Incidental Mutation 'R6022:Tecpr1'
| ID |
478989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
043256-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6022 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144199191 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 961
(W961R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060747]
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060747
|
| SMART Domains |
Protein: ENSMUSP00000055493
Gene: ENSMUSG00000052271
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
67 |
N/A |
INTRINSIC |
|
HLH
|
78 |
130 |
1.61e-18 |
SMART |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: W961R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: W961R
| 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: ENSMUST00000125672
|
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,290,759 (GRCm38) |
F874C |
probably damaging |
Het |
| Adam9 |
T |
C |
8: 25,003,305 (GRCm38) |
T96A |
possibly damaging |
Het |
| Arhgef26 |
C |
T |
3: 62,428,939 (GRCm38) |
T633M |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,496,435 (GRCm38) |
|
probably null |
Het |
| AW209491 |
C |
T |
13: 14,637,780 (GRCm38) |
A406V |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,589 (GRCm38) |
R267H |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,496,735 (GRCm38) |
F158I |
probably benign |
Het |
| Ces1g |
T |
A |
8: 93,328,457 (GRCm38) |
N204I |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,377,773 (GRCm38) |
I41V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 134,074,273 (GRCm38) |
K915* |
probably null |
Het |
| Dock4 |
T |
C |
12: 40,748,110 (GRCm38) |
V911A |
probably benign |
Het |
| Dok5 |
A |
G |
2: 170,879,222 (GRCm38) |
Y302C |
probably damaging |
Het |
| Dpysl4 |
A |
T |
7: 139,086,084 (GRCm38) |
|
probably benign |
Het |
| Dsc3 |
A |
C |
18: 19,966,338 (GRCm38) |
V707G |
probably damaging |
Het |
| Endog |
A |
G |
2: 30,172,909 (GRCm38) |
Y187C |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,455,763 (GRCm38) |
T526A |
probably benign |
Het |
| Gcat |
T |
C |
15: 79,042,278 (GRCm38) |
V116A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,483,685 (GRCm38) |
D3975G |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,453,578 (GRCm38) |
|
probably null |
Het |
| Kif1b |
T |
C |
4: 149,198,532 (GRCm38) |
I1273V |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,215,534 (GRCm38) |
N452K |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,453,430 (GRCm38) |
E296G |
probably damaging |
Het |
| Marco |
G |
A |
1: 120,488,565 (GRCm38) |
L208F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,364,797 (GRCm38) |
W606R |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,841,457 (GRCm38) |
P1403S |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,930,025 (GRCm38) |
S647P |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,517,573 (GRCm38) |
K500E |
probably damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,886,105 (GRCm38) |
V524E |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,471,323 (GRCm38) |
I155K |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,458,522 (GRCm38) |
E815G |
probably damaging |
Het |
| Rnf150 |
T |
C |
8: 83,042,729 (GRCm38) |
V381A |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,486,010 (GRCm38) |
K5103R |
probably benign |
Het |
| Speer4a2 |
T |
G |
5: 26,084,679 (GRCm38) |
E250A |
probably benign |
Het |
| Tnn |
A |
T |
1: 160,110,358 (GRCm38) |
D932E |
probably benign |
Het |
| Tram2 |
G |
A |
1: 21,079,137 (GRCm38) |
|
probably benign |
Het |
| Trbv26 |
T |
A |
6: 41,227,575 (GRCm38) |
|
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,587,501 (GRCm38) |
I206T |
possibly damaging |
Het |
| Ttk |
T |
C |
9: 83,839,322 (GRCm38) |
Y87H |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,961,477 (GRCm38) |
|
probably benign |
Het |
| Vmn1r173 |
A |
G |
7: 23,702,835 (GRCm38) |
D165G |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,499,636 (GRCm38) |
S494P |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,419 (GRCm38) |
N513I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGCCAATCTCATCCTTGG -3'
(R):5'- ATCTACCCCTAGCCTTGACAG -3'
Sequencing Primer
(F):5'- GGATTACATAGGATGTTCTGCCACC -3'
(R):5'- TTGACAGGGCGGTCCATCTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation