Incidental Mutation 'R1663:Tecpr1'
ID |
186922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
039699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1663 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 144134762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 1040
(K1040N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060747]
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060747
|
SMART Domains |
Protein: ENSMUSP00000055493 Gene: ENSMUSG00000052271
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
low complexity region
|
41 |
67 |
N/A |
INTRINSIC |
HLH
|
78 |
130 |
1.61e-18 |
SMART |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: K1040N
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: K1040N
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: ENSMUST00000125672
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140524
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
A |
8: 25,177,949 (GRCm39) |
T11S |
probably benign |
Het |
Adgb |
T |
C |
10: 10,215,419 (GRCm39) |
M1529V |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,570,126 (GRCm39) |
D531E |
possibly damaging |
Het |
Ankzf1 |
C |
T |
1: 75,172,914 (GRCm39) |
P337S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,401,378 (GRCm39) |
I55V |
probably damaging |
Het |
Aplnr |
A |
G |
2: 84,967,038 (GRCm39) |
D21G |
possibly damaging |
Het |
Apol10b |
A |
T |
15: 77,472,914 (GRCm39) |
F47I |
probably damaging |
Het |
Arhgef5 |
G |
A |
6: 43,253,899 (GRCm39) |
A1131T |
probably damaging |
Het |
Arrb2 |
A |
T |
11: 70,328,429 (GRCm39) |
Q83L |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,580,322 (GRCm39) |
Q1082R |
possibly damaging |
Het |
Atl2 |
A |
G |
17: 80,172,140 (GRCm39) |
S28P |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,084,651 (GRCm39) |
K89E |
possibly damaging |
Het |
Cc2d1b |
A |
G |
4: 108,480,744 (GRCm39) |
T55A |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,363,956 (GRCm39) |
E1217G |
probably damaging |
Het |
Cdc42ep4 |
A |
T |
11: 113,620,277 (GRCm39) |
M38K |
probably damaging |
Het |
Cldn14 |
A |
G |
16: 93,716,166 (GRCm39) |
S227P |
probably damaging |
Het |
Clspn |
T |
A |
4: 126,459,768 (GRCm39) |
C332S |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,841,488 (GRCm39) |
S370P |
unknown |
Het |
Comp |
T |
C |
8: 70,826,250 (GRCm39) |
L10P |
possibly damaging |
Het |
Dcc |
A |
T |
18: 71,959,123 (GRCm39) |
N216K |
probably damaging |
Het |
Dcstamp |
C |
T |
15: 39,618,340 (GRCm39) |
Q250* |
probably null |
Het |
Drd5 |
T |
C |
5: 38,478,198 (GRCm39) |
F397S |
probably benign |
Het |
Dst |
T |
C |
1: 34,202,466 (GRCm39) |
S265P |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,193,230 (GRCm39) |
Q574R |
probably benign |
Het |
Enam |
A |
T |
5: 88,651,853 (GRCm39) |
S1046C |
probably damaging |
Het |
Eno3 |
T |
C |
11: 70,553,100 (GRCm39) |
|
probably null |
Het |
Fam13a |
G |
A |
6: 58,931,357 (GRCm39) |
R408* |
probably null |
Het |
Gipc2 |
T |
A |
3: 151,799,801 (GRCm39) |
M310L |
probably benign |
Het |
Gm14496 |
T |
C |
2: 181,639,230 (GRCm39) |
V440A |
probably benign |
Het |
Gzmg |
A |
T |
14: 56,394,265 (GRCm39) |
C210S |
probably damaging |
Het |
Helb |
G |
T |
10: 119,941,338 (GRCm39) |
A450E |
probably damaging |
Het |
Hepacam2 |
A |
T |
6: 3,483,439 (GRCm39) |
I190N |
possibly damaging |
Het |
Hk3 |
A |
T |
13: 55,154,388 (GRCm39) |
S773T |
probably benign |
Het |
Hnrnpc |
A |
G |
14: 52,312,852 (GRCm39) |
S221P |
probably damaging |
Het |
Ifna9 |
T |
C |
4: 88,510,220 (GRCm39) |
T135A |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,896,046 (GRCm39) |
G1507R |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,037,349 (GRCm39) |
T218A |
probably benign |
Het |
Kcp |
G |
T |
6: 29,498,964 (GRCm39) |
R337S |
possibly damaging |
Het |
Krt74 |
A |
T |
15: 101,665,109 (GRCm39) |
|
noncoding transcript |
Het |
Lrp1 |
A |
T |
10: 127,392,790 (GRCm39) |
D2758E |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,144,578 (GRCm39) |
E1295G |
probably damaging |
Het |
Mccc1 |
C |
A |
3: 36,033,082 (GRCm39) |
W354L |
probably damaging |
Het |
Mmp1a |
C |
T |
9: 7,465,657 (GRCm39) |
T198M |
probably benign |
Het |
Mtmr2 |
C |
T |
9: 13,714,797 (GRCm39) |
T519I |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,553,407 (GRCm39) |
S2632P |
possibly damaging |
Het |
Nbn |
T |
A |
4: 15,970,903 (GRCm39) |
D295E |
probably benign |
Het |
Ndufb8 |
T |
C |
19: 44,538,820 (GRCm39) |
Y167C |
probably damaging |
Het |
Nisch |
A |
G |
14: 30,913,478 (GRCm39) |
|
probably benign |
Het |
Notch3 |
C |
T |
17: 32,375,093 (GRCm39) |
G407D |
probably damaging |
Het |
Nucb1 |
A |
G |
7: 45,148,288 (GRCm39) |
F175S |
probably damaging |
Het |
Or1l8 |
T |
G |
2: 36,817,346 (GRCm39) |
Y260S |
probably damaging |
Het |
Or6c6c |
G |
A |
10: 129,541,160 (GRCm39) |
V138M |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
Or8b44 |
T |
G |
9: 38,410,868 (GRCm39) |
I301R |
unknown |
Het |
Pip5k1c |
T |
C |
10: 81,148,349 (GRCm39) |
V425A |
probably damaging |
Het |
Pnisr |
T |
A |
4: 21,873,857 (GRCm39) |
|
probably benign |
Het |
Prkag1 |
A |
G |
15: 98,713,776 (GRCm39) |
V18A |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,559,050 (GRCm39) |
N1063S |
probably benign |
Het |
Rnf170 |
C |
T |
8: 26,619,171 (GRCm39) |
H132Y |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,328,498 (GRCm39) |
D1977G |
probably benign |
Het |
Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
Setx |
T |
A |
2: 29,016,917 (GRCm39) |
C7S |
probably damaging |
Het |
Slc23a2 |
A |
G |
2: 131,907,384 (GRCm39) |
I417T |
probably damaging |
Het |
Spink6 |
T |
G |
18: 44,204,588 (GRCm39) |
F18C |
unknown |
Het |
Sptbn1 |
T |
C |
11: 30,070,783 (GRCm39) |
Q1538R |
possibly damaging |
Het |
Strn3 |
A |
G |
12: 51,699,609 (GRCm39) |
Y188H |
probably damaging |
Het |
Tll1 |
T |
A |
8: 64,470,720 (GRCm39) |
Y901F |
probably benign |
Het |
Tmem81 |
C |
T |
1: 132,435,635 (GRCm39) |
A147V |
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,565,758 (GRCm39) |
D532G |
probably benign |
Het |
Vmn2r19 |
T |
A |
6: 123,313,411 (GRCm39) |
I827N |
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,070,000 (GRCm39) |
K857R |
probably benign |
Het |
Zfp110 |
A |
G |
7: 12,582,569 (GRCm39) |
T406A |
probably benign |
Het |
Zfp52 |
T |
C |
17: 21,782,084 (GRCm39) |
L644P |
possibly damaging |
Het |
Zfp605 |
G |
A |
5: 110,275,451 (GRCm39) |
V190I |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,733 (GRCm39) |
|
probably null |
Het |
Zmynd8 |
A |
G |
2: 165,649,805 (GRCm39) |
S779P |
probably benign |
Het |
Zswim5 |
T |
A |
4: 116,844,092 (GRCm39) |
N1043K |
probably 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 |
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 |
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'- GGCTTCTGACAGTCACGGCTTAAAC -3'
(R):5'- AGCCCCAGCCACACATTTGTTC -3'
Sequencing Primer
(F):5'- ACCTGGACACTTCTAAAGGATG -3'
(R):5'- AGCGTTAGAGCACTGGATAGG -3'
|
Posted On |
2014-05-09 |