Incidental Mutation 'R0586:Tecpr1'
ID 55751
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 038776-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0586 (G1)
Quality Score 199
Status Validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144154219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 78 (N78S)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably damaging
Transcript: ENSMUST00000085701
AA Change: N78S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: N78S

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.2327 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.4%
Validation Efficiency 100% (74/74)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,092,860 (GRCm39) V308E probably benign Het
Amy1 A G 3: 113,356,418 (GRCm39) probably benign Het
Astn2 C T 4: 66,103,379 (GRCm39) V345M unknown Het
Brwd1 T C 16: 95,844,286 (GRCm39) E756G probably damaging Het
Ccpg1 C T 9: 72,909,103 (GRCm39) L135F probably benign Het
Cecr2 C T 6: 120,734,845 (GRCm39) H694Y probably damaging Het
Cfh G A 1: 140,110,920 (GRCm39) T14I probably damaging Het
Cfhr2 G A 1: 139,741,172 (GRCm39) R268* probably null Het
Clca3a1 T A 3: 144,738,350 (GRCm39) I53L probably benign Het
Clcn6 A G 4: 148,123,206 (GRCm39) probably benign Het
Cnfn C T 7: 25,067,256 (GRCm39) V98I probably benign Het
Cntnap1 C T 11: 101,077,840 (GRCm39) R1122W probably damaging Het
Cpne9 A T 6: 113,272,024 (GRCm39) E384V probably damaging Het
Ctr9 T C 7: 110,648,705 (GRCm39) probably benign Het
Ctsj T A 13: 61,151,515 (GRCm39) probably benign Het
Cyp2c39 A C 19: 39,501,934 (GRCm39) probably benign Het
Dock5 A C 14: 68,046,481 (GRCm39) I767S probably damaging Het
Eftud2 T C 11: 102,737,446 (GRCm39) T552A probably damaging Het
Epdr1 A G 13: 19,778,715 (GRCm39) I25T probably damaging Het
Fcgbp A T 7: 27,789,138 (GRCm39) D568V probably damaging Het
Fcgbpl1 T A 7: 27,836,516 (GRCm39) V145D probably damaging Het
Fhip1b T C 7: 105,038,654 (GRCm39) E195G probably damaging Het
Frem2 T A 3: 53,555,342 (GRCm39) T1732S probably damaging Het
Fuz T C 7: 44,547,982 (GRCm39) V183A possibly damaging Het
Grb7 T C 11: 98,344,046 (GRCm39) S284P probably damaging Het
Hoxb4 G T 11: 96,209,713 (GRCm39) G40C probably damaging Het
Kcnn1 T C 8: 71,316,513 (GRCm39) probably benign Het
Kmt2d C A 15: 98,733,088 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,203,732 (GRCm39) V366A unknown Het
Ldlr G A 9: 21,651,040 (GRCm39) R486H probably benign Het
Lnpep A T 17: 17,795,658 (GRCm39) probably benign Het
Mical3 A T 6: 121,006,602 (GRCm39) probably benign Het
Myh15 T C 16: 48,992,250 (GRCm39) probably benign Het
Nup155 T A 15: 8,159,716 (GRCm39) H542Q probably benign Het
Opn4 A G 14: 34,320,930 (GRCm39) probably benign Het
Or13a20 T C 7: 140,231,976 (GRCm39) F28S probably benign Het
Or4a68 T A 2: 89,269,698 (GRCm39) R308S possibly damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Or8g4 A T 9: 39,662,414 (GRCm39) H244L probably damaging Het
Or8h10 T C 2: 86,809,126 (GRCm39) N5D probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Parp14 T C 16: 35,661,382 (GRCm39) K1522R probably benign Het
Pkhd1 A T 1: 20,594,335 (GRCm39) D1259E probably benign Het
Pogz C T 3: 94,786,664 (GRCm39) A1084V probably damaging Het
Popdc3 G A 10: 45,191,359 (GRCm39) V157M probably benign Het
Prrt4 T C 6: 29,171,183 (GRCm39) Y423C probably damaging Het
Qrich1 C T 9: 108,411,719 (GRCm39) H415Y probably damaging Het
Rabgap1 A G 2: 37,433,235 (GRCm39) N801D probably benign Het
Rb1 A G 14: 73,525,124 (GRCm39) probably benign Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Ryr2 T C 13: 11,650,445 (GRCm39) D356G probably null Het
Skint8 C G 4: 111,794,126 (GRCm39) P172R probably damaging Het
Slc12a8 T G 16: 33,478,600 (GRCm39) M643R possibly damaging Het
Sult1c2 A T 17: 54,271,113 (GRCm39) probably benign Het
Tasor2 A G 13: 3,640,321 (GRCm39) L272P probably damaging Het
Tcaf1 T A 6: 42,650,473 (GRCm39) M869L probably damaging Het
Tectb A T 19: 55,170,356 (GRCm39) Y69F probably damaging Het
Them4 A T 3: 94,237,101 (GRCm39) N187I possibly damaging Het
Tm9sf3 A G 19: 41,244,582 (GRCm39) probably null Het
Tnik G T 3: 28,631,510 (GRCm39) probably benign Het
Tns2 G T 15: 102,018,020 (GRCm39) probably benign Het
Tnxb A G 17: 34,891,118 (GRCm39) D487G probably damaging Het
Trim33 T A 3: 103,217,660 (GRCm39) C202S probably damaging Het
Trpm2 T A 10: 77,759,350 (GRCm39) I1145F probably damaging Het
Trpv2 A G 11: 62,483,596 (GRCm39) T478A probably benign Het
Ube2e3 T C 2: 78,750,334 (GRCm39) Y187H probably benign Het
Ubxn11 A G 4: 133,836,963 (GRCm39) R64G possibly damaging Het
Wwtr1 T C 3: 57,366,487 (GRCm39) T407A probably damaging Het
Zfyve26 A T 12: 79,315,502 (GRCm39) S1325T possibly damaging Het
Other mutations in Tecpr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AAGTCCATAGCGTATGTCCACCCC -3'
(R):5'- ACCTATCTGTGTCCTCTAAGCACCG -3'

Sequencing Primer
(F):5'- ATGGTATTCAATCCCGGAGC -3'
(R):5'- TGTGGCTTTTCCTGGAGACTATC -3'
Posted On 2013-07-11