Incidental Mutation 'R6000:Tecpr1'
ID 480775
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 044179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6000 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144148239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 389 (S389P)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably benign
Transcript: ENSMUST00000085701
AA Change: S389P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: S389P

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 0.0635 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T C 16: 88,556,427 (GRCm39) C214R possibly damaging Het
Ahnak A T 19: 8,990,475 (GRCm39) K3920* probably null Het
Alox12b A G 11: 69,060,394 (GRCm39) D650G probably damaging Het
Amt A T 9: 108,178,684 (GRCm39) Y400F probably benign Het
Ankrd11 A G 8: 123,617,934 (GRCm39) S1973P possibly damaging Het
Aoc1 A T 6: 48,884,573 (GRCm39) T539S probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Ccdc15 C T 9: 37,227,060 (GRCm39) G292S probably benign Het
Ccdc162 C T 10: 41,437,159 (GRCm39) C287Y possibly damaging Het
Ccn6 T C 10: 39,034,296 (GRCm39) Y102C probably damaging Het
Cdk15 G A 1: 59,328,818 (GRCm39) G244D probably damaging Het
Cep290 T A 10: 100,377,649 (GRCm39) Y1560N probably damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Cic A C 7: 24,971,423 (GRCm39) I385L probably benign Het
Cobl A T 11: 12,319,684 (GRCm39) F231L probably benign Het
Cpeb1 T C 7: 81,011,428 (GRCm39) D171G possibly damaging Het
Csnk1g2 T A 10: 80,474,778 (GRCm39) V305E probably damaging Het
Cyp2c29 A G 19: 39,296,050 (GRCm39) probably null Het
Dner A T 1: 84,361,650 (GRCm39) M653K possibly damaging Het
Dst T A 1: 34,251,304 (GRCm39) M4311K possibly damaging Het
Ep400 A G 5: 110,831,067 (GRCm39) S2200P unknown Het
Ephb2 A T 4: 136,411,341 (GRCm39) S440T possibly damaging Het
Ercc1 A T 7: 19,081,086 (GRCm39) probably benign Het
Folh1 T A 7: 86,375,142 (GRCm39) N615Y probably benign Het
Gm7298 T C 6: 121,742,038 (GRCm39) Y487H possibly damaging Het
Gucy1b2 A T 14: 62,656,499 (GRCm39) I286N probably benign Het
Hr A G 14: 70,805,273 (GRCm39) D1005G probably damaging Het
Ifrd1 C A 12: 40,266,243 (GRCm39) V117F possibly damaging Het
Ift140 A T 17: 25,255,934 (GRCm39) T210S probably benign Het
Igll1 C A 16: 16,681,805 (GRCm39) probably benign Het
Ino80 G T 2: 119,204,989 (GRCm39) S1512R probably benign Het
Intu A T 3: 40,608,578 (GRCm39) K197* probably null Het
Kdm6b A G 11: 69,294,424 (GRCm39) L1216P unknown Het
Klrb1c T G 6: 128,761,120 (GRCm39) D169A probably damaging Het
Lamp3 T A 16: 19,519,698 (GRCm39) T162S possibly damaging Het
Mapk10 G A 5: 103,114,342 (GRCm39) P319S probably damaging Het
Mapk10 G A 5: 103,114,341 (GRCm39) P319L probably damaging Het
Mical3 T C 6: 120,998,281 (GRCm39) T702A probably benign Het
Mstn C T 1: 53,100,828 (GRCm39) probably benign Het
Nckap1l T C 15: 103,387,242 (GRCm39) S706P probably benign Het
Nckap5l G A 15: 99,324,766 (GRCm39) T579I probably damaging Het
Or13p3 A T 4: 118,567,441 (GRCm39) N279I probably damaging Het
Or4a27 C A 2: 88,559,575 (GRCm39) A123S probably damaging Het
Or8s16 G A 15: 98,211,317 (GRCm39) T38I probably benign Het
Pcdh18 A C 3: 49,708,913 (GRCm39) S801A probably damaging Het
Pde11a A T 2: 75,848,204 (GRCm39) D874E probably damaging Het
Pfdn6 G T 17: 34,158,589 (GRCm39) P62T probably damaging Het
Pkd1l1 A G 11: 8,900,427 (GRCm39) I38T probably benign Het
Prkdc A T 16: 15,647,561 (GRCm39) I3662F possibly damaging Het
Psg26 A T 7: 18,216,617 (GRCm39) L74* probably null Het
Rassf6 A G 5: 90,751,736 (GRCm39) V341A probably damaging Het
Rsad2 C A 12: 26,497,150 (GRCm39) probably null Het
Rwdd3 A G 3: 120,950,162 (GRCm39) Y95H probably damaging Het
Scfd1 A G 12: 51,492,457 (GRCm39) I589V possibly damaging Het
Sgsm1 A T 5: 113,434,704 (GRCm39) I131N probably damaging Het
Tle3 T A 9: 61,281,296 (GRCm39) I29N probably damaging Het
Tmem63c C A 12: 87,103,971 (GRCm39) N73K probably damaging Het
Tpm2 T A 4: 43,518,301 (GRCm39) probably null Het
Trak2 A T 1: 58,950,971 (GRCm39) D405E possibly damaging Het
Ttn C A 2: 76,575,516 (GRCm39) A23380S probably damaging Het
Ttn A T 2: 76,715,495 (GRCm39) probably benign Het
Tub T C 7: 108,628,857 (GRCm39) S391P probably damaging Het
Ush2a G T 1: 187,999,223 (GRCm39) E178* probably null Het
Vamp9 G T 5: 100,089,226 (GRCm39) A164S probably benign Het
Ylpm1 C A 12: 85,044,030 (GRCm39) T256K unknown Het
Zfp1007 A G 5: 109,824,730 (GRCm39) V240A probably benign 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
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
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'- TCGACGGAGGTAATAATGTCTG -3'
(R):5'- TAGGAGTCCAACTATGTGCCC -3'

Sequencing Primer
(F):5'- ATAATGTCTGTAGACCGCCTAGC -3'
(R):5'- AGTCCAACTATGTGCCCAGCTG -3'
Posted On 2017-06-26