Incidental Mutation 'R4932:Tecpr1'
| ID |
380628 |
| 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 # |
R4932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144141476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 798
(Y798N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: Y798N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: Y798N
| 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: ENSMUST00000151479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,342 (GRCm39) |
V616E |
possibly damaging |
Het |
| Adam21 |
A |
G |
12: 81,605,692 (GRCm39) |
V690A |
probably benign |
Het |
| Afg3l1 |
A |
T |
8: 124,228,119 (GRCm39) |
T635S |
probably damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,890,700 (GRCm39) |
M390K |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,734,053 (GRCm39) |
|
probably null |
Het |
| Antkmt |
T |
G |
17: 26,010,652 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 27,106,170 (GRCm39) |
K151N |
probably damaging |
Het |
| Ccr3 |
T |
G |
9: 123,829,043 (GRCm39) |
F126C |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,695,175 (GRCm39) |
D170G |
possibly damaging |
Het |
| Celsr2 |
T |
A |
3: 108,310,074 (GRCm39) |
D1552V |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,675,820 (GRCm39) |
L265F |
probably damaging |
Het |
| Chrna9 |
C |
T |
5: 66,126,533 (GRCm39) |
R92* |
probably null |
Het |
| Cog3 |
A |
T |
14: 75,970,394 (GRCm39) |
V341D |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,073,779 (GRCm39) |
R2072L |
probably damaging |
Het |
| Dbf4 |
G |
T |
5: 8,448,039 (GRCm39) |
H390Q |
probably benign |
Het |
| Dcaf4 |
T |
A |
12: 83,579,078 (GRCm39) |
C166S |
possibly damaging |
Het |
| Dclk3 |
T |
A |
9: 111,297,110 (GRCm39) |
L218Q |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,069,603 (GRCm39) |
W643R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,674,008 (GRCm39) |
K1091E |
probably damaging |
Het |
| Dis3 |
T |
A |
14: 99,326,340 (GRCm39) |
H415L |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,542,737 (GRCm39) |
I2478F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Doc2a |
T |
C |
7: 126,447,752 (GRCm39) |
|
probably benign |
Het |
| Dph5 |
A |
T |
3: 115,693,456 (GRCm39) |
M125L |
probably benign |
Het |
| Dst |
A |
T |
1: 34,267,764 (GRCm39) |
T5247S |
possibly damaging |
Het |
| Eno4 |
T |
G |
19: 58,952,889 (GRCm39) |
V477G |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,711 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,061,352 (GRCm39) |
S4312T |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,843,007 (GRCm39) |
D126G |
probably damaging |
Het |
| Fgfr4 |
A |
G |
13: 55,315,983 (GRCm39) |
T799A |
unknown |
Het |
| Gcn1 |
A |
T |
5: 115,730,203 (GRCm39) |
D839V |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,158 (GRCm39) |
V383A |
probably benign |
Het |
| Gpt |
T |
C |
15: 76,583,040 (GRCm39) |
V361A |
probably benign |
Het |
| Hepacam |
G |
A |
9: 37,293,060 (GRCm39) |
C217Y |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,660,151 (GRCm39) |
Y382N |
probably damaging |
Het |
| Htr2a |
T |
A |
14: 74,879,462 (GRCm39) |
N30K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,872,299 (GRCm39) |
M70K |
possibly damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,529,174 (GRCm39) |
Y36C |
probably damaging |
Het |
| Madcam1 |
C |
T |
10: 79,501,447 (GRCm39) |
Q171* |
probably null |
Het |
| Mcm8 |
G |
A |
2: 132,680,629 (GRCm39) |
M544I |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,076,580 (GRCm39) |
G64E |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,446,994 (GRCm39) |
D58G |
probably benign |
Het |
| Ms4a10 |
T |
C |
19: 10,942,132 (GRCm39) |
Y123C |
probably damaging |
Het |
| Ms4a4d |
T |
A |
19: 11,535,296 (GRCm39) |
I198K |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,241 (GRCm39) |
D112V |
probably benign |
Het |
| N4bp2l2 |
A |
C |
5: 150,566,606 (GRCm39) |
S567R |
probably benign |
Het |
| Ndufaf2 |
A |
G |
13: 108,295,010 (GRCm39) |
Y32H |
probably damaging |
Het |
| Nup153 |
T |
A |
13: 46,866,213 (GRCm39) |
K182* |
probably null |
Het |
| Or4c100 |
A |
G |
2: 88,356,079 (GRCm39) |
T51A |
probably benign |
Het |
| Or52p2 |
A |
G |
7: 102,237,623 (GRCm39) |
F109S |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,781 (GRCm39) |
V260E |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,754,358 (GRCm39) |
S928P |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,496 (GRCm39) |
D295G |
probably benign |
Het |
| P4ha2 |
C |
A |
11: 54,015,846 (GRCm39) |
T411K |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,333,822 (GRCm39) |
Q865L |
probably benign |
Het |
| Prepl |
G |
T |
17: 85,385,932 (GRCm39) |
T244K |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,388,103 (GRCm39) |
K776* |
probably null |
Het |
| Rc3h2 |
T |
C |
2: 37,279,844 (GRCm39) |
K462E |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,516,940 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
A |
G |
13: 33,066,147 (GRCm39) |
V266A |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,433,861 (GRCm39) |
N326Y |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,508,038 (GRCm39) |
G16D |
possibly damaging |
Het |
| Spns3 |
T |
C |
11: 72,390,321 (GRCm39) |
D441G |
possibly damaging |
Het |
| Srsf4 |
A |
G |
4: 131,618,556 (GRCm39) |
D49G |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,917,736 (GRCm39) |
C494* |
probably null |
Het |
| Tex56 |
A |
T |
13: 35,116,613 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmt1a |
T |
A |
15: 100,202,987 (GRCm39) |
F87Y |
probably benign |
Het |
| Trim56 |
C |
T |
5: 137,143,343 (GRCm39) |
E58K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,626,478 (GRCm39) |
D13146E |
probably damaging |
Het |
| Ube2q1 |
A |
T |
3: 89,686,790 (GRCm39) |
K46* |
probably null |
Het |
| Ucn |
G |
T |
5: 31,295,842 (GRCm39) |
T8K |
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,830,870 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
T |
4: 137,343,144 (GRCm39) |
Q430L |
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,343,145 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,890,579 (GRCm39) |
D164V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,751 (GRCm39) |
M806K |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,750,970 (GRCm39) |
Y2256F |
probably damaging |
Het |
| Wsb1 |
A |
G |
11: 79,141,826 (GRCm39) |
S64P |
probably damaging |
Het |
| Zc3h11a |
C |
A |
1: 133,552,350 (GRCm39) |
V586F |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,729,014 (GRCm39) |
D126G |
probably damaging |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp442 |
T |
A |
2: 150,251,635 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp82 |
T |
A |
7: 29,756,312 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
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 |
144,148,274 (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 |
|
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'- TCTTGAGCCCCGTGAATTG -3'
(R):5'- CACGTGAGGTCTAACTCCAG -3'
Sequencing Primer
(F):5'- TGAATTGGCCTGAGACTGCC -3'
(R):5'- TCTAACTCCAGGGTGGGTGAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation