Incidental Mutation 'R2172:Tecpr1'
| ID |
237547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
040174-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2172 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144211456 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 377
(V377E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: V377E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: V377E
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 37,990,560 (GRCm38) |
E441V |
probably damaging |
Het |
| Arfip2 |
T |
A |
7: 105,637,988 (GRCm38) |
D64V |
probably damaging |
Het |
| Atg9a |
C |
A |
1: 75,185,685 (GRCm38) |
R527L |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,590,548 (GRCm38) |
I308L |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,996,581 (GRCm38) |
Y199F |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,109,992 (GRCm38) |
|
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,632,508 (GRCm38) |
L902H |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,124,512 (GRCm38) |
Y492C |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 66,072,779 (GRCm38) |
H1783N |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 105,988,998 (GRCm38) |
V320A |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,045,502 (GRCm38) |
Y282H |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,911,562 (GRCm38) |
P1114S |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,700,133 (GRCm38) |
S560P |
probably damaging |
Het |
| Gm14295 |
G |
A |
2: 176,811,102 (GRCm38) |
R795Q |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,382,127 (GRCm38) |
V51I |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,222,440 (GRCm38) |
|
probably null |
Het |
| Hecw1 |
T |
A |
13: 14,377,706 (GRCm38) |
I103F |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,887,437 (GRCm38) |
N685K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,382,816 (GRCm38) |
D244E |
probably benign |
Het |
| Hydin |
A |
G |
8: 110,582,049 (GRCm38) |
E3989G |
probably benign |
Het |
| Ibsp |
T |
C |
5: 104,310,430 (GRCm38) |
Y278H |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,759,340 (GRCm38) |
N291K |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,723,571 (GRCm38) |
T149A |
possibly damaging |
Het |
| Ints5 |
C |
T |
19: 8,896,282 (GRCm38) |
T535I |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 44,902,539 (GRCm38) |
L268P |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,965,810 (GRCm38) |
T609S |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,602,682 (GRCm38) |
V429A |
probably benign |
Het |
| Lsm3 |
T |
C |
6: 91,522,272 (GRCm38) |
V87A |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,703,438 (GRCm38) |
P11R |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,307,932 (GRCm38) |
V2726L |
probably damaging |
Het |
| Marveld3 |
A |
C |
8: 109,961,846 (GRCm38) |
S88A |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,548,574 (GRCm38) |
D640G |
probably damaging |
Het |
| Mettl4 |
A |
G |
17: 94,733,163 (GRCm38) |
I399T |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,577,378 (GRCm38) |
L274* |
probably null |
Het |
| Nacc2 |
A |
C |
2: 26,060,223 (GRCm38) |
D500E |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,234,894 (GRCm38) |
M372L |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 108,031,467 (GRCm38) |
I292N |
probably damaging |
Het |
| Otud7b |
T |
G |
3: 96,153,520 (GRCm38) |
|
probably null |
Het |
| Pcx |
G |
A |
19: 4,620,881 (GRCm38) |
R1070H |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,590,994 (GRCm38) |
W1560* |
probably null |
Het |
| Puf60 |
A |
T |
15: 76,070,464 (GRCm38) |
I520N |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,509,200 (GRCm38) |
R143C |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,815,494 (GRCm38) |
Q322* |
probably null |
Het |
| Samd14 |
G |
T |
11: 95,014,391 (GRCm38) |
V10L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,549,844 (GRCm38) |
R909Q |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,296,664 (GRCm38) |
S117P |
probably benign |
Het |
| Sharpin |
C |
A |
15: 76,350,666 (GRCm38) |
|
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,145,122 (GRCm38) |
A494S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,283,774 (GRCm38) |
T375A |
probably benign |
Het |
| Sparc |
G |
A |
11: 55,395,801 (GRCm38) |
Q324* |
probably null |
Het |
| Spopfm2 |
T |
G |
3: 94,176,298 (GRCm38) |
K69Q |
possibly damaging |
Het |
| Srebf1 |
T |
C |
11: 60,206,502 (GRCm38) |
T171A |
probably benign |
Het |
| Srrd |
A |
G |
5: 112,341,122 (GRCm38) |
I54T |
possibly damaging |
Het |
| Tln1 |
T |
A |
4: 43,545,721 (GRCm38) |
H919L |
probably benign |
Het |
| Tm9sf3 |
C |
T |
19: 41,217,420 (GRCm38) |
S516N |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,881,656 (GRCm38) |
T940S |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,644,710 (GRCm38) |
R64C |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,488,847 (GRCm38) |
E174G |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,031,102 (GRCm38) |
T1183A |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,527,843 (GRCm38) |
M1245L |
possibly damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,474,615 (GRCm38) |
Y259C |
probably damaging |
Het |
| Zfp329 |
A |
G |
7: 12,810,767 (GRCm38) |
F277L |
probably damaging |
Het |
| Zfp683 |
C |
T |
4: 134,055,795 (GRCm38) |
T190I |
possibly damaging |
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 |
|
R1597:Tecpr1
|
UTSW |
5 |
144,214,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
144,196,417 (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'- ATGTCTGTAGACCGCCTAGC -3'
(R):5'- TTCTCCAGCACCTGTGGAAG -3'
Sequencing Primer
(F):5'- TCTGTAGACCGCCTAGCTACAG -3'
(R):5'- GGGGTAGGAGTCCAACTATGTGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation