Incidental Mutation 'R1597:Tecpr1'
| ID |
175866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
039634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144214310 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 256
(I256T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: I256T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: I256T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
100% (77/77) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
T |
19: 34,252,583 (GRCm38) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,914,449 (GRCm38) |
N748S |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,047,167 (GRCm38) |
I77N |
probably damaging |
Het |
| Ap1s1 |
A |
T |
5: 137,043,241 (GRCm38) |
M20K |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,751,435 (GRCm38) |
|
probably null |
Het |
| Atp1b1 |
G |
T |
1: 164,438,320 (GRCm38) |
R291S |
probably damaging |
Het |
| Birc7 |
T |
C |
2: 180,929,181 (GRCm38) |
V12A |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,363,237 (GRCm38) |
V259A |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 102,650,711 (GRCm38) |
N434K |
probably benign |
Het |
| Cel |
G |
T |
2: 28,560,467 (GRCm38) |
|
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,395,078 (GRCm38) |
K349E |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 25,749,741 (GRCm38) |
V315A |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 118,103,498 (GRCm38) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,704,647 (GRCm38) |
T441A |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,183,955 (GRCm38) |
I286N |
probably damaging |
Het |
| Fbxl17 |
T |
C |
17: 63,487,818 (GRCm38) |
K423R |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,654,519 (GRCm38) |
T856A |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,493,901 (GRCm38) |
E64G |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,095,797 (GRCm38) |
N190I |
probably damaging |
Het |
| Ifngr1 |
C |
T |
10: 19,609,342 (GRCm38) |
T363M |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,946,863 (GRCm38) |
T690A |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,994,009 (GRCm38) |
E485G |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,292,991 (GRCm38) |
I203M |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,201,211 (GRCm38) |
|
probably null |
Het |
| Lrch3 |
C |
T |
16: 32,950,411 (GRCm38) |
Q128* |
probably null |
Het |
| Lrriq4 |
C |
G |
3: 30,650,888 (GRCm38) |
P355R |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 4,998,752 (GRCm38) |
H551Q |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,483,226 (GRCm38) |
F763L |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 35,845,866 (GRCm38) |
V55E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,797,945 (GRCm38) |
N92K |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,943,711 (GRCm38) |
S667P |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,835,080 (GRCm38) |
Y15N |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,455,129 (GRCm38) |
M197L |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,807,140 (GRCm38) |
T844I |
probably benign |
Het |
| Nlrc3 |
T |
A |
16: 3,963,995 (GRCm38) |
R517W |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,368,997 (GRCm38) |
I227F |
probably damaging |
Het |
| Olfr68 |
A |
G |
7: 103,778,060 (GRCm38) |
F95S |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,773,900 (GRCm38) |
N73D |
probably damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,491,767 (GRCm38) |
R717G |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,436,600 (GRCm38) |
M1702L |
probably benign |
Het |
| Plxna2 |
A |
C |
1: 194,749,306 (GRCm38) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,739,929 (GRCm38) |
M1221T |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,326,101 (GRCm38) |
D384G |
probably damaging |
Het |
| Ppl |
T |
A |
16: 5,107,574 (GRCm38) |
H67L |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,867,023 (GRCm38) |
L63S |
probably damaging |
Het |
| Psme1 |
A |
G |
14: 55,580,765 (GRCm38) |
T150A |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,658,320 (GRCm38) |
R33C |
probably damaging |
Het |
| Rela |
G |
A |
19: 5,645,331 (GRCm38) |
R295H |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,614,784 (GRCm38) |
V326E |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,562,497 (GRCm38) |
R43L |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,046,332 (GRCm38) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,135,728 (GRCm38) |
A469T |
probably benign |
Het |
| Spaca7 |
G |
T |
8: 12,580,991 (GRCm38) |
E48* |
probably null |
Het |
| Syn3 |
G |
T |
10: 86,135,044 (GRCm38) |
T238K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,579,800 (GRCm38) |
S60P |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,902,989 (GRCm38) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 33,571,483 (GRCm38) |
T588A |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,632,191 (GRCm38) |
|
probably benign |
Het |
| Tmem62 |
G |
A |
2: 120,984,362 (GRCm38) |
A169T |
probably benign |
Het |
| Tnc |
A |
G |
4: 64,006,384 (GRCm38) |
S1026P |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,604,269 (GRCm38) |
S568P |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,827,524 (GRCm38) |
I947F |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 74,863,407 (GRCm38) |
L832Q |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,481,740 (GRCm38) |
|
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,929,766 (GRCm38) |
D1009E |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 116,074,436 (GRCm38) |
E192G |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,624,144 (GRCm38) |
V722A |
possibly damaging |
Het |
| Zfp386 |
T |
C |
12: 116,060,089 (GRCm38) |
S476P |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,638,333 (GRCm38) |
V116D |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,508,247 (GRCm38) |
N1149I |
probably benign |
Het |
|
| Other mutations in Tecpr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Tecpr1
|
APN |
5 |
144,208,593 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01774:Tecpr1
|
APN |
5 |
144,211,540 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01960:Tecpr1
|
APN |
5 |
144,216,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01973:Tecpr1
|
APN |
5 |
144,197,988 (GRCm38) |
splice site |
probably benign |
|
|
IGL02244:Tecpr1
|
APN |
5 |
144,210,003 (GRCm38) |
missense |
probably benign |
|
|
IGL02247:Tecpr1
|
APN |
5 |
144,206,554 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02423:Tecpr1
|
APN |
5 |
144,203,487 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02679:Tecpr1
|
APN |
5 |
144,206,546 (GRCm38) |
missense |
probably benign |
0.28 |
|
larghissimo
|
UTSW |
5 |
144,217,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Tecpr1
|
UTSW |
5 |
144,214,067 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0121:Tecpr1
|
UTSW |
5 |
144,210,199 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0125:Tecpr1
|
UTSW |
5 |
144,197,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0194:Tecpr1
|
UTSW |
5 |
144,218,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0376:Tecpr1
|
UTSW |
5 |
144,207,476 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0441:Tecpr1
|
UTSW |
5 |
144,195,941 (GRCm38) |
missense |
probably benign |
|
|
R0504:Tecpr1
|
UTSW |
5 |
144,214,081 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0538:Tecpr1
|
UTSW |
5 |
144,206,274 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0586:Tecpr1
|
UTSW |
5 |
144,217,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0607:Tecpr1
|
UTSW |
5 |
144,212,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0608:Tecpr1
|
UTSW |
5 |
144,211,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0656:Tecpr1
|
UTSW |
5 |
144,214,053 (GRCm38) |
splice site |
probably null |
|
|
R0835:Tecpr1
|
UTSW |
5 |
144,212,592 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1080:Tecpr1
|
UTSW |
5 |
144,216,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1394:Tecpr1
|
UTSW |
5 |
144,206,539 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1663:Tecpr1
|
UTSW |
5 |
144,197,944 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1785:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1786:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1833:Tecpr1
|
UTSW |
5 |
144,208,608 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1883:Tecpr1
|
UTSW |
5 |
144,206,529 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1988:Tecpr1
|
UTSW |
5 |
144,204,697 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2130:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2131:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2132:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2133:Tecpr1
|
UTSW |
5 |
144,208,645 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2172:Tecpr1
|
UTSW |
5 |
144,211,456 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2172:Tecpr1
|
UTSW |
5 |
144,196,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2290:Tecpr1
|
UTSW |
5 |
144,214,063 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3691:Tecpr1
|
UTSW |
5 |
144,209,979 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4027:Tecpr1
|
UTSW |
5 |
144,206,259 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4587:Tecpr1
|
UTSW |
5 |
144,212,590 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4684:Tecpr1
|
UTSW |
5 |
144,207,437 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4864:Tecpr1
|
UTSW |
5 |
144,214,117 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4932:Tecpr1
|
UTSW |
5 |
144,204,658 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4955:Tecpr1
|
UTSW |
5 |
144,217,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5043:Tecpr1
|
UTSW |
5 |
144,197,854 (GRCm38) |
splice site |
probably null |
|
|
R5459:Tecpr1
|
UTSW |
5 |
144,207,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5579:Tecpr1
|
UTSW |
5 |
144,214,344 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5677:Tecpr1
|
UTSW |
5 |
144,218,633 (GRCm38) |
nonsense |
probably null |
|
|
R5679:Tecpr1
|
UTSW |
5 |
144,207,423 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5802:Tecpr1
|
UTSW |
5 |
144,206,546 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6000:Tecpr1
|
UTSW |
5 |
144,211,421 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6022:Tecpr1
|
UTSW |
5 |
144,199,191 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6114:Tecpr1
|
UTSW |
5 |
144,204,640 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6251:Tecpr1
|
UTSW |
5 |
144,198,576 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6372:Tecpr1
|
UTSW |
5 |
144,216,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6493:Tecpr1
|
UTSW |
5 |
144,209,974 (GRCm38) |
missense |
probably benign |
|
|
R7276:Tecpr1
|
UTSW |
5 |
144,217,020 (GRCm38) |
nonsense |
probably null |
|
|
R7314:Tecpr1
|
UTSW |
5 |
144,217,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7375:Tecpr1
|
UTSW |
5 |
144,208,599 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7632:Tecpr1
|
UTSW |
5 |
144,218,726 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7702:Tecpr1
|
UTSW |
5 |
144,203,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8135:Tecpr1
|
UTSW |
5 |
144,198,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8406:Tecpr1
|
UTSW |
5 |
144,200,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8844:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8856:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8857:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8866:Tecpr1
|
UTSW |
5 |
144,216,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8903:Tecpr1
|
UTSW |
5 |
144,214,027 (GRCm38) |
intron |
probably benign |
|
|
R8926:Tecpr1
|
UTSW |
5 |
144,216,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9218:Tecpr1
|
UTSW |
5 |
144,217,231 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9423:Tecpr1
|
UTSW |
5 |
144,218,578 (GRCm38) |
missense |
probably damaging |
0.98 |
|
RF001:Tecpr1
|
UTSW |
5 |
144,217,386 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Tecpr1
|
UTSW |
5 |
144,218,591 (GRCm38) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAACTTCCTGCCAGTCCCCAAAG -3'
(R):5'- GGCCAAAATCCAGGCATTTTCTCAC -3'
Sequencing Primer
(F):5'- AGAAACCCAGGCGGTCTC -3'
(R):5'- TCTCACCAAGATGTGAGTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation