Incidental Mutation 'R1833:Tecpr1'
ID |
204941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
039860-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1833 (G1)
|
Quality Score |
159 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144145426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 607
(Q607R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: Q607R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: Q607R
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: ENSMUST00000153103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156129
|
Meta Mutation Damage Score |
0.2560 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
Validation Efficiency |
99% (83/84) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
4930438A08Rik |
C |
T |
11: 58,179,214 (GRCm39) |
Q183* |
probably null |
Het |
9230009I02Rik |
A |
G |
11: 50,982,293 (GRCm39) |
|
noncoding transcript |
Het |
Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,613,797 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Arid4a |
C |
T |
12: 71,122,240 (GRCm39) |
L874F |
possibly damaging |
Het |
Bcas3 |
G |
A |
11: 85,474,775 (GRCm39) |
V317I |
probably benign |
Het |
Ccr1 |
T |
A |
9: 123,764,126 (GRCm39) |
I135F |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,747,005 (GRCm39) |
E547G |
possibly damaging |
Het |
Ces3b |
T |
A |
8: 105,812,271 (GRCm39) |
D173E |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,244,949 (GRCm39) |
L1197S |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 95,968,983 (GRCm39) |
L1175P |
probably damaging |
Het |
Cyp4f17 |
T |
C |
17: 32,743,184 (GRCm39) |
F286L |
probably benign |
Het |
Dclre1a |
C |
T |
19: 56,529,932 (GRCm39) |
|
probably null |
Het |
Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,196,511 (GRCm39) |
T560A |
probably benign |
Het |
Dusp12 |
T |
C |
1: 170,702,022 (GRCm39) |
M326V |
probably benign |
Het |
Eif3k |
T |
C |
7: 28,670,852 (GRCm39) |
I180V |
probably benign |
Het |
Erc1 |
A |
G |
6: 119,720,390 (GRCm39) |
I437T |
possibly damaging |
Het |
Farp2 |
T |
A |
1: 93,504,086 (GRCm39) |
|
probably benign |
Het |
Foxa3 |
A |
G |
7: 18,748,499 (GRCm39) |
L209P |
probably damaging |
Het |
Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
Gen1 |
A |
T |
12: 11,298,352 (GRCm39) |
|
probably benign |
Het |
Gm10305 |
A |
G |
4: 99,161,363 (GRCm39) |
T91A |
unknown |
Het |
Gm14412 |
T |
C |
2: 177,007,583 (GRCm39) |
D104G |
probably benign |
Het |
Gm6900 |
T |
C |
7: 10,390,515 (GRCm39) |
|
noncoding transcript |
Het |
Gpx1 |
A |
T |
9: 108,216,555 (GRCm39) |
Y15F |
possibly damaging |
Het |
H2-M10.3 |
T |
C |
17: 36,678,387 (GRCm39) |
Y146C |
probably damaging |
Het |
H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
Hephl1 |
T |
C |
9: 14,988,224 (GRCm39) |
Y628C |
probably damaging |
Het |
Hspa5 |
T |
A |
2: 34,666,065 (GRCm39) |
Y636* |
probably null |
Het |
Htt |
A |
G |
5: 35,063,092 (GRCm39) |
|
probably benign |
Het |
Idh1 |
T |
C |
1: 65,200,273 (GRCm39) |
I364V |
probably benign |
Het |
Itgae |
G |
T |
11: 73,007,988 (GRCm39) |
A423S |
possibly damaging |
Het |
Kng2 |
T |
C |
16: 22,830,802 (GRCm39) |
N169S |
possibly damaging |
Het |
Larp4b |
C |
T |
13: 9,201,235 (GRCm39) |
T369I |
possibly damaging |
Het |
Lcor |
T |
C |
19: 41,573,387 (GRCm39) |
I714T |
probably benign |
Het |
Lhfpl7 |
A |
G |
5: 113,382,435 (GRCm39) |
|
probably benign |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Magi2 |
G |
T |
5: 19,432,455 (GRCm39) |
G57C |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,720,761 (GRCm39) |
H2291Q |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,631,652 (GRCm39) |
|
probably null |
Het |
Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
Msx2 |
A |
T |
13: 53,622,221 (GRCm39) |
M263K |
probably damaging |
Het |
Nectin2 |
G |
T |
7: 19,451,633 (GRCm39) |
P467H |
probably damaging |
Het |
Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
Nlrp4b |
A |
T |
7: 10,459,863 (GRCm39) |
M455L |
probably benign |
Het |
Oaz3 |
TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG |
TGGAGGCAGGAGCACGGGAGGCAG |
3: 94,343,349 (GRCm39) |
|
probably benign |
Het |
Or10ad1b |
T |
A |
15: 98,124,846 (GRCm39) |
I227F |
probably damaging |
Het |
Or4c10 |
T |
A |
2: 89,760,645 (GRCm39) |
L164* |
probably null |
Het |
Pcx |
T |
A |
19: 4,669,132 (GRCm39) |
V710E |
probably damaging |
Het |
Pkn2 |
C |
T |
3: 142,527,408 (GRCm39) |
R347Q |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
Qsox1 |
C |
T |
1: 155,666,791 (GRCm39) |
G233S |
probably benign |
Het |
Rbl1 |
T |
A |
2: 157,037,475 (GRCm39) |
N224I |
probably damaging |
Het |
Rspry1 |
A |
G |
8: 95,362,116 (GRCm39) |
T132A |
probably damaging |
Het |
Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,895,540 (GRCm39) |
L331H |
probably benign |
Het |
Sf3b3 |
T |
A |
8: 111,544,198 (GRCm39) |
Q814L |
probably benign |
Het |
Slc19a2 |
T |
G |
1: 164,089,753 (GRCm39) |
Y190D |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 109,982,879 (GRCm39) |
H204Q |
possibly damaging |
Het |
Sox6 |
T |
C |
7: 115,376,328 (GRCm39) |
K135E |
probably damaging |
Het |
Tgfb1i1 |
A |
G |
7: 127,848,670 (GRCm39) |
|
probably benign |
Het |
Tirap |
T |
G |
9: 35,099,999 (GRCm39) |
R228S |
probably benign |
Het |
Trp53bp2 |
T |
A |
1: 182,256,581 (GRCm39) |
H50Q |
probably damaging |
Het |
Try4 |
A |
G |
6: 41,280,365 (GRCm39) |
H63R |
probably damaging |
Het |
Vmn2r25 |
G |
A |
6: 123,816,643 (GRCm39) |
P313S |
probably benign |
Het |
Vps26a |
A |
C |
10: 62,294,825 (GRCm39) |
L250V |
probably benign |
Het |
Vwf |
A |
G |
6: 125,619,000 (GRCm39) |
H1226R |
probably benign |
Het |
Wdtc1 |
TCC |
TC |
4: 133,036,053 (GRCm39) |
|
probably benign |
Het |
Zc3hav1l |
A |
T |
6: 38,274,881 (GRCm39) |
|
probably benign |
Het |
Zfp119b |
T |
G |
17: 56,246,271 (GRCm39) |
H305P |
probably damaging |
Het |
Zfp326 |
C |
T |
5: 106,039,035 (GRCm39) |
Q134* |
probably null |
Het |
Zfp975 |
C |
T |
7: 42,311,263 (GRCm39) |
R450Q |
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,333,032 (GRCm39) |
M313K |
probably benign |
Het |
Zscan5b |
T |
C |
7: 6,241,965 (GRCm39) |
S395P |
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 |
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 |
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'- TGATTCTTTAACCTTGGGACTGC -3'
(R):5'- GTCAAGGTGACTGTCAGACG -3'
Sequencing Primer
(F):5'- ATACGGCAGTGCGATCAC -3'
(R):5'- TGACTGTCAGACGGGCCATC -3'
|
Posted On |
2014-06-23 |