Incidental Mutation 'R6251:Tecpr1'
ID |
506221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
044368-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6251 (G1)
|
Quality Score |
205.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 144135394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1020
(V1020L)
|
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 |
probably damaging
Transcript: ENSMUST00000085701
AA Change: V1020L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: V1020L
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: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,445 (GRCm39) |
S36P |
probably damaging |
Het |
Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
Arhgap26 |
A |
T |
18: 39,490,880 (GRCm39) |
S328C |
probably null |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Asb3 |
G |
A |
11: 31,005,559 (GRCm39) |
A192T |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,126,573 (GRCm39) |
M1110L |
possibly damaging |
Het |
Cacna1i |
T |
C |
15: 80,220,883 (GRCm39) |
I175T |
probably damaging |
Het |
Car15 |
A |
T |
16: 17,655,227 (GRCm39) |
I71N |
probably benign |
Het |
Casq1 |
T |
A |
1: 172,044,407 (GRCm39) |
Y140F |
probably benign |
Het |
Ccdc93 |
C |
T |
1: 121,362,269 (GRCm39) |
T17M |
possibly damaging |
Het |
Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
Ciart |
G |
A |
3: 95,788,323 (GRCm39) |
|
probably benign |
Het |
Cul5 |
A |
T |
9: 53,558,094 (GRCm39) |
V170D |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,038,917 (GRCm39) |
D224G |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
Daglb |
T |
A |
5: 143,475,689 (GRCm39) |
L383Q |
probably damaging |
Het |
Dazap2 |
T |
G |
15: 100,514,864 (GRCm39) |
H28Q |
possibly damaging |
Het |
Dnttip2 |
A |
T |
3: 122,068,905 (GRCm39) |
D40V |
probably benign |
Het |
Dynlt2b |
T |
A |
16: 32,245,727 (GRCm39) |
D125E |
possibly damaging |
Het |
Epn1 |
G |
T |
7: 5,098,925 (GRCm39) |
D406Y |
probably damaging |
Het |
Epn1 |
G |
T |
7: 5,098,935 (GRCm39) |
R409L |
probably damaging |
Het |
Evc |
T |
C |
5: 37,457,843 (GRCm39) |
T966A |
probably benign |
Het |
Extl3 |
T |
C |
14: 65,314,375 (GRCm39) |
D269G |
probably damaging |
Het |
Gfra3 |
TGCGC |
TGC |
18: 34,828,864 (GRCm39) |
|
probably null |
Het |
Gpr87 |
A |
T |
3: 59,086,528 (GRCm39) |
F326I |
probably damaging |
Het |
Hivep3 |
C |
A |
4: 119,952,137 (GRCm39) |
P151H |
probably damaging |
Het |
Kcnj14 |
T |
A |
7: 45,467,440 (GRCm39) |
E302V |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 921,693 (GRCm39) |
Y534H |
probably damaging |
Homo |
Map3k5 |
T |
A |
10: 20,014,006 (GRCm39) |
|
probably null |
Het |
Mdn1 |
A |
G |
4: 32,748,590 (GRCm39) |
T4212A |
probably benign |
Het |
Ms4a6d |
A |
T |
19: 11,564,504 (GRCm39) |
S122R |
probably damaging |
Het |
Mtarc1 |
G |
A |
1: 184,527,648 (GRCm39) |
R271W |
probably damaging |
Het |
Nectin3 |
A |
T |
16: 46,215,513 (GRCm39) |
H76Q |
probably damaging |
Het |
Notch1 |
C |
A |
2: 26,364,182 (GRCm39) |
E846D |
possibly damaging |
Het |
Or1e23 |
A |
G |
11: 73,407,534 (GRCm39) |
S164P |
probably benign |
Het |
Or4a67 |
T |
C |
2: 88,598,632 (GRCm39) |
E9G |
probably damaging |
Het |
Or8b36 |
GTTT |
GTTTGCTTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TT |
TTGCTGTGT |
9: 37,937,844 (GRCm39) |
|
probably null |
Het |
Or8b36 |
G |
GGGATTGC |
9: 37,937,833 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TGTTT |
TGTTTGCAGTTT |
9: 37,937,841 (GRCm39) |
|
probably null |
Het |
Or8g18 |
T |
A |
9: 39,149,514 (GRCm39) |
I72F |
possibly damaging |
Het |
Pfkl |
C |
T |
10: 77,825,399 (GRCm39) |
|
probably null |
Het |
Pigz |
T |
C |
16: 31,764,424 (GRCm39) |
V494A |
possibly damaging |
Het |
Pik3r4 |
T |
C |
9: 105,531,247 (GRCm39) |
V516A |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,141 (GRCm39) |
R1104K |
probably benign |
Het |
Rap1a |
A |
T |
3: 105,639,311 (GRCm39) |
L116* |
probably null |
Het |
Rnf114 |
T |
C |
2: 167,356,649 (GRCm39) |
*230R |
probably null |
Het |
Rtl1 |
G |
T |
12: 109,560,083 (GRCm39) |
N585K |
probably benign |
Het |
Serpinb5 |
G |
T |
1: 106,802,795 (GRCm39) |
R110I |
possibly damaging |
Het |
Spink6 |
T |
C |
18: 44,207,498 (GRCm39) |
|
probably null |
Het |
Spopfm1 |
G |
T |
3: 94,173,208 (GRCm39) |
S72I |
probably damaging |
Het |
Stk39 |
A |
T |
2: 68,137,383 (GRCm39) |
|
probably null |
Het |
Tcstv2a |
T |
C |
13: 120,724,907 (GRCm39) |
|
probably benign |
Het |
Tcte1 |
A |
T |
17: 45,846,085 (GRCm39) |
T230S |
probably benign |
Het |
Tmc7 |
T |
C |
7: 118,160,261 (GRCm39) |
Y192C |
possibly damaging |
Het |
Trim63 |
A |
T |
4: 134,050,537 (GRCm39) |
T274S |
probably benign |
Het |
Wdr43 |
G |
A |
17: 71,957,048 (GRCm39) |
|
probably null |
Het |
Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
probably benign |
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 |
R5802:Tecpr1
|
UTSW |
5 |
144,143,364 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
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'- ATCCTGGCAAAGAACAGAGC -3'
(R):5'- TTTGAGTCTCAGCCTCAGAGG -3'
Sequencing Primer
(F):5'- ATGTCCCAGGCTGTTGC -3'
(R):5'- TCTCAGCCTCAGAGGAGAGAG -3'
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Posted On |
2018-03-15 |