Incidental Mutation 'R7276:Tecpr1'
| ID |
565574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| MMRRC Submission |
045359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 144153838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 138
(W138*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085701
AA Change: W138*
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: W138*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (74/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
T |
C |
3: 116,762,227 (GRCm39) |
V26A |
unknown |
Het |
| 4930546C10Rik |
C |
T |
18: 69,083,093 (GRCm39) |
W40* |
probably null |
Het |
| Abcc5 |
T |
C |
16: 20,195,258 (GRCm39) |
|
probably null |
Het |
| Adamts18 |
T |
A |
8: 114,501,896 (GRCm39) |
M322L |
probably damaging |
Het |
| Ankrd44 |
T |
A |
1: 54,774,239 (GRCm39) |
N406I |
probably benign |
Het |
| Arhgap35 |
T |
G |
7: 16,298,493 (GRCm39) |
T191P |
probably damaging |
Het |
| Atg3 |
G |
A |
16: 44,982,805 (GRCm39) |
E37K |
possibly damaging |
Het |
| Bbs1 |
A |
T |
19: 4,947,738 (GRCm39) |
|
probably null |
Het |
| BC048562 |
A |
G |
9: 108,322,435 (GRCm39) |
N60D |
probably damaging |
Het |
| Btnl9 |
T |
A |
11: 49,066,617 (GRCm39) |
I335F |
probably benign |
Het |
| C7 |
A |
T |
15: 5,041,449 (GRCm39) |
C486S |
probably damaging |
Het |
| Cchcr1 |
C |
A |
17: 35,840,031 (GRCm39) |
Q634K |
possibly damaging |
Het |
| Cd93 |
A |
T |
2: 148,283,660 (GRCm39) |
V562E |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,812,824 (GRCm39) |
I1010V |
probably benign |
Het |
| Cript |
T |
A |
17: 87,341,696 (GRCm39) |
Y50* |
probably null |
Het |
| Dnah14 |
T |
A |
1: 181,513,372 (GRCm39) |
F1908L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,367,984 (GRCm39) |
N2790D |
probably damaging |
Het |
| Eif3h |
C |
A |
15: 51,728,717 (GRCm39) |
|
probably null |
Het |
| Ffar3 |
C |
G |
7: 30,555,273 (GRCm39) |
V16L |
possibly damaging |
Het |
| Gcn1 |
C |
T |
5: 115,749,119 (GRCm39) |
R1884W |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 34,996,921 (GRCm39) |
M426L |
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,564,934 (GRCm39) |
Y449N |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,012,488 (GRCm39) |
T32A |
probably benign |
Het |
| Hykk |
T |
C |
9: 54,853,502 (GRCm39) |
Y275H |
probably damaging |
Het |
| Igfn1 |
G |
C |
1: 135,926,376 (GRCm39) |
P25A |
possibly damaging |
Het |
| Jph1 |
T |
C |
1: 17,162,266 (GRCm39) |
Q132R |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,931,450 (GRCm39) |
D149E |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,902,167 (GRCm39) |
K1289N |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,347,572 (GRCm39) |
S3041L |
unknown |
Het |
| Mtrex |
A |
T |
13: 113,050,973 (GRCm39) |
Y201N |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,013,368 (GRCm39) |
R54C |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,583,898 (GRCm39) |
I38N |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,546 (GRCm39) |
S94P |
probably damaging |
Het |
| Nfat5 |
C |
A |
8: 108,093,731 (GRCm39) |
N657K |
probably benign |
Het |
| Ngfr |
A |
G |
11: 95,465,170 (GRCm39) |
L226P |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,048,303 (GRCm39) |
S703P |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,434,484 (GRCm39) |
D275G |
probably benign |
Het |
| Oas1d |
A |
G |
5: 121,054,944 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,187 (GRCm39) |
V144A |
possibly damaging |
Het |
| Or2y17 |
T |
A |
11: 49,231,821 (GRCm39) |
M154K |
probably benign |
Het |
| Or4c11b |
T |
A |
2: 88,625,025 (GRCm39) |
F100I |
probably damaging |
Het |
| Or52e8 |
T |
A |
7: 104,624,857 (GRCm39) |
M116L |
possibly damaging |
Het |
| Papss1 |
A |
G |
3: 131,324,995 (GRCm39) |
E484G |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,160,224 (GRCm39) |
D447G |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,558 (GRCm39) |
E247G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,059,216 (GRCm39) |
E309G |
possibly damaging |
Het |
| Prelid2 |
T |
C |
18: 42,045,487 (GRCm39) |
N141S |
possibly damaging |
Het |
| Psg18 |
T |
C |
7: 18,079,909 (GRCm39) |
M431V |
probably damaging |
Het |
| Psmd12 |
A |
T |
11: 107,394,471 (GRCm39) |
R397* |
probably null |
Het |
| Ralgds |
G |
A |
2: 28,435,884 (GRCm39) |
R503Q |
probably damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,319,416 (GRCm39) |
C945Y |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,183,715 (GRCm39) |
D1026G |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,587,506 (GRCm39) |
P66S |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,414,458 (GRCm39) |
E448G |
probably benign |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,310 (GRCm39) |
I239M |
probably damaging |
Het |
| Tex101 |
T |
C |
7: 24,369,829 (GRCm39) |
N45S |
probably damaging |
Het |
| Tmx1 |
C |
A |
12: 70,512,917 (GRCm39) |
T275K |
possibly damaging |
Het |
| Trappc8 |
T |
G |
18: 20,951,148 (GRCm39) |
I1434L |
probably damaging |
Het |
| Trappc9 |
G |
T |
15: 72,924,119 (GRCm39) |
H208N |
probably damaging |
Het |
| Trcg1 |
T |
A |
9: 57,149,862 (GRCm39) |
L478Q |
probably damaging |
Het |
| Trim42 |
G |
T |
9: 97,251,625 (GRCm39) |
Y91* |
probably null |
Het |
| Vmn2r114 |
A |
G |
17: 23,509,934 (GRCm39) |
S849P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,831,881 (GRCm39) |
T303A |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,321,645 (GRCm39) |
W351R |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,340,359 (GRCm39) |
D38G |
probably damaging |
Het |
| Vsig8 |
C |
A |
1: 172,390,850 (GRCm39) |
C411* |
probably null |
Het |
| Vwce |
A |
T |
19: 10,641,538 (GRCm39) |
T755S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,611,782 (GRCm39) |
S897G |
probably damaging |
Het |
| Zfp111 |
C |
A |
7: 23,898,978 (GRCm39) |
C212F |
probably damaging |
Het |
| Zfp385b |
G |
T |
2: 77,280,624 (GRCm39) |
H193N |
probably damaging |
Het |
| Zfp811 |
T |
C |
17: 33,017,755 (GRCm39) |
E95G |
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 |
|
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 |
|
|
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'- CTTGTGGGCCTCCTATCAAG -3'
(R):5'- GAACTCAGTACCCTCCATGG -3'
Sequencing Primer
(F):5'- CCACGTCCCACCCCATG -3'
(R):5'- AGTACCCTCCATGGCTGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation