Incidental Mutation 'R2172:Tecpr1'
ID |
237547 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
040174-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2172 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 144148274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 377
(V377E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: V377E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: V377E
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
T |
A |
18: 38,123,613 (GRCm39) |
E441V |
probably damaging |
Het |
Arfip2 |
T |
A |
7: 105,287,195 (GRCm39) |
D64V |
probably damaging |
Het |
Atg9a |
C |
A |
1: 75,162,329 (GRCm39) |
R527L |
probably damaging |
Het |
Atp1a1 |
T |
G |
3: 101,497,864 (GRCm39) |
I308L |
probably benign |
Het |
Bcan |
T |
A |
3: 87,903,888 (GRCm39) |
Y199F |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,987,191 (GRCm39) |
|
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,780,367 (GRCm39) |
L902H |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,163,672 (GRCm39) |
Y492C |
probably benign |
Het |
Dnah9 |
G |
T |
11: 65,963,605 (GRCm39) |
H1783N |
probably damaging |
Het |
Dpep2 |
A |
G |
8: 106,715,630 (GRCm39) |
V320A |
possibly damaging |
Het |
Dsc2 |
A |
G |
18: 20,178,559 (GRCm39) |
Y282H |
probably damaging |
Het |
Egfr |
C |
T |
11: 16,861,562 (GRCm39) |
P1114S |
probably benign |
Het |
Fastkd1 |
A |
G |
2: 69,530,477 (GRCm39) |
S560P |
probably damaging |
Het |
Gm14295 |
G |
A |
2: 176,502,895 (GRCm39) |
R795Q |
possibly damaging |
Het |
Gpr155 |
C |
T |
2: 73,212,471 (GRCm39) |
V51I |
probably benign |
Het |
Gsap |
G |
A |
5: 21,427,438 (GRCm39) |
|
probably null |
Het |
Hecw1 |
T |
A |
13: 14,552,291 (GRCm39) |
I103F |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,864,422 (GRCm39) |
N685K |
probably damaging |
Het |
Hnrnph1 |
T |
A |
11: 50,273,643 (GRCm39) |
D244E |
probably benign |
Het |
Hydin |
A |
G |
8: 111,308,681 (GRCm39) |
E3989G |
probably benign |
Het |
Ibsp |
T |
C |
5: 104,458,296 (GRCm39) |
Y278H |
probably damaging |
Het |
Ift57 |
T |
G |
16: 49,579,703 (GRCm39) |
N291K |
probably benign |
Het |
Il15ra |
A |
G |
2: 11,728,382 (GRCm39) |
T149A |
possibly damaging |
Het |
Ints5 |
C |
T |
19: 8,873,646 (GRCm39) |
T535I |
possibly damaging |
Het |
Jarid2 |
T |
C |
13: 45,056,015 (GRCm39) |
L268P |
probably damaging |
Het |
Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,509,965 (GRCm39) |
V429A |
probably benign |
Het |
Lsm3 |
T |
C |
6: 91,499,254 (GRCm39) |
V87A |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Map1a |
G |
T |
2: 121,138,413 (GRCm39) |
V2726L |
probably damaging |
Het |
Marveld3 |
A |
C |
8: 110,688,478 (GRCm39) |
S88A |
probably benign |
Het |
Mcm9 |
T |
C |
10: 53,424,670 (GRCm39) |
D640G |
probably damaging |
Het |
Mettl4 |
A |
G |
17: 95,040,591 (GRCm39) |
I399T |
probably benign |
Het |
Mmp27 |
T |
A |
9: 7,577,379 (GRCm39) |
L274* |
probably null |
Het |
Nacc2 |
A |
C |
2: 25,950,235 (GRCm39) |
D500E |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,184,894 (GRCm39) |
M372L |
probably benign |
Het |
Or5p6 |
A |
T |
7: 107,630,674 (GRCm39) |
I292N |
probably damaging |
Het |
Otud7b |
T |
G |
3: 96,060,837 (GRCm39) |
|
probably null |
Het |
Pcx |
G |
A |
19: 4,670,909 (GRCm39) |
R1070H |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,426,855 (GRCm39) |
W1560* |
probably null |
Het |
Puf60 |
A |
T |
15: 75,942,313 (GRCm39) |
I520N |
probably damaging |
Het |
Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
Rfx3 |
G |
A |
19: 27,792,894 (GRCm39) |
Q322* |
probably null |
Het |
Samd14 |
G |
T |
11: 94,905,217 (GRCm39) |
V10L |
probably benign |
Het |
Setd2 |
G |
A |
9: 110,378,912 (GRCm39) |
R909Q |
probably benign |
Het |
Sh2d4a |
T |
C |
8: 68,749,316 (GRCm39) |
S117P |
probably benign |
Het |
Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
Skor1 |
C |
A |
9: 63,052,404 (GRCm39) |
A494S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,638 (GRCm39) |
T375A |
probably benign |
Het |
Sparc |
G |
A |
11: 55,286,627 (GRCm39) |
Q324* |
probably null |
Het |
Spopfm2 |
T |
G |
3: 94,083,605 (GRCm39) |
K69Q |
possibly damaging |
Het |
Srebf1 |
T |
C |
11: 60,097,328 (GRCm39) |
T171A |
probably benign |
Het |
Srrd |
A |
G |
5: 112,488,988 (GRCm39) |
I54T |
possibly damaging |
Het |
Tln1 |
T |
A |
4: 43,545,721 (GRCm39) |
H919L |
probably benign |
Het |
Tm9sf3 |
C |
T |
19: 41,205,859 (GRCm39) |
S516N |
probably damaging |
Het |
Trpa1 |
T |
A |
1: 14,951,880 (GRCm39) |
T940S |
probably benign |
Het |
Trpv4 |
G |
A |
5: 114,782,771 (GRCm39) |
R64C |
probably damaging |
Het |
Tufm |
A |
G |
7: 126,088,019 (GRCm39) |
E174G |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,757,841 (GRCm39) |
T1183A |
probably damaging |
Het |
Virma |
A |
T |
4: 11,527,843 (GRCm39) |
M1245L |
possibly damaging |
Het |
Vmn2r32 |
T |
C |
7: 7,477,614 (GRCm39) |
Y259C |
probably damaging |
Het |
Zfp329 |
A |
G |
7: 12,544,694 (GRCm39) |
F277L |
probably damaging |
Het |
Zfp683 |
C |
T |
4: 133,783,106 (GRCm39) |
T190I |
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 |
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 |
144,133,235 (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'- ATGTCTGTAGACCGCCTAGC -3'
(R):5'- TTCTCCAGCACCTGTGGAAG -3'
Sequencing Primer
(F):5'- TCTGTAGACCGCCTAGCTACAG -3'
(R):5'- GGGGTAGGAGTCCAACTATGTGC -3'
|
Posted On |
2014-10-02 |