Incidental Mutation 'R4864:Tecpr1'
| ID |
374741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| MMRRC Submission |
042474-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4864 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144150935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 291
(N291I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: N291I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: N291I
| 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: ENSMUST00000136018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156129
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
99% (93/94) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,066,683 (GRCm39) |
|
probably null |
Het |
| Adora3 |
T |
A |
3: 105,815,131 (GRCm39) |
Y148N |
probably damaging |
Het |
| Ahnak2 |
G |
A |
12: 112,740,040 (GRCm39) |
S538L |
probably damaging |
Het |
| Aox3 |
T |
G |
1: 58,215,646 (GRCm39) |
V1026G |
probably damaging |
Het |
| Ap3d1 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
10: 80,548,612 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
G |
A |
18: 61,627,996 (GRCm39) |
A649V |
probably benign |
Het |
| Atp5f1a |
G |
A |
18: 77,869,015 (GRCm39) |
R413H |
possibly damaging |
Het |
| Bace1 |
A |
T |
9: 45,766,109 (GRCm39) |
I179F |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,717,123 (GRCm39) |
F242L |
probably damaging |
Het |
| Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,466,736 (GRCm39) |
T148A |
probably benign |
Het |
| Cenpc1 |
T |
A |
5: 86,193,180 (GRCm39) |
L236F |
probably damaging |
Het |
| Col13a1 |
C |
T |
10: 61,698,439 (GRCm39) |
E541K |
unknown |
Het |
| Copg1 |
T |
A |
6: 87,866,678 (GRCm39) |
C44S |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,047,595 (GRCm39) |
E380G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,404,460 (GRCm39) |
D2694G |
probably damaging |
Het |
| Dgkd |
A |
T |
1: 87,844,560 (GRCm39) |
N242I |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,313,416 (GRCm39) |
V4248I |
probably damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,411,607 (GRCm39) |
K376* |
probably null |
Het |
| Eef1d |
A |
G |
15: 75,775,255 (GRCm39) |
S135P |
possibly damaging |
Het |
| Epc2 |
T |
A |
2: 49,427,177 (GRCm39) |
S574T |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,455,967 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,289,839 (GRCm39) |
V13E |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,214,317 (GRCm39) |
C765S |
possibly damaging |
Het |
| Fbxo5 |
A |
T |
10: 5,752,392 (GRCm39) |
C74S |
probably benign |
Het |
| Fbxw9 |
T |
C |
8: 85,792,530 (GRCm39) |
S322P |
probably damaging |
Het |
| Fmo5 |
T |
A |
3: 97,553,195 (GRCm39) |
I381N |
probably damaging |
Het |
| Fmo6 |
T |
C |
1: 162,751,964 (GRCm39) |
D175G |
probably benign |
Het |
| Gm7361 |
A |
G |
5: 26,467,008 (GRCm39) |
|
probably null |
Het |
| Gm9961 |
G |
A |
16: 11,720,899 (GRCm39) |
|
probably benign |
Het |
| Golga7b |
T |
A |
19: 42,255,405 (GRCm39) |
|
probably null |
Het |
| Gorab |
T |
C |
1: 163,213,967 (GRCm39) |
E321G |
probably benign |
Het |
| Gpx1 |
T |
A |
9: 108,216,594 (GRCm39) |
V28E |
probably benign |
Het |
| H2-T15 |
T |
A |
17: 36,369,253 (GRCm39) |
|
probably benign |
Het |
| H3c14 |
T |
C |
3: 96,154,575 (GRCm39) |
I125T |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,178,318 (GRCm39) |
S8G |
probably benign |
Het |
| Iqsec1 |
C |
T |
6: 90,641,038 (GRCm39) |
R1026H |
probably damaging |
Het |
| Kdm4b |
A |
T |
17: 56,660,091 (GRCm39) |
Y86F |
probably benign |
Het |
| Kprp |
C |
T |
3: 92,731,829 (GRCm39) |
R407Q |
unknown |
Het |
| Lamb1 |
C |
T |
12: 31,371,005 (GRCm39) |
T1400M |
probably benign |
Het |
| Lcor |
G |
T |
19: 41,573,803 (GRCm39) |
A853S |
probably benign |
Het |
| Lrriq3 |
T |
A |
3: 154,893,447 (GRCm39) |
Y383N |
possibly damaging |
Het |
| Map3k21 |
T |
C |
8: 126,654,294 (GRCm39) |
I371T |
probably benign |
Het |
| Mllt1 |
A |
T |
17: 57,212,819 (GRCm39) |
F105I |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,378,312 (GRCm39) |
M451T |
probably damaging |
Het |
| Nfkbiz |
A |
C |
16: 55,638,787 (GRCm39) |
N224K |
probably damaging |
Het |
| Nlrp4d |
A |
G |
7: 10,115,088 (GRCm39) |
V531A |
noncoding transcript |
Het |
| Noc3l |
A |
G |
19: 38,778,081 (GRCm39) |
Y778H |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,802,403 (GRCm39) |
A734S |
possibly damaging |
Het |
| Or2ag18 |
T |
C |
7: 106,405,171 (GRCm39) |
Y166C |
probably damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,039 (GRCm39) |
I212F |
probably damaging |
Het |
| Or9g20 |
A |
G |
2: 85,630,033 (GRCm39) |
Y194H |
probably damaging |
Het |
| Or9r7 |
T |
A |
10: 129,962,756 (GRCm39) |
R57* |
probably null |
Het |
| Pate4 |
A |
T |
9: 35,519,535 (GRCm39) |
C52S |
probably damaging |
Het |
| Pecr |
C |
A |
1: 72,316,490 (GRCm39) |
A72S |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,142,004 (GRCm39) |
N578S |
probably benign |
Het |
| Ppm1a |
T |
C |
12: 72,830,738 (GRCm39) |
S88P |
probably benign |
Het |
| Ppm1l |
T |
A |
3: 69,449,844 (GRCm39) |
|
probably benign |
Het |
| Prdm13 |
A |
G |
4: 21,685,543 (GRCm39) |
S86P |
unknown |
Het |
| Prph2 |
T |
C |
17: 47,221,848 (GRCm39) |
S76P |
probably benign |
Het |
| Sarnp |
G |
A |
10: 128,669,212 (GRCm39) |
R23H |
probably damaging |
Het |
| Septin1 |
T |
C |
7: 126,816,064 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
T |
C |
3: 75,520,481 (GRCm39) |
I26T |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,646,715 (GRCm39) |
I616T |
probably benign |
Het |
| Slc2a10 |
T |
C |
2: 165,356,541 (GRCm39) |
F67S |
probably benign |
Het |
| Slc38a6 |
T |
A |
12: 73,390,424 (GRCm39) |
|
probably null |
Het |
| Smg6 |
T |
C |
11: 74,820,988 (GRCm39) |
S420P |
possibly damaging |
Het |
| Srp72 |
T |
A |
5: 77,132,009 (GRCm39) |
H229Q |
probably benign |
Het |
| Ston2 |
A |
G |
12: 91,615,448 (GRCm39) |
V320A |
possibly damaging |
Het |
| Stx3 |
A |
T |
19: 11,754,515 (GRCm39) |
I269N |
possibly damaging |
Het |
| Tdg-ps |
A |
G |
15: 82,400,843 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem177 |
A |
G |
1: 119,838,553 (GRCm39) |
V42A |
probably benign |
Het |
| Trim26 |
T |
A |
17: 37,168,886 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,196,980 (GRCm39) |
S456P |
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,988,021 (GRCm39) |
Y984C |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,766,872 (GRCm39) |
E82G |
possibly damaging |
Het |
| Uncx |
T |
C |
5: 139,529,875 (GRCm39) |
S43P |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,332 (GRCm39) |
V111A |
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,907 (GRCm39) |
I255V |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,628,000 (GRCm39) |
T487A |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,197,682 (GRCm39) |
|
probably benign |
Het |
| Zfp27 |
G |
T |
7: 29,594,261 (GRCm39) |
P568Q |
probably damaging |
Het |
| Zfp382 |
A |
T |
7: 29,832,885 (GRCm39) |
I179F |
possibly 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 |
|
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 |
|
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'- AGTAATAAACACGGCTGTTGAGC -3'
(R):5'- CTTATATGGGCCACCCTCTG -3'
Sequencing Primer
(F):5'- AAAATTGGGTCCCCGACACTTTG -3'
(R):5'- TCTGGGAGGGACAGGCTCTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation