,965,145 (GRCm39) |
A1547T |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,044,003 (GRCm39) |
V519A |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,217,088 (GRCm39) |
F1107L |
probably benign |
Het |
Usp5 |
A |
T |
6: 124,794,919 (GRCm39) |
V677E |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,643,307 (GRCm39) |
L605* |
probably null |
Het |
Utrn |
T |
C |
10: 12,620,984 (GRCm39) |
D229G |
probably damaging |
Het |
Uty |
A |
T |
Y: 1,176,502 (GRCm39) |
L178* |
probably null |
Het |
Vmn2r88 |
A |
T |
14: 51,650,791 (GRCm39) |
D168V |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,646,324 (GRCm39) |
V1476A |
probably damaging |
Het |
Vps13b |
C |
A |
15: 35,879,967 (GRCm39) |
T3014K |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,841,487 (GRCm39) |
H2506Y |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,690,132 (GRCm39) |
V198A |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,259,290 (GRCm39) |
Y1621H |
probably benign |
Het |
Zfp251 |
T |
C |
15: 76,738,607 (GRCm39) |
D162G |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,078 (GRCm39) |
T1994A |
probably benign |
Het |
Zfp791 |
A |
G |
8: 85,837,559 (GRCm39) |
Y102H |
probably benign |
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 |
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'- AAGCTACTCTCAGAGGGGTG -3'
(R):5'- TGACATCAGTAATGGAAGCTGG -3'
Sequencing Primer
(F):5'- CTACTCTCAGAGGGGTGTGGTC -3'
(R):5'- CTAGAATGGCTCTTGGGCTCC -3'
|
Posted On |
2015-10-21 |