Incidental Mutation 'IGL02423:Tecpr1'
| ID |
292802 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144203487 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 817
(I817F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: I817F
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: I817F
| 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: ENSMUST00000140524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,229,377 (GRCm38) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,229,382 (GRCm38) |
P402L |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,219,006 (GRCm38) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,569,720 (GRCm38) |
R81W |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,672,576 (GRCm38) |
I72V |
probably benign |
Het |
| Banp |
A |
G |
8: 122,007,091 (GRCm38) |
I360V |
probably benign |
Het |
| Bmp8a |
C |
A |
4: 123,316,427 (GRCm38) |
G289C |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,866,851 (GRCm38) |
H94L |
probably damaging |
Het |
| Ccdc137 |
G |
A |
11: 120,460,101 (GRCm38) |
R108H |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 4,888,905 (GRCm38) |
N411S |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,433,800 (GRCm38) |
M907V |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,506,949 (GRCm38) |
W19R |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,393,748 (GRCm38) |
S2360P |
possibly damaging |
Het |
| Eif2d |
T |
G |
1: 131,153,360 (GRCm38) |
|
probably benign |
Het |
| Epx |
A |
G |
11: 87,871,318 (GRCm38) |
I369T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 28,089,953 (GRCm38) |
E648G |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 156,052,907 (GRCm38) |
P14L |
probably benign |
Het |
| Folr1 |
A |
G |
7: 101,858,525 (GRCm38) |
F236S |
probably benign |
Het |
| Foxj2 |
T |
G |
6: 122,842,773 (GRCm38) |
M540R |
possibly damaging |
Het |
| Gm14025 |
T |
C |
2: 129,048,048 (GRCm38) |
E42G |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,815,400 (GRCm38) |
T420A |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,187,356 (GRCm38) |
T222S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,592,599 (GRCm38) |
M2163K |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,832,243 (GRCm38) |
V244A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,351,969 (GRCm38) |
V373D |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,614,003 (GRCm38) |
|
probably benign |
Het |
| Krtap1-3 |
A |
T |
11: 99,590,854 (GRCm38) |
C156S |
unknown |
Het |
| Mab21l3 |
T |
C |
3: 101,818,729 (GRCm38) |
D317G |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,682,916 (GRCm38) |
H240R |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,274,032 (GRCm38) |
S218T |
probably benign |
Het |
| Olfr190 |
A |
T |
16: 59,074,267 (GRCm38) |
I271K |
probably benign |
Het |
| Olfr781 |
G |
A |
10: 129,333,528 (GRCm38) |
V216I |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,444,339 (GRCm38) |
V590A |
possibly damaging |
Het |
| Pim3 |
T |
C |
15: 88,863,531 (GRCm38) |
V200A |
probably benign |
Het |
| Plekha3 |
T |
C |
2: 76,680,180 (GRCm38) |
F20L |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,158,292 (GRCm38) |
R120S |
possibly damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,906,537 (GRCm38) |
D364A |
probably benign |
Het |
| Psd |
A |
G |
19: 46,314,504 (GRCm38) |
F155L |
possibly damaging |
Het |
| Rbm22 |
T |
C |
18: 60,571,819 (GRCm38) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,110,728 (GRCm38) |
S764N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,745,198 (GRCm38) |
F1556I |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,378,617 (GRCm38) |
A465T |
probably benign |
Het |
| Sdf2 |
A |
G |
11: 78,251,018 (GRCm38) |
S60G |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,565,809 (GRCm38) |
I400T |
probably damaging |
Het |
| Ski |
T |
C |
4: 155,159,734 (GRCm38) |
D478G |
probably damaging |
Het |
| Slc12a7 |
A |
T |
13: 73,763,763 (GRCm38) |
|
probably benign |
Het |
| Slc9a3r1 |
A |
G |
11: 115,163,713 (GRCm38) |
|
probably null |
Het |
| Sned1 |
A |
G |
1: 93,283,600 (GRCm38) |
T1074A |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,175,097 (GRCm38) |
T239A |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 164,086,499 (GRCm38) |
H84Y |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,368,295 (GRCm38) |
Q444K |
probably benign |
Het |
| Tep1 |
G |
T |
14: 50,844,620 (GRCm38) |
Q1159K |
possibly damaging |
Het |
| Tmem39b |
G |
A |
4: 129,678,649 (GRCm38) |
H387Y |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,749,700 (GRCm38) |
H174R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,705,273 (GRCm38) |
V35134I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,354,900 (GRCm38) |
I378V |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,090,244 (GRCm38) |
H440Q |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,998,412 (GRCm38) |
N7I |
probably damaging |
Het |
| Zcchc7 |
T |
A |
4: 44,931,244 (GRCm38) |
D144E |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,384,175 (GRCm38) |
H284N |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,828,294 (GRCm38) |
H380R |
probably benign |
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 |
|
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 |
|
R6114:Tecpr1
|
UTSW |
5 |
144,204,640 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation