Incidental Mutation 'R1597:Tecpr1'
ID |
175866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
039634-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1597 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144151128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 256
(I256T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: I256T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: I256T
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
Validation Efficiency |
100% (77/77) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
A |
T |
19: 34,229,983 (GRCm39) |
|
probably benign |
Het |
Afap1l2 |
T |
C |
19: 56,902,881 (GRCm39) |
N748S |
probably benign |
Het |
Aox1 |
T |
A |
1: 58,086,326 (GRCm39) |
I77N |
probably damaging |
Het |
Ap1s1 |
A |
T |
5: 137,072,095 (GRCm39) |
M20K |
probably damaging |
Het |
Atad3a |
A |
T |
4: 155,835,892 (GRCm39) |
|
probably null |
Het |
Atp1b1 |
G |
T |
1: 164,265,889 (GRCm39) |
R291S |
probably damaging |
Het |
Birc7 |
T |
C |
2: 180,570,974 (GRCm39) |
V12A |
possibly damaging |
Het |
Btnl2 |
T |
C |
17: 34,582,211 (GRCm39) |
V259A |
probably damaging |
Het |
Cdh11 |
A |
T |
8: 103,377,343 (GRCm39) |
N434K |
probably benign |
Het |
Cel |
G |
T |
2: 28,450,479 (GRCm39) |
|
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,271,074 (GRCm39) |
K349E |
probably damaging |
Het |
Ddhd2 |
A |
G |
8: 26,239,768 (GRCm39) |
V315A |
probably benign |
Het |
Dnah17 |
C |
A |
11: 117,994,324 (GRCm39) |
|
probably benign |
Het |
Dock2 |
T |
C |
11: 34,595,474 (GRCm39) |
T441A |
probably benign |
Het |
Ermap |
A |
T |
4: 119,041,152 (GRCm39) |
I286N |
probably damaging |
Het |
Fbxl17 |
T |
C |
17: 63,794,813 (GRCm39) |
K423R |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,561,940 (GRCm39) |
T856A |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,543,901 (GRCm39) |
E64G |
probably damaging |
Het |
Gzma |
T |
A |
13: 113,232,331 (GRCm39) |
N190I |
probably damaging |
Het |
Ifngr1 |
C |
T |
10: 19,485,090 (GRCm39) |
T363M |
probably damaging |
Het |
Itga7 |
A |
G |
10: 128,782,732 (GRCm39) |
T690A |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,823,074 (GRCm39) |
E485G |
probably benign |
Het |
Kif18a |
A |
G |
2: 109,123,336 (GRCm39) |
I203M |
probably damaging |
Het |
Klhl1 |
A |
T |
14: 96,438,647 (GRCm39) |
|
probably null |
Het |
Lrch3 |
C |
T |
16: 32,770,781 (GRCm39) |
Q128* |
probably null |
Het |
Lrriq4 |
C |
G |
3: 30,705,037 (GRCm39) |
P355R |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 5,003,563 (GRCm39) |
H551Q |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,319,060 (GRCm39) |
F763L |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,156,758 (GRCm39) |
V55E |
probably damaging |
Het |
Me2 |
A |
T |
18: 73,931,016 (GRCm39) |
N92K |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,815,560 (GRCm39) |
S667P |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,753,317 (GRCm39) |
Y15N |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,256,329 (GRCm39) |
M197L |
probably damaging |
Het |
N4bp2 |
C |
T |
5: 65,964,483 (GRCm39) |
T844I |
probably benign |
Het |
Nlrc3 |
T |
A |
16: 3,781,859 (GRCm39) |
R517W |
probably damaging |
Het |
Nos3 |
A |
T |
5: 24,573,995 (GRCm39) |
I227F |
probably damaging |
Het |
Or52a5 |
A |
G |
7: 103,427,267 (GRCm39) |
F95S |
probably benign |
Het |
Pabpc2 |
A |
G |
18: 39,906,953 (GRCm39) |
N73D |
probably damaging |
Het |
Pcdhb18 |
A |
G |
18: 37,624,820 (GRCm39) |
R717G |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,413,964 (GRCm39) |
M1702L |
probably benign |
Het |
Plxna2 |
A |
C |
1: 194,431,614 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
G |
11: 69,630,755 (GRCm39) |
M1221T |
possibly damaging |
Het |
Polr2b |
A |
G |
5: 77,473,948 (GRCm39) |
D384G |
probably damaging |
Het |
Ppl |
T |
A |
16: 4,925,438 (GRCm39) |
H67L |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,757,035 (GRCm39) |
L63S |
probably damaging |
Het |
Psme1 |
A |
G |
14: 55,818,222 (GRCm39) |
T150A |
probably damaging |
Het |
Rapgef5 |
C |
T |
12: 117,621,940 (GRCm39) |
R33C |
probably damaging |
Het |
Rela |
G |
A |
19: 5,695,359 (GRCm39) |
R295H |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,320,421 (GRCm39) |
V326E |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,391,563 (GRCm39) |
R43L |
probably damaging |
Het |
Skida1 |
T |
C |
2: 18,051,143 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,283,587 (GRCm39) |
A469T |
probably benign |
Het |
Spaca7 |
G |
T |
8: 12,630,991 (GRCm39) |
E48* |
probably null |
Het |
Syn3 |
G |
T |
10: 85,970,908 (GRCm39) |
T238K |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,470,626 (GRCm39) |
S60P |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,552,196 (GRCm39) |
|
probably null |
Het |
Tex15 |
A |
G |
8: 34,061,511 (GRCm39) |
T588A |
probably damaging |
Het |
Tgfbi |
T |
A |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
Tmem62 |
G |
A |
2: 120,814,843 (GRCm39) |
A169T |
probably benign |
Het |
Tnc |
A |
G |
4: 63,924,621 (GRCm39) |
S1026P |
probably benign |
Het |
Tnik |
T |
C |
3: 28,658,418 (GRCm39) |
S568P |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,804,888 (GRCm39) |
I947F |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 75,170,402 (GRCm39) |
L832Q |
possibly damaging |
Het |
U2surp |
C |
T |
9: 95,363,793 (GRCm39) |
|
probably benign |
Het |
Ube4a |
A |
T |
9: 44,841,064 (GRCm39) |
D1009E |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,965,262 (GRCm39) |
E192G |
probably benign |
Het |
Vmn2r71 |
T |
C |
7: 85,273,352 (GRCm39) |
V722A |
possibly damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,709 (GRCm39) |
S476P |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
Zfyve16 |
T |
A |
13: 92,644,755 (GRCm39) |
N1149I |
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 |
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'- GTAACTTCCTGCCAGTCCCCAAAG -3'
(R):5'- GGCCAAAATCCAGGCATTTTCTCAC -3'
Sequencing Primer
(F):5'- AGAAACCCAGGCGGTCTC -3'
(R):5'- TCTCACCAAGATGTGAGTGC -3'
|
Posted On |
2014-04-24 |