Incidental Mutation 'R2290:Tecpr1'
ID |
244256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
040289-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2290 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144150881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 309
(D309G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: D309G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: D309G
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 |
0.7486 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (73/73) |
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 |
Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
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 |
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'- TCCTGGAGATAGGGGATGATTC -3'
(R):5'- TAGCCAGCCCCATGATAGGAAG -3'
Sequencing Primer
(F):5'- AAAATTGGGTCCCCGACACTTTG -3'
(R):5'- CCCCATGATAGGAAGCGGGG -3'
|
Posted On |
2014-10-30 |