Incidental Mutation 'R5802:Tecpr1'
| ID |
448779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| MMRRC Submission |
043391-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144143364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 670
(N670K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: N670K
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: N670K
| 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: ENSMUST00000153103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
| Meta Mutation Damage Score |
0.1660 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 12,021,188 (GRCm39) |
D383V |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
| Abca4 |
A |
T |
3: 121,847,881 (GRCm39) |
L67F |
probably damaging |
Het |
| Abcc9 |
C |
A |
6: 142,602,402 (GRCm39) |
|
probably null |
Het |
| Atp2a3 |
T |
C |
11: 72,863,708 (GRCm39) |
V175A |
probably damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,731 (GRCm39) |
D169V |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,307 (GRCm39) |
E90G |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,365,716 (GRCm39) |
I155N |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,178,458 (GRCm39) |
N519D |
probably damaging |
Het |
| Clgn |
T |
C |
8: 84,152,243 (GRCm39) |
S582P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,006 (GRCm39) |
F280S |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,729,690 (GRCm39) |
T764M |
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,337,100 (GRCm39) |
S4T |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,073,086 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,927,272 (GRCm39) |
V3839I |
possibly damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,550 (GRCm39) |
Y286H |
probably benign |
Het |
| Dynap |
T |
A |
18: 70,374,073 (GRCm39) |
D151V |
unknown |
Het |
| Ednrb |
A |
G |
14: 104,059,150 (GRCm39) |
F292S |
probably damaging |
Het |
| Eef1a1 |
A |
G |
9: 78,386,318 (GRCm39) |
S396P |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,006,582 (GRCm39) |
F324S |
probably benign |
Het |
| Fbxw11 |
T |
A |
11: 32,661,790 (GRCm39) |
S56T |
probably benign |
Het |
| Gm17535 |
G |
C |
9: 3,035,758 (GRCm39) |
V209L |
probably benign |
Homo |
| Gm5592 |
C |
T |
7: 40,868,529 (GRCm39) |
|
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,919,373 (GRCm39) |
W51* |
probably null |
Het |
| H2-T9 |
A |
G |
17: 36,422,179 (GRCm39) |
|
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,475,879 (GRCm39) |
Y146C |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,370,160 (GRCm39) |
C2982F |
probably damaging |
Het |
| Hnrnpa3 |
T |
A |
2: 75,495,400 (GRCm39) |
N309K |
unknown |
Het |
| Hydin |
A |
T |
8: 111,178,692 (GRCm39) |
I1096F |
possibly damaging |
Het |
| Klf12 |
A |
G |
14: 100,260,330 (GRCm39) |
V133A |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,931,875 (GRCm39) |
Y848N |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,026,270 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ltn1 |
T |
G |
16: 87,212,569 (GRCm39) |
H664P |
probably benign |
Het |
| Lypd6 |
C |
T |
2: 50,063,613 (GRCm39) |
T40I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,311,380 (GRCm39) |
T1817S |
probably benign |
Het |
| Nub1 |
A |
C |
5: 24,907,439 (GRCm39) |
Y350S |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,874 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Ptpru |
C |
T |
4: 131,515,688 (GRCm39) |
E827K |
possibly damaging |
Het |
| Rap1a |
A |
G |
3: 105,653,252 (GRCm39) |
Y32H |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,527,832 (GRCm39) |
N1143S |
possibly damaging |
Het |
| Rbl1 |
T |
C |
2: 157,003,353 (GRCm39) |
T859A |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,906,188 (GRCm39) |
L117P |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,025,926 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
C |
3: 15,886,240 (GRCm39) |
M379V |
probably benign |
Het |
| Slc6a4 |
C |
T |
11: 76,910,062 (GRCm39) |
T439M |
probably damaging |
Het |
| Srsf12 |
G |
T |
4: 33,230,929 (GRCm39) |
R141L |
probably damaging |
Het |
| Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
| Tcstv2c |
G |
A |
13: 120,616,449 (GRCm39) |
S96N |
possibly damaging |
Het |
| Tgds |
T |
C |
14: 118,370,119 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,815,060 (GRCm39) |
S38P |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,557,188 (GRCm39) |
E812G |
probably damaging |
Het |
| Trmt10b |
T |
A |
4: 45,314,236 (GRCm39) |
|
probably benign |
Het |
| Wapl |
A |
G |
14: 34,414,277 (GRCm39) |
T380A |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,255,914 (GRCm39) |
T829S |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 128,857,479 (GRCm39) |
P666L |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,049 (GRCm39) |
T150A |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
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 |
|
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 |
|
|
R7276:Tecpr1
|
UTSW |
5 |
144,153,838 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGGTCTCTTCTCGCTAAGCC -3'
(R):5'- ATTCAACTCCCAAAAGCGGTG -3'
Sequencing Primer
(F):5'- TTCTCGCTAAGCCCATGAGGAC -3'
(R):5'- AATTCCGGGCTTTGCTAGACAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation