Incidental Mutation 'R7702:Tecpr1'
ID |
594054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
045763-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7702 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144140236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 840
(Y840H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: Y840H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: Y840H
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (61/61) |
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 |
Abca5 |
A |
G |
11: 110,167,278 (GRCm39) |
|
probably null |
Het |
AU040320 |
T |
A |
4: 126,708,166 (GRCm39) |
S261T |
probably benign |
Het |
Banp |
T |
A |
8: 122,705,326 (GRCm39) |
C65* |
probably null |
Het |
Bloc1s5 |
T |
C |
13: 38,787,850 (GRCm39) |
D178G |
probably benign |
Het |
Cacna1c |
A |
G |
6: 118,575,727 (GRCm39) |
F1941L |
|
Het |
Ccdc121rt3 |
T |
C |
5: 112,503,063 (GRCm39) |
K214E |
probably benign |
Het |
Cd48 |
A |
G |
1: 171,523,348 (GRCm39) |
I64V |
probably damaging |
Het |
Cela3a |
A |
G |
4: 137,135,501 (GRCm39) |
S21P |
probably benign |
Het |
Cidec |
A |
G |
6: 113,411,415 (GRCm39) |
Y12H |
possibly damaging |
Het |
Col12a1 |
C |
G |
9: 79,588,803 (GRCm39) |
R1104T |
probably damaging |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
Dbnl |
C |
T |
11: 5,748,048 (GRCm39) |
L298F |
probably benign |
Het |
Dnah1 |
C |
A |
14: 31,032,866 (GRCm39) |
V390F |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,304 (GRCm39) |
D486G |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,916,466 (GRCm39) |
I4236V |
probably benign |
Het |
Dpp6 |
T |
A |
5: 27,857,274 (GRCm39) |
D406E |
probably benign |
Het |
Dsp |
C |
T |
13: 38,359,183 (GRCm39) |
A318V |
possibly damaging |
Het |
Duox1 |
T |
C |
2: 122,160,120 (GRCm39) |
L745P |
possibly damaging |
Het |
Ell |
C |
A |
8: 70,992,364 (GRCm39) |
A3E |
possibly damaging |
Het |
Fer1l5 |
T |
A |
1: 36,459,775 (GRCm39) |
L1832* |
probably null |
Het |
Filip1 |
G |
T |
9: 79,727,931 (GRCm39) |
N229K |
probably benign |
Het |
Flg |
A |
T |
3: 93,200,089 (GRCm39) |
H195L |
unknown |
Het |
Fndc7 |
G |
T |
3: 108,770,129 (GRCm39) |
P685H |
probably damaging |
Het |
Ggt1 |
A |
G |
10: 75,412,116 (GRCm39) |
N120S |
probably benign |
Het |
Gm4952 |
A |
T |
19: 12,604,428 (GRCm39) |
H280L |
probably benign |
Het |
Golim4 |
A |
T |
3: 75,794,091 (GRCm39) |
D551E |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Hmbs |
A |
C |
9: 44,248,147 (GRCm39) |
|
probably null |
Het |
Ino80 |
T |
C |
2: 119,273,054 (GRCm39) |
D474G |
probably benign |
Het |
Ipo4 |
A |
C |
14: 55,869,787 (GRCm39) |
H343Q |
probably damaging |
Het |
Jade2 |
C |
T |
11: 51,707,744 (GRCm39) |
R823H |
probably damaging |
Het |
Jakmip1 |
C |
T |
5: 37,274,841 (GRCm39) |
T453I |
probably damaging |
Het |
Klk6 |
T |
C |
7: 43,478,689 (GRCm39) |
S199P |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,223,166 (GRCm39) |
Y105N |
probably damaging |
Het |
Map3k19 |
G |
T |
1: 127,756,827 (GRCm39) |
T394N |
probably damaging |
Het |
Megf6 |
G |
A |
4: 154,354,927 (GRCm39) |
D1445N |
probably benign |
Het |
Mmp21 |
A |
G |
7: 133,280,791 (GRCm39) |
Y60H |
probably damaging |
Het |
Mylk4 |
C |
T |
13: 32,904,585 (GRCm39) |
|
probably null |
Het |
Nckipsd |
A |
T |
9: 108,691,216 (GRCm39) |
R38* |
probably null |
Het |
Nob1 |
G |
A |
8: 108,139,737 (GRCm39) |
R341* |
probably null |
Het |
Or11g25 |
A |
G |
14: 50,723,751 (GRCm39) |
T279A |
possibly damaging |
Het |
Or1e19 |
T |
A |
11: 73,324,175 (GRCm39) |
|
probably benign |
Het |
Or5ac22 |
A |
G |
16: 59,134,997 (GRCm39) |
Y258H |
probably damaging |
Het |
Pcdh1 |
A |
G |
18: 38,336,569 (GRCm39) |
L22P |
unknown |
Het |
Pebp4 |
T |
A |
14: 70,297,056 (GRCm39) |
N198K |
probably benign |
Het |
Pkp4 |
T |
C |
2: 59,138,757 (GRCm39) |
S336P |
probably damaging |
Het |
Prr5l |
T |
A |
2: 101,547,442 (GRCm39) |
D361V |
probably benign |
Het |
Ralgapa1 |
C |
G |
12: 55,756,340 (GRCm39) |
V1086L |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,756,341 (GRCm39) |
Q1085H |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,705,219 (GRCm39) |
N2849S |
probably damaging |
Het |
Slc6a18 |
A |
T |
13: 73,820,915 (GRCm39) |
L223H |
probably damaging |
Het |
Sqstm1 |
T |
G |
11: 50,096,932 (GRCm39) |
|
probably null |
Het |
Syne1 |
T |
C |
10: 5,195,835 (GRCm39) |
E3945G |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,037,161 (GRCm39) |
Y3780C |
probably benign |
Het |
Tmem183a |
T |
C |
1: 134,288,539 (GRCm39) |
Q108R |
probably benign |
Het |
Tmtc1 |
A |
T |
6: 148,345,415 (GRCm39) |
C95S |
probably benign |
Het |
Trappc8 |
C |
T |
18: 20,958,119 (GRCm39) |
V1250I |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,032,461 (GRCm39) |
V649A |
probably damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vmn1r123 |
A |
C |
7: 20,896,302 (GRCm39) |
T65P |
probably damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,577,553 (GRCm39) |
H328Q |
possibly damaging |
Het |
Zeb1 |
T |
C |
18: 5,766,802 (GRCm39) |
S438P |
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 |
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 |
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'- TGAGTGTGATCTCTGGCCTC -3'
(R):5'- TGGGCCAAGATTCTTCAGG -3'
Sequencing Primer
(F):5'- TGGCCTCTGCATGCACATG -3'
(R):5'- CCAAGATTCTTCAGGCAGAAAGGC -3'
|
Posted On |
2019-11-12 |