Incidental Mutation 'R1988:Tecpr1'
ID |
222821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
040000-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1988 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 144141515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 785
(V785M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: V785M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: V785M
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
|
Meta Mutation Damage Score |
0.1135 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
96% (79/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
2610021A01Rik |
C |
T |
7: 41,276,081 (GRCm39) |
R595* |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,836,414 (GRCm39) |
D724G |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
Akt1 |
T |
C |
12: 112,621,585 (GRCm39) |
I404V |
probably benign |
Het |
Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
Atoh1 |
T |
C |
6: 64,706,617 (GRCm39) |
V104A |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,822,437 (GRCm39) |
D1256G |
probably damaging |
Het |
C9 |
ATTTT |
ATTT |
15: 6,512,619 (GRCm39) |
|
probably null |
Het |
Cd164 |
A |
G |
10: 41,399,177 (GRCm39) |
T89A |
probably benign |
Het |
Cep350 |
G |
C |
1: 155,808,850 (GRCm39) |
N575K |
possibly damaging |
Het |
Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,468,572 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,906,204 (GRCm39) |
T801A |
probably damaging |
Het |
Cntnap5b |
A |
C |
1: 99,999,865 (GRCm39) |
K208Q |
possibly damaging |
Het |
Crx |
A |
T |
7: 15,603,272 (GRCm39) |
V107D |
possibly damaging |
Het |
Csrnp2 |
A |
G |
15: 100,387,321 (GRCm39) |
F49S |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,408,248 (GRCm39) |
L228P |
possibly damaging |
Het |
Ctdp1 |
A |
T |
18: 80,492,616 (GRCm39) |
D626E |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,569 (GRCm39) |
T82A |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,566,793 (GRCm39) |
T2478S |
possibly damaging |
Het |
Dnah3 |
T |
G |
7: 119,567,182 (GRCm39) |
D2348A |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,069,175 (GRCm39) |
I2504T |
probably damaging |
Het |
Dnase1l2 |
A |
C |
17: 24,660,625 (GRCm39) |
W138G |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,563,061 (GRCm39) |
I855N |
probably damaging |
Het |
Dsc3 |
T |
A |
18: 20,098,903 (GRCm39) |
N759Y |
possibly damaging |
Het |
Dtx2 |
C |
T |
5: 136,061,147 (GRCm39) |
R510* |
probably null |
Het |
Fat4 |
G |
T |
3: 38,941,264 (GRCm39) |
M52I |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,050,239 (GRCm39) |
E4034K |
probably damaging |
Het |
Fezf2 |
T |
C |
14: 12,344,350 (GRCm38) |
K279R |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,806,861 (GRCm39) |
W1060L |
possibly damaging |
Het |
G6pc1 |
T |
A |
11: 101,258,768 (GRCm39) |
I49N |
probably damaging |
Het |
Gars1 |
A |
G |
6: 55,054,757 (GRCm39) |
E688G |
probably null |
Het |
Gdf11 |
T |
C |
10: 128,721,111 (GRCm39) |
N361S |
probably benign |
Het |
Gli3 |
A |
C |
13: 15,900,965 (GRCm39) |
M1451L |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,876,945 (GRCm39) |
I329T |
probably benign |
Het |
Herc3 |
T |
G |
6: 58,861,960 (GRCm39) |
|
probably null |
Het |
Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
Kif21b |
C |
T |
1: 136,080,002 (GRCm39) |
R513W |
probably damaging |
Het |
Kif7 |
G |
T |
7: 79,348,989 (GRCm39) |
H1195Q |
probably benign |
Het |
Lpcat4 |
T |
C |
2: 112,072,887 (GRCm39) |
V182A |
possibly damaging |
Het |
Map3k21 |
T |
A |
8: 126,654,294 (GRCm39) |
I371N |
probably benign |
Het |
Mns1 |
G |
A |
9: 72,356,041 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
G |
2: 22,468,140 (GRCm39) |
T465A |
possibly damaging |
Het |
Nlrc4 |
A |
T |
17: 74,733,938 (GRCm39) |
S992T |
probably benign |
Het |
Notch4 |
G |
A |
17: 34,806,562 (GRCm39) |
G1833E |
possibly damaging |
Het |
Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
Or52n2 |
T |
C |
7: 104,542,110 (GRCm39) |
T242A |
probably damaging |
Het |
Or5g29 |
G |
A |
2: 85,420,985 (GRCm39) |
V34I |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,993 (GRCm39) |
I194K |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
Pik3cd |
T |
A |
4: 149,747,660 (GRCm39) |
T28S |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
Ppm1f |
T |
C |
16: 16,741,530 (GRCm39) |
S335P |
probably damaging |
Het |
Prr16 |
C |
T |
18: 51,436,349 (GRCm39) |
P276L |
probably damaging |
Het |
Rilp |
A |
G |
11: 75,401,759 (GRCm39) |
|
probably null |
Het |
Rspry1 |
A |
G |
8: 95,358,682 (GRCm39) |
|
probably null |
Het |
Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
Smyd5 |
T |
C |
6: 85,415,118 (GRCm39) |
I42T |
possibly damaging |
Het |
Stk17b |
T |
C |
1: 53,800,241 (GRCm39) |
N246D |
probably damaging |
Het |
Suco |
T |
C |
1: 161,646,380 (GRCm39) |
|
probably null |
Het |
Telo2 |
C |
T |
17: 25,320,642 (GRCm39) |
V756I |
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,943,034 (GRCm39) |
R602H |
probably benign |
Het |
Timeless |
A |
G |
10: 128,080,056 (GRCm39) |
T402A |
probably damaging |
Het |
Tnfaip2 |
T |
A |
12: 111,416,325 (GRCm39) |
|
probably null |
Het |
Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,828 (GRCm39) |
S414P |
probably damaging |
Het |
Txnip |
A |
G |
3: 96,467,066 (GRCm39) |
T247A |
possibly damaging |
Het |
Vmn1r174 |
A |
T |
7: 23,454,050 (GRCm39) |
T239S |
probably damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,887,480 (GRCm39) |
N982K |
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 |
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 |
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'- TCAGCCAGCTGTTAAGTGTC -3'
(R):5'- CTCAAACAGGAGCCAAGTGG -3'
Sequencing Primer
(F):5'- AGCTGTTAAGTGTCCGCGC -3'
(R):5'- AGCCAAGTGGGTTGTCTGTTC -3'
|
Posted On |
2014-08-25 |