Incidental Mutation 'R0835:Tecpr1'
| ID |
77812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
2210010N04Rik |
| MMRRC Submission |
039014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144149410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 339
(N339I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085701
AA Change: N339I
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: N339I
| 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: 98.4%
- 10x: 96.2%
- 20x: 90.7%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
G |
T |
6: 146,855,036 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,065,007 (GRCm39) |
T555A |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,919,862 (GRCm39) |
D1048V |
probably damaging |
Het |
| Abcf2 |
G |
T |
5: 24,779,251 (GRCm39) |
T99N |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,763,980 (GRCm39) |
S2119C |
probably damaging |
Het |
| Adgre4 |
G |
A |
17: 56,106,637 (GRCm39) |
C292Y |
probably damaging |
Het |
| Alk |
A |
G |
17: 72,176,837 (GRCm39) |
F1489S |
probably damaging |
Het |
| Ampd2 |
A |
G |
3: 107,983,818 (GRCm39) |
V573A |
possibly damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,448 (GRCm39) |
F130S |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,801,887 (GRCm39) |
I554N |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,517 (GRCm39) |
H76R |
probably benign |
Het |
| Cdc14a |
G |
T |
3: 116,122,171 (GRCm39) |
N216K |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,130,224 (GRCm39) |
Y69C |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,763,553 (GRCm39) |
R514S |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,662,191 (GRCm39) |
Y390F |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
| Clptm1 |
A |
G |
7: 19,369,599 (GRCm39) |
V437A |
possibly damaging |
Het |
| Coro2b |
T |
C |
9: 62,333,119 (GRCm39) |
N422S |
possibly damaging |
Het |
| Coro7 |
T |
C |
16: 4,450,118 (GRCm39) |
E577G |
probably benign |
Het |
| Crh |
G |
A |
3: 19,748,528 (GRCm39) |
P38L |
probably benign |
Het |
| Ctif |
T |
A |
18: 75,568,407 (GRCm39) |
D577V |
probably damaging |
Het |
| Deup1 |
T |
A |
9: 15,511,047 (GRCm39) |
Q244L |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,192,581 (GRCm39) |
E171G |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,316 (GRCm39) |
L508F |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,116,642 (GRCm39) |
|
probably null |
Het |
| E2f4 |
C |
T |
8: 106,027,140 (GRCm39) |
Q235* |
probably null |
Het |
| Eif2b3 |
A |
G |
4: 116,916,002 (GRCm39) |
H203R |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,534,101 (GRCm39) |
W77R |
probably damaging |
Het |
| Gpx6 |
C |
T |
13: 21,501,238 (GRCm39) |
P109S |
probably damaging |
Het |
| Gsdmc4 |
A |
T |
15: 63,765,649 (GRCm39) |
V300E |
probably damaging |
Het |
| Gspt1 |
A |
C |
16: 11,056,802 (GRCm39) |
S198A |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,494 (GRCm39) |
N6S |
probably benign |
Het |
| Itpk1 |
C |
T |
12: 102,641,707 (GRCm39) |
V39M |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,961,811 (GRCm39) |
P232Q |
probably damaging |
Het |
| Lamtor4 |
C |
A |
5: 138,257,320 (GRCm39) |
T74K |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,822,665 (GRCm39) |
F492I |
probably benign |
Het |
| Mroh1 |
G |
T |
15: 76,336,083 (GRCm39) |
V1486F |
probably damaging |
Het |
| Myg1 |
G |
A |
15: 102,240,537 (GRCm39) |
V76M |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,322,766 (GRCm39) |
Q65H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,838,790 (GRCm39) |
E487G |
probably damaging |
Het |
| Ncoa5 |
T |
C |
2: 164,844,714 (GRCm39) |
E332G |
probably damaging |
Het |
| Nek6 |
T |
A |
2: 38,459,643 (GRCm39) |
I162N |
possibly damaging |
Het |
| Nwd2 |
C |
A |
5: 63,957,473 (GRCm39) |
R268S |
probably damaging |
Het |
| Or4c11 |
T |
C |
2: 88,695,345 (GRCm39) |
V132A |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,272 (GRCm39) |
I214V |
probably benign |
Het |
| Palm3 |
T |
G |
8: 84,754,776 (GRCm39) |
S141A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,789,536 (GRCm39) |
F728L |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,869,632 (GRCm39) |
V472A |
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,514,576 (GRCm39) |
L35* |
probably null |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Ppp6r2 |
G |
A |
15: 89,152,785 (GRCm39) |
E309K |
possibly damaging |
Het |
| Ptpn6 |
T |
A |
6: 124,704,499 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
T |
C |
9: 89,882,824 (GRCm39) |
V882A |
probably benign |
Het |
| Ryr3 |
T |
G |
2: 112,480,483 (GRCm39) |
E4335D |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,835,958 (GRCm39) |
I892N |
probably damaging |
Het |
| Slc22a2 |
G |
A |
17: 12,831,318 (GRCm39) |
M369I |
probably benign |
Het |
| Sox10 |
A |
T |
15: 79,040,641 (GRCm39) |
Y300N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,352,318 (GRCm39) |
F79L |
probably benign |
Het |
| Sult1b1 |
T |
A |
5: 87,665,311 (GRCm39) |
I208L |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,105,737 (GRCm39) |
N460S |
probably benign |
Het |
| Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,725,105 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
G |
T |
5: 136,086,185 (GRCm39) |
R40S |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,912,824 (GRCm39) |
I25T |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,177,583 (GRCm39) |
Y474H |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,712,246 (GRCm39) |
|
probably null |
Het |
| Wdr36 |
A |
T |
18: 32,982,135 (GRCm39) |
N371I |
possibly damaging |
Het |
| Wnt7b |
A |
G |
15: 85,421,978 (GRCm39) |
F228S |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
| Zan |
T |
G |
5: 137,406,659 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,942,559 (GRCm39) |
D578G |
possibly damaging |
Het |
| Zfyve19 |
T |
A |
2: 119,041,266 (GRCm39) |
S61T |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,575,866 (GRCm39) |
D405G |
probably 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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-10-16 |
Incidental Mutation