Incidental Mutation 'R6114:Tecpr1'
| ID |
485007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
044263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6114 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144204640 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 804
(G804S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: G804S
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: G804S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
94% (60/64) |
| 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 |
|---|
| Adamdec1 |
C |
A |
14: 68,571,803 (GRCm38) |
V237L |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,842,297 (GRCm38) |
S878P |
probably damaging |
Het |
| Ahcy |
A |
C |
2: 155,062,159 (GRCm38) |
L386R |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,011,051 (GRCm38) |
N607D |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 68,097,744 (GRCm38) |
D776G |
possibly damaging |
Het |
| Art4 |
T |
A |
6: 136,857,213 (GRCm38) |
T11S |
unknown |
Het |
| Blm |
T |
C |
7: 80,513,487 (GRCm38) |
T39A |
probably damaging |
Het |
| Cabin1 |
T |
A |
10: 75,747,971 (GRCm38) |
M221L |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,596,140 (GRCm38) |
T1675A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,975,201 (GRCm38) |
H285L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,525,330 (GRCm38) |
E339G |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,725,953 (GRCm38) |
W150R |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,203,710 (GRCm38) |
I1187T |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 112,841,753 (GRCm38) |
H807R |
probably damaging |
Het |
| Copb1 |
T |
A |
7: 114,246,801 (GRCm38) |
H178L |
probably benign |
Het |
| Cpxm2 |
A |
G |
7: 132,154,306 (GRCm38) |
V103A |
probably benign |
Het |
| Egfr |
A |
G |
11: 16,904,374 (GRCm38) |
T849A |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,713,876 (GRCm38) |
K294* |
probably null |
Het |
| Fam208b |
G |
A |
13: 3,590,081 (GRCm38) |
T352M |
probably damaging |
Het |
| Gm884 |
T |
A |
11: 103,617,791 (GRCm38) |
|
probably benign |
Het |
| Hoxd9 |
A |
G |
2: 74,699,365 (GRCm38) |
N322D |
probably damaging |
Het |
| Hsph1 |
C |
A |
5: 149,627,387 (GRCm38) |
V416L |
possibly damaging |
Het |
| Igkv4-78 |
T |
A |
6: 69,059,759 (GRCm38) |
T97S |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,649,035 (GRCm38) |
C162F |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,692 (GRCm38) |
E222G |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,081,676 (GRCm38) |
N120S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,747,826 (GRCm38) |
I1318V |
probably benign |
Het |
| Lst1 |
T |
C |
17: 35,188,360 (GRCm38) |
T11A |
possibly damaging |
Het |
| Mfn1 |
C |
A |
3: 32,563,836 (GRCm38) |
A106D |
probably damaging |
Het |
| Ms4a12 |
G |
T |
19: 11,215,290 (GRCm38) |
N227K |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,478,816 (GRCm38) |
N273Y |
possibly damaging |
Het |
| Nrd1 |
A |
T |
4: 109,044,585 (GRCm38) |
K617M |
probably damaging |
Het |
| Olfr355 |
A |
T |
2: 36,927,689 (GRCm38) |
C142S |
possibly damaging |
Het |
| Olfr516 |
A |
T |
7: 108,845,386 (GRCm38) |
M208K |
possibly damaging |
Het |
| Olfr771 |
T |
A |
10: 129,160,333 (GRCm38) |
H217L |
probably benign |
Het |
| Pcdhgc3 |
C |
G |
18: 37,807,872 (GRCm38) |
T442R |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 125,773,947 (GRCm38) |
N1468S |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,511,112 (GRCm38) |
|
probably null |
Het |
| Pitx2 |
C |
G |
3: 129,204,413 (GRCm38) |
|
probably null |
Het |
| Reck |
T |
A |
4: 43,922,895 (GRCm38) |
I390N |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,371,323 (GRCm38) |
N254S |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,522,792 (GRCm38) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 101,040,596 (GRCm38) |
T1949A |
probably damaging |
Het |
| Slc22a15 |
A |
T |
3: 101,860,852 (GRCm38) |
Y346* |
probably null |
Het |
| Slc24a5 |
A |
G |
2: 125,083,092 (GRCm38) |
T218A |
probably benign |
Het |
| Slc38a10 |
G |
A |
11: 120,129,312 (GRCm38) |
Q305* |
probably null |
Het |
| Slc45a4 |
G |
A |
15: 73,605,604 (GRCm38) |
P28S |
probably damaging |
Het |
| Smyd5 |
A |
T |
6: 85,440,262 (GRCm38) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,567,520 (GRCm38) |
D403G |
probably damaging |
Het |
| Stx7 |
A |
G |
10: 24,184,985 (GRCm38) |
|
probably null |
Het |
| Svil |
T |
C |
18: 5,108,639 (GRCm38) |
S1522P |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 178,348,245 (GRCm38) |
R1403G |
probably benign |
Het |
| Tcf25 |
A |
T |
8: 123,384,375 (GRCm38) |
K192M |
probably damaging |
Het |
| Teddm1a |
C |
G |
1: 153,891,868 (GRCm38) |
S26C |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,854,669 (GRCm38) |
P155S |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,840,364 (GRCm38) |
D451V |
possibly damaging |
Het |
| Vmn1r173 |
A |
G |
7: 23,702,829 (GRCm38) |
N163S |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 19,812,325 (GRCm38) |
C787F |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,268,376 (GRCm38) |
P587L |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 25,824,605 (GRCm38) |
H134Y |
probably benign |
Het |
| Zbtb40 |
T |
A |
4: 136,988,691 (GRCm38) |
I988F |
probably damaging |
Het |
| Zfp536 |
A |
T |
7: 37,479,736 (GRCm38) |
I84N |
probably damaging |
Het |
| Zfp651 |
T |
A |
9: 121,765,595 (GRCm38) |
F540Y |
probably damaging |
Het |
|
| Other mutations in Tecpr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Tecpr1
|
APN |
5 |
144,208,593 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01774:Tecpr1
|
APN |
5 |
144,211,540 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01960:Tecpr1
|
APN |
5 |
144,216,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01973:Tecpr1
|
APN |
5 |
144,197,988 (GRCm38) |
splice site |
probably benign |
|
|
IGL02244:Tecpr1
|
APN |
5 |
144,210,003 (GRCm38) |
missense |
probably benign |
|
|
IGL02247:Tecpr1
|
APN |
5 |
144,206,554 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02423:Tecpr1
|
APN |
5 |
144,203,487 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02679:Tecpr1
|
APN |
5 |
144,206,546 (GRCm38) |
missense |
probably benign |
0.28 |
|
larghissimo
|
UTSW |
5 |
144,217,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Tecpr1
|
UTSW |
5 |
144,214,067 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0121:Tecpr1
|
UTSW |
5 |
144,210,199 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0125:Tecpr1
|
UTSW |
5 |
144,197,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0194:Tecpr1
|
UTSW |
5 |
144,218,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0376:Tecpr1
|
UTSW |
5 |
144,207,476 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0441:Tecpr1
|
UTSW |
5 |
144,195,941 (GRCm38) |
missense |
probably benign |
|
|
R0504:Tecpr1
|
UTSW |
5 |
144,214,081 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0538:Tecpr1
|
UTSW |
5 |
144,206,274 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0586:Tecpr1
|
UTSW |
5 |
144,217,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0607:Tecpr1
|
UTSW |
5 |
144,212,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0608:Tecpr1
|
UTSW |
5 |
144,211,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0656:Tecpr1
|
UTSW |
5 |
144,214,053 (GRCm38) |
splice site |
probably null |
|
|
R0835:Tecpr1
|
UTSW |
5 |
144,212,592 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1080:Tecpr1
|
UTSW |
5 |
144,216,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1394:Tecpr1
|
UTSW |
5 |
144,206,539 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1597:Tecpr1
|
UTSW |
5 |
144,214,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1663:Tecpr1
|
UTSW |
5 |
144,197,944 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1785:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1786:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1833:Tecpr1
|
UTSW |
5 |
144,208,608 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1883:Tecpr1
|
UTSW |
5 |
144,206,529 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1988:Tecpr1
|
UTSW |
5 |
144,204,697 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2130:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2131:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2132:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2133:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2172:Tecpr1
|
UTSW |
5 |
144,211,456 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2172:Tecpr1
|
UTSW |
5 |
144,196,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2290:Tecpr1
|
UTSW |
5 |
144,214,063 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3691:Tecpr1
|
UTSW |
5 |
144,209,979 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4027:Tecpr1
|
UTSW |
5 |
144,206,259 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4587:Tecpr1
|
UTSW |
5 |
144,212,590 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4684:Tecpr1
|
UTSW |
5 |
144,207,437 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4864:Tecpr1
|
UTSW |
5 |
144,214,117 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4932:Tecpr1
|
UTSW |
5 |
144,204,658 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4955:Tecpr1
|
UTSW |
5 |
144,217,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5043:Tecpr1
|
UTSW |
5 |
144,197,854 (GRCm38) |
splice site |
probably null |
|
|
R5459:Tecpr1
|
UTSW |
5 |
144,207,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5579:Tecpr1
|
UTSW |
5 |
144,214,344 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5677:Tecpr1
|
UTSW |
5 |
144,218,633 (GRCm38) |
nonsense |
probably null |
|
|
R5679:Tecpr1
|
UTSW |
5 |
144,207,423 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5802:Tecpr1
|
UTSW |
5 |
144,206,546 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6000:Tecpr1
|
UTSW |
5 |
144,211,421 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6022:Tecpr1
|
UTSW |
5 |
144,199,191 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6251:Tecpr1
|
UTSW |
5 |
144,198,576 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6372:Tecpr1
|
UTSW |
5 |
144,216,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6493:Tecpr1
|
UTSW |
5 |
144,209,974 (GRCm38) |
missense |
probably benign |
|
|
R7276:Tecpr1
|
UTSW |
5 |
144,217,020 (GRCm38) |
nonsense |
probably null |
|
|
R7314:Tecpr1
|
UTSW |
5 |
144,217,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7375:Tecpr1
|
UTSW |
5 |
144,208,599 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7632:Tecpr1
|
UTSW |
5 |
144,218,726 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7702:Tecpr1
|
UTSW |
5 |
144,203,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8135:Tecpr1
|
UTSW |
5 |
144,198,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8406:Tecpr1
|
UTSW |
5 |
144,200,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8844:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8856:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8857:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8866:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8903:Tecpr1
|
UTSW |
5 |
144,214,027 (GRCm38) |
intron |
probably benign |
|
|
R8926:Tecpr1
|
UTSW |
5 |
144,216,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9218:Tecpr1
|
UTSW |
5 |
144,217,231 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9423:Tecpr1
|
UTSW |
5 |
144,218,578 (GRCm38) |
missense |
probably damaging |
0.98 |
|
RF001:Tecpr1
|
UTSW |
5 |
144,217,386 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Tecpr1
|
UTSW |
5 |
144,218,591 (GRCm38) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
|
| Posted On |
2017-08-16 |
Incidental Mutation