Incidental Mutation 'R2130:Tecpr1'
ID 227940
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 040133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2130 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144145463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 595 (T595S)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably benign
Transcript: ENSMUST00000085701
AA Change: T595S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: T595S

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: 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
Meta Mutation Damage Score 0.0601 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 94% (94/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,223 (GRCm39) N178I probably damaging Het
Aadacl2fm3 T C 3: 59,772,769 (GRCm39) V91A probably damaging Het
Adgrl2 T C 3: 148,596,124 (GRCm39) I71V probably damaging Het
Adgrv1 T C 13: 81,729,846 (GRCm39) T212A possibly damaging Het
Aopep T A 13: 63,357,963 (GRCm39) C656S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apaf1 A T 10: 90,896,027 (GRCm39) Y348* probably null Het
Apobr A G 7: 126,186,378 (GRCm39) T630A probably benign Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asic1 A T 15: 99,569,756 (GRCm39) T26S possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atrnl1 G A 19: 57,643,426 (GRCm39) G438D probably damaging Het
Bbc3 T C 7: 16,046,268 (GRCm39) V68A possibly damaging Het
Birc6 T C 17: 74,966,149 (GRCm39) probably benign Het
Btnl9 A G 11: 49,071,523 (GRCm39) F100S probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccpg1 A G 9: 72,920,440 (GRCm39) N685S probably damaging Het
Ces3b T A 8: 105,819,607 (GRCm39) probably null Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clhc1 A G 11: 29,507,663 (GRCm39) I126V probably benign Het
Crocc T C 4: 140,756,413 (GRCm39) I1071V probably benign Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Dnajc8 T C 4: 132,271,370 (GRCm39) S62P possibly damaging Het
Dpyd T C 3: 118,468,217 (GRCm39) V77A probably benign Het
Dram2 T A 3: 106,478,076 (GRCm39) M136K possibly damaging Het
Dtx2 T A 5: 136,040,894 (GRCm39) F100I probably damaging Het
Dync2h1 A T 9: 7,011,253 (GRCm39) W3654R probably damaging Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm6578 C A 6: 12,100,186 (GRCm39) noncoding transcript Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Gm9797 G T 10: 11,485,113 (GRCm39) noncoding transcript Het
Golga3 T C 5: 110,350,805 (GRCm39) probably null Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Isoc2b A T 7: 4,854,438 (GRCm39) I31N probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lamc2 T A 1: 153,002,870 (GRCm39) D1037V probably damaging Het
Lhfpl2 A G 13: 94,328,557 (GRCm39) D206G possibly damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Mgat2 T C 12: 69,232,068 (GRCm39) F214S probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Niban2 A G 2: 32,813,659 (GRCm39) K624R probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or56a5 T A 7: 104,792,757 (GRCm39) I254F probably benign Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Psph T A 5: 129,864,603 (GRCm39) probably null Het
Ptpro A G 6: 137,388,114 (GRCm39) probably null Het
Pzp T C 6: 128,468,124 (GRCm39) probably null Het
Qrich2 C T 11: 116,339,243 (GRCm39) probably benign Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf17 T C 14: 56,730,811 (GRCm39) V1205A probably damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Sgo2b T C 8: 64,380,181 (GRCm39) R884G probably benign Het
Slc10a5 G T 3: 10,400,278 (GRCm39) D127E probably benign Het
Slc25a35 T G 11: 68,859,791 (GRCm39) S101R possibly damaging Het
Slc6a13 T C 6: 121,302,000 (GRCm39) L194P possibly damaging Het
Snw1 T G 12: 87,499,473 (GRCm39) probably benign Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Srsf12 C T 4: 33,225,764 (GRCm39) probably benign Het
Ssxa1 T A X: 20,985,581 (GRCm39) probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tacr3 T C 3: 134,637,941 (GRCm39) V366A probably benign Het
Tasor T A 14: 27,168,345 (GRCm39) Y296N probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tkfc A G 19: 10,573,405 (GRCm39) I279T probably damaging Het
Tmem98 A G 11: 80,708,348 (GRCm39) E106G probably damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn T C 2: 76,572,861 (GRCm39) T24265A possibly damaging Het
Usp37 A G 1: 74,500,815 (GRCm39) V582A probably damaging Het
Vps13b T A 15: 35,671,546 (GRCm39) I1683N probably benign Het
Vps13d C T 4: 144,882,671 (GRCm39) R968H probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Vwf C T 6: 125,634,020 (GRCm39) T166I probably damaging Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp459 A T 13: 67,556,395 (GRCm39) H229Q probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zmynd19 T A 2: 24,842,648 (GRCm39) Y15* probably null 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
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
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'- CTTGATTCTTTAACCTTGGGACTG -3'
(R):5'- TCAAGGTGACTGTCAGACGG -3'

Sequencing Primer
(F):5'- AGCTGAAATGCTGAGTGCCC -3'
(R):5'- TGACTGTCAGACGGGCCATC -3'
Posted On 2014-09-17