Incidental Mutation 'R6251:Tecpr1'
| ID |
506221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr1
|
| Ensembl Gene |
ENSMUSG00000066621 |
| Gene Name |
tectonin beta-propeller repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
044368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6251 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144194442-144223615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 144198576 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1020
(V1020L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060747]
[ENSMUST00000085701]
|
| AlphaFold |
Q80VP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060747
|
| SMART Domains |
Protein: ENSMUSP00000055493
Gene: ENSMUSG00000052271
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
67 |
N/A |
INTRINSIC |
|
HLH
|
78 |
130 |
1.61e-18 |
SMART |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085701
AA Change: V1020L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: V1020L
| 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: ENSMUST00000125672
|
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,610,652 |
S36P |
probably damaging |
Het |
| AF067061 |
T |
C |
13: 120,263,371 |
|
probably benign |
Het |
| Agmo |
A |
G |
12: 37,252,539 |
D125G |
probably damaging |
Het |
| Arhgap26 |
A |
T |
18: 39,357,827 |
S328C |
probably null |
Het |
| Arl6 |
T |
C |
16: 59,618,806 |
D175G |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 31,055,559 |
A192T |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,235,746 |
M1110L |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,336,682 |
I175T |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,837,363 |
I71N |
probably benign |
Het |
| Casq1 |
T |
A |
1: 172,216,840 |
Y140F |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,434,540 |
T17M |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,638,900 |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,881,011 |
|
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,646,794 |
V170D |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,154,716 |
D224G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 71,988,949 |
G964R |
probably damaging |
Het |
| Daglb |
T |
A |
5: 143,489,934 |
L383Q |
probably damaging |
Het |
| Dazap2 |
T |
G |
15: 100,616,983 |
H28Q |
possibly damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,275,256 |
D40V |
probably benign |
Het |
| Epn1 |
G |
T |
7: 5,095,926 |
D406Y |
probably damaging |
Het |
| Epn1 |
G |
T |
7: 5,095,936 |
R409L |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,300,499 |
T966A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,076,926 |
D269G |
probably damaging |
Het |
| Gfra3 |
TGCGC |
TGC |
18: 34,695,811 |
|
probably null |
Het |
| Gm4778 |
G |
T |
3: 94,265,901 |
S72I |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,179,107 |
F326I |
probably damaging |
Het |
| Hivep3 |
C |
A |
4: 120,094,940 |
P151H |
probably damaging |
Het |
| Kcnj14 |
T |
A |
7: 45,818,016 |
E302V |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 921,693 |
Y534H |
probably damaging |
Homo |
| Map3k5 |
T |
A |
10: 20,138,260 |
|
probably null |
Het |
| Marc1 |
G |
A |
1: 184,795,451 |
R271W |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,748,590 |
T4212A |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,587,140 |
S122R |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,395,150 |
H76Q |
probably damaging |
Het |
| Notch1 |
C |
A |
2: 26,474,170 |
E846D |
possibly damaging |
Het |
| Olfr1200 |
T |
C |
2: 88,768,288 |
E9G |
probably damaging |
Het |
| Olfr1537 |
T |
A |
9: 39,238,218 |
I72F |
possibly damaging |
Het |
| Olfr382 |
A |
G |
11: 73,516,708 |
S164P |
probably benign |
Het |
| Olfr883 |
TT |
TTGCTGTGT |
9: 38,026,548 |
|
probably null |
Het |
| Olfr883 |
GTTT |
GTTTGCTTTTT |
9: 38,026,546 |
|
probably null |
Het |
| Olfr883 |
TGTTT |
TGTTTGCAGTTT |
9: 38,026,545 |
|
probably null |
Het |
| Olfr883 |
G |
GGGATTGC |
9: 38,026,537 |
|
probably null |
Het |
| Pfkl |
C |
T |
10: 77,989,565 |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,945,606 |
V494A |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,654,048 |
V516A |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,348,294 |
R1104K |
probably benign |
Het |
| Rap1a |
A |
T |
3: 105,731,995 |
L116* |
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,514,729 |
*230R |
probably null |
Het |
| Rtl1 |
G |
T |
12: 109,593,649 |
N585K |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,875,065 |
R110I |
possibly damaging |
Het |
| Spink6 |
T |
C |
18: 44,074,431 |
|
probably null |
Het |
| Stk39 |
A |
T |
2: 68,307,039 |
|
probably null |
Het |
| Tcte1 |
A |
T |
17: 45,535,159 |
T230S |
probably benign |
Het |
| Tctex1d2 |
T |
A |
16: 32,426,909 |
D125E |
possibly damaging |
Het |
| Tmc7 |
T |
C |
7: 118,561,038 |
Y192C |
possibly damaging |
Het |
| Trim63 |
A |
T |
4: 134,323,226 |
T274S |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,650,053 |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,591 |
I750T |
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 |
|
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 |
144,211,456 (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 |
|
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'- ATCCTGGCAAAGAACAGAGC -3'
(R):5'- TTTGAGTCTCAGCCTCAGAGG -3'
Sequencing Primer
(F):5'- ATGTCCCAGGCTGTTGC -3'
(R):5'- TCTCAGCCTCAGAGGAGAGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation