Incidental Mutation 'R8844:Tecpr1'
| ID |
674596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
068733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144216299 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 204
(E204G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: E204G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: E204G
| 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 |
0.0866 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,701,218 (GRCm38) |
H89L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 9,006,890 (GRCm38) |
V1846A |
probably damaging |
Het |
| Arhgap9 |
A |
T |
10: 127,325,146 (GRCm38) |
T181S |
probably benign |
Het |
| Bmp10 |
A |
G |
6: 87,433,699 (GRCm38) |
Y158C |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,268,813 (GRCm38) |
C8R |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,973,997 (GRCm38) |
H373R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,259,297 (GRCm38) |
S529P |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,673,419 (GRCm38) |
T129M |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,741,194 (GRCm38) |
N1051S |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,420,385 (GRCm38) |
H432R |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,373,476 (GRCm38) |
F595S |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,948,477 (GRCm38) |
I410N |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,429,847 (GRCm38) |
F238I |
possibly damaging |
Het |
| Galnt3 |
A |
G |
2: 66,085,292 (GRCm38) |
V575A |
probably benign |
Het |
| Gm13088 |
A |
T |
4: 143,654,406 (GRCm38) |
F349Y |
probably damaging |
Het |
| Gpr149 |
T |
A |
3: 62,595,151 (GRCm38) |
Y428F |
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,361,025 (GRCm38) |
Y970* |
probably null |
Het |
| Hint2 |
G |
C |
4: 43,654,343 (GRCm38) |
Q157E |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,271,386 (GRCm38) |
T385A |
|
Het |
| Kcnc4 |
G |
A |
3: 107,448,080 (GRCm38) |
R351C |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,707,532 (GRCm38) |
L642S |
possibly damaging |
Het |
| Lilra5 |
T |
A |
7: 4,238,664 (GRCm38) |
V154D |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,135,768 (GRCm38) |
L1010P |
probably damaging |
Het |
| Mphosph10 |
C |
A |
7: 64,377,339 (GRCm38) |
K575N |
probably damaging |
Het |
| Mup7 |
C |
A |
4: 60,067,537 (GRCm38) |
E193* |
probably null |
Het |
| Nbea |
T |
C |
3: 56,090,994 (GRCm38) |
T131A |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,175,716 (GRCm38) |
I248T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,187,150 (GRCm38) |
I296F |
possibly damaging |
Het |
| Odam |
A |
G |
5: 87,889,463 (GRCm38) |
E172G |
probably damaging |
Het |
| Olfr198 |
G |
C |
16: 59,201,566 (GRCm38) |
P287A |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,027,112 (GRCm38) |
|
probably null |
Het |
| Osbpl8 |
T |
A |
10: 111,276,475 (GRCm38) |
Y484N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,591,969 (GRCm38) |
N1308D |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,485,748 (GRCm38) |
E197V |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,681,572 (GRCm38) |
D204N |
possibly damaging |
Het |
| Plxna4 |
T |
G |
6: 32,197,091 (GRCm38) |
T1190P |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,523,987 (GRCm38) |
Y136C |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,617,725 (GRCm38) |
N1411K |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,676,963 (GRCm38) |
C143R |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,951,346 (GRCm38) |
T290A |
probably benign |
Het |
| Sycp1 |
T |
A |
3: 102,865,105 (GRCm38) |
K629I |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,310,028 (GRCm38) |
E210G |
probably damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,188 (GRCm38) |
D189G |
probably benign |
Het |
| Tmem269 |
G |
A |
4: 119,205,679 (GRCm38) |
P254S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,721,549 (GRCm38) |
F767I |
probably damaging |
Het |
| Ube2q2 |
C |
A |
9: 55,195,473 (GRCm38) |
A331D |
|
Het |
| Usp1 |
A |
G |
4: 98,934,780 (GRCm38) |
Y777C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,961,892 (GRCm38) |
N245D |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 22,883,356 (GRCm38) |
Q269L |
probably benign |
Het |
| Wfdc11 |
T |
A |
2: 164,665,453 (GRCm38) |
Y28F |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 107,483,416 (GRCm38) |
D142V |
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 |
|
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 |
|
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'- ACCATACAAAATCTTGGGCAAG -3'
(R):5'- TCTTGAAGCCAGACAGCGTG -3'
Sequencing Primer
(F):5'- CTTGGGCAAGATGGTGGTG -3'
(R):5'- AGACAGCGTGGGCCTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation