Incidental Mutation 'IGL02423:Tecpr1'
| ID |
292802 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144140305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 817
(I817F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: I817F
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: I817F
| 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: ENSMUST00000140524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
| Coding Region Coverage |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,109,832 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,756 (GRCm39) |
R81W |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,983,467 (GRCm39) |
I72V |
probably benign |
Het |
| Banp |
A |
G |
8: 122,733,830 (GRCm39) |
I360V |
probably benign |
Het |
| Bmp8a |
C |
A |
4: 123,210,220 (GRCm39) |
G289C |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,931,911 (GRCm39) |
H94L |
probably damaging |
Het |
| Ccdc137 |
G |
A |
11: 120,350,927 (GRCm39) |
R108H |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,905 (GRCm39) |
N411S |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,483,800 (GRCm39) |
M907V |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,923 (GRCm39) |
W19R |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,032 (GRCm39) |
S2360P |
possibly damaging |
Het |
| Eif2d |
T |
G |
1: 131,081,097 (GRCm39) |
|
probably benign |
Het |
| Epx |
A |
G |
11: 87,762,144 (GRCm39) |
I369T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,378 (GRCm39) |
E648G |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,894,827 (GRCm39) |
P14L |
probably benign |
Het |
| Folr1 |
A |
G |
7: 101,507,732 (GRCm39) |
F236S |
probably benign |
Het |
| Foxj2 |
T |
G |
6: 122,819,732 (GRCm39) |
M540R |
possibly damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,824 (GRCm39) |
T420A |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,498,248 (GRCm39) |
T222S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,740,718 (GRCm39) |
M2163K |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,450 (GRCm39) |
V244A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,391,050 (GRCm39) |
V373D |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,590,987 (GRCm39) |
|
probably benign |
Het |
| Krtap1-3 |
A |
T |
11: 99,481,680 (GRCm39) |
C156S |
unknown |
Het |
| Mab21l3 |
T |
C |
3: 101,726,045 (GRCm39) |
D317G |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,054,539 (GRCm39) |
|
probably null |
Het |
| Nox3 |
T |
C |
17: 3,733,191 (GRCm39) |
H240R |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,164,858 (GRCm39) |
S218T |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,397 (GRCm39) |
V216I |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,392 (GRCm39) |
V590A |
possibly damaging |
Het |
| Pim3 |
T |
C |
15: 88,747,734 (GRCm39) |
V200A |
probably benign |
Het |
| Plekha3 |
T |
C |
2: 76,510,524 (GRCm39) |
F20L |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,118 (GRCm39) |
R120S |
possibly damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,906,537 (GRCm39) |
D364A |
probably benign |
Het |
| Psd |
A |
G |
19: 46,302,943 (GRCm39) |
F155L |
possibly damaging |
Het |
| Rbm22 |
T |
C |
18: 60,704,891 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,760,084 (GRCm39) |
F1556I |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,685 (GRCm39) |
A465T |
probably benign |
Het |
| Sdf2 |
A |
G |
11: 78,141,844 (GRCm39) |
S60G |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,776 (GRCm39) |
I400T |
probably damaging |
Het |
| Ski |
T |
C |
4: 155,244,191 (GRCm39) |
D478G |
probably damaging |
Het |
| Slc12a7 |
A |
T |
13: 73,911,882 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,211,322 (GRCm39) |
T1074A |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,059,298 (GRCm39) |
T239A |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,928,419 (GRCm39) |
H84Y |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,318,295 (GRCm39) |
Q444K |
probably benign |
Het |
| Tep1 |
G |
T |
14: 51,082,077 (GRCm39) |
Q1159K |
possibly damaging |
Het |
| Tmem39b |
G |
A |
4: 129,572,442 (GRCm39) |
H387Y |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,907 (GRCm39) |
H174R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,535,617 (GRCm39) |
V35134I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,304,900 (GRCm39) |
I378V |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,889,968 (GRCm39) |
E42G |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,665 (GRCm39) |
H440Q |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zcchc7 |
T |
A |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,228 (GRCm39) |
H284N |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,120 (GRCm39) |
H380R |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation