Incidental Mutation 'IGL01960:Tecpr1'
ID |
182354 |
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 # |
IGL01960
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 144153737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 172
(R172Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: R172Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: R172Q
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196360
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
G |
A |
4: 129,906,177 (GRCm39) |
|
probably benign |
Het |
Adh7 |
T |
C |
3: 137,932,043 (GRCm39) |
I219T |
probably damaging |
Het |
Ankmy1 |
C |
A |
1: 92,799,385 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,885,537 (GRCm39) |
I681V |
probably benign |
Het |
Arfgap3 |
T |
C |
15: 83,197,758 (GRCm39) |
T333A |
probably benign |
Het |
Cdc42ep4 |
A |
G |
11: 113,619,830 (GRCm39) |
V187A |
probably benign |
Het |
Cyp4f40 |
G |
A |
17: 32,878,535 (GRCm39) |
G26R |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,163,497 (GRCm39) |
|
probably benign |
Het |
Dnajb4 |
T |
C |
3: 151,892,176 (GRCm39) |
E219G |
probably damaging |
Het |
Dnmt3b |
A |
G |
2: 153,518,631 (GRCm39) |
K578R |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,329,570 (GRCm39) |
D4649V |
probably damaging |
Het |
Fam20c |
T |
C |
5: 138,792,075 (GRCm39) |
S391P |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,767,582 (GRCm39) |
Y801F |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,429,725 (GRCm39) |
E2775A |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,272,741 (GRCm39) |
S830T |
possibly damaging |
Het |
Gatad2a |
T |
G |
8: 70,362,598 (GRCm39) |
S581R |
possibly damaging |
Het |
Gpcpd1 |
C |
T |
2: 132,381,818 (GRCm39) |
|
probably null |
Het |
Igsf10 |
A |
G |
3: 59,226,158 (GRCm39) |
L2505P |
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,239,902 (GRCm39) |
D649G |
possibly damaging |
Het |
Impact |
T |
C |
18: 13,107,815 (GRCm39) |
C28R |
probably benign |
Het |
Ino80d |
G |
T |
1: 63,097,306 (GRCm39) |
Q863K |
probably damaging |
Het |
Iqsec1 |
A |
C |
6: 90,653,762 (GRCm39) |
M675R |
probably damaging |
Het |
Kcng3 |
C |
T |
17: 83,895,279 (GRCm39) |
V396I |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,279,814 (GRCm39) |
D60E |
probably benign |
Het |
Krtap7-1 |
C |
T |
16: 89,305,156 (GRCm39) |
|
probably benign |
Het |
Mal2 |
T |
A |
15: 54,461,941 (GRCm39) |
Y145* |
probably null |
Het |
Mcpt8 |
A |
T |
14: 56,319,864 (GRCm39) |
|
probably null |
Het |
Mdn1 |
A |
G |
4: 32,758,393 (GRCm39) |
D4810G |
probably benign |
Het |
Med24 |
T |
C |
11: 98,598,368 (GRCm39) |
I766V |
probably benign |
Het |
Mga |
G |
A |
2: 119,769,138 (GRCm39) |
V1477M |
probably damaging |
Het |
Mybph |
T |
A |
1: 134,121,663 (GRCm39) |
V112E |
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,931,337 (GRCm39) |
S125T |
probably damaging |
Het |
Or2w3 |
T |
C |
11: 58,556,691 (GRCm39) |
V102A |
probably benign |
Het |
Or6c212 |
A |
G |
10: 129,558,756 (GRCm39) |
I219T |
probably damaging |
Het |
Or8b44 |
A |
T |
9: 38,410,003 (GRCm39) |
I13F |
probably damaging |
Het |
Otop3 |
A |
G |
11: 115,231,795 (GRCm39) |
N220S |
probably damaging |
Het |
Pacsin1 |
T |
G |
17: 27,923,809 (GRCm39) |
|
probably null |
Het |
Pcsk1 |
A |
G |
13: 75,241,286 (GRCm39) |
R89G |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,153,947 (GRCm39) |
E509V |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,677,588 (GRCm39) |
|
probably benign |
Het |
Ppp4r4 |
T |
G |
12: 103,547,753 (GRCm39) |
|
probably benign |
Het |
Pygb |
T |
A |
2: 150,655,403 (GRCm39) |
N251K |
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,310,782 (GRCm39) |
T504I |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,869,163 (GRCm39) |
T584S |
probably benign |
Het |
Smad2 |
G |
A |
18: 76,395,555 (GRCm39) |
|
probably benign |
Het |
Srsf6 |
G |
A |
2: 162,775,674 (GRCm39) |
R161H |
probably damaging |
Het |
Tbx3 |
T |
A |
5: 119,820,708 (GRCm39) |
S573T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,619,244 (GRCm39) |
|
probably null |
Het |
Ubr2 |
T |
C |
17: 47,284,893 (GRCm39) |
M542V |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,647,659 (GRCm39) |
|
probably benign |
Het |
Vmn1r222 |
T |
A |
13: 23,416,315 (GRCm39) |
K299N |
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,662,115 (GRCm39) |
|
probably benign |
Het |
Zbtb46 |
T |
A |
2: 181,065,928 (GRCm39) |
H74L |
possibly damaging |
Het |
Zfp106 |
A |
T |
2: 120,354,524 (GRCm39) |
L1416I |
probably damaging |
Het |
Zfp106 |
A |
G |
2: 120,369,803 (GRCm39) |
L73S |
probably benign |
Het |
Zfp667 |
G |
A |
7: 6,308,336 (GRCm39) |
G335R |
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 |
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 |
|
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 |
2014-05-07 |