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 2210010N04Rik
MMRRC Submission 044368-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6251 (G1)
Quality Score 205.009
Status Not validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 144135394 bp (GRCm39)
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

DomainStartEndE-ValueType
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,445 (GRCm39) S36P probably damaging Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Arhgap26 A T 18: 39,490,880 (GRCm39) S328C probably null Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Asb3 G A 11: 31,005,559 (GRCm39) A192T probably damaging Het
Atp10b A T 11: 43,126,573 (GRCm39) M1110L possibly damaging Het
Cacna1i T C 15: 80,220,883 (GRCm39) I175T probably damaging Het
Car15 A T 16: 17,655,227 (GRCm39) I71N probably benign Het
Casq1 T A 1: 172,044,407 (GRCm39) Y140F probably benign Het
Ccdc93 C T 1: 121,362,269 (GRCm39) T17M possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Ciart G A 3: 95,788,323 (GRCm39) probably benign Het
Cul5 A T 9: 53,558,094 (GRCm39) V170D probably benign Het
Cyb5r3 T C 15: 83,038,917 (GRCm39) D224G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Daglb T A 5: 143,475,689 (GRCm39) L383Q probably damaging Het
Dazap2 T G 15: 100,514,864 (GRCm39) H28Q possibly damaging Het
Dnttip2 A T 3: 122,068,905 (GRCm39) D40V probably benign Het
Dynlt2b T A 16: 32,245,727 (GRCm39) D125E possibly damaging Het
Epn1 G T 7: 5,098,925 (GRCm39) D406Y probably damaging Het
Epn1 G T 7: 5,098,935 (GRCm39) R409L probably damaging Het
Evc T C 5: 37,457,843 (GRCm39) T966A probably benign Het
Extl3 T C 14: 65,314,375 (GRCm39) D269G probably damaging Het
Gfra3 TGCGC TGC 18: 34,828,864 (GRCm39) probably null Het
Gpr87 A T 3: 59,086,528 (GRCm39) F326I probably damaging Het
Hivep3 C A 4: 119,952,137 (GRCm39) P151H probably damaging Het
Kcnj14 T A 7: 45,467,440 (GRCm39) E302V probably damaging Het
Kdm5d T C Y: 921,693 (GRCm39) Y534H probably damaging Homo
Map3k5 T A 10: 20,014,006 (GRCm39) probably null Het
Mdn1 A G 4: 32,748,590 (GRCm39) T4212A probably benign Het
Ms4a6d A T 19: 11,564,504 (GRCm39) S122R probably damaging Het
Mtarc1 G A 1: 184,527,648 (GRCm39) R271W probably damaging Het
Nectin3 A T 16: 46,215,513 (GRCm39) H76Q probably damaging Het
Notch1 C A 2: 26,364,182 (GRCm39) E846D possibly damaging Het
Or1e23 A G 11: 73,407,534 (GRCm39) S164P probably benign Het
Or4a67 T C 2: 88,598,632 (GRCm39) E9G probably damaging Het
Or8b36 GTTT GTTTGCTTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TT TTGCTGTGT 9: 37,937,844 (GRCm39) probably null Het
Or8b36 G GGGATTGC 9: 37,937,833 (GRCm39) probably null Het
Or8b36 TGTTT TGTTTGCAGTTT 9: 37,937,841 (GRCm39) probably null Het
Or8g18 T A 9: 39,149,514 (GRCm39) I72F possibly damaging Het
Pfkl C T 10: 77,825,399 (GRCm39) probably null Het
Pigz T C 16: 31,764,424 (GRCm39) V494A possibly damaging Het
Pik3r4 T C 9: 105,531,247 (GRCm39) V516A probably benign Het
Polr2b G A 5: 77,496,141 (GRCm39) R1104K probably benign Het
Rap1a A T 3: 105,639,311 (GRCm39) L116* probably null Het
Rnf114 T C 2: 167,356,649 (GRCm39) *230R probably null Het
Rtl1 G T 12: 109,560,083 (GRCm39) N585K probably benign Het
Serpinb5 G T 1: 106,802,795 (GRCm39) R110I possibly damaging Het
Spink6 T C 18: 44,207,498 (GRCm39) probably null Het
Spopfm1 G T 3: 94,173,208 (GRCm39) S72I probably damaging Het
Stk39 A T 2: 68,137,383 (GRCm39) probably null Het
Tcstv2a T C 13: 120,724,907 (GRCm39) probably benign Het
Tcte1 A T 17: 45,846,085 (GRCm39) T230S probably benign Het
Tmc7 T C 7: 118,160,261 (GRCm39) Y192C possibly damaging Het
Trim63 A T 4: 134,050,537 (GRCm39) T274S probably benign Het
Wdr43 G A 17: 71,957,048 (GRCm39) probably null Het
Zfr T C 15: 12,160,677 (GRCm39) I750T 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
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
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'- ATCCTGGCAAAGAACAGAGC -3'
(R):5'- TTTGAGTCTCAGCCTCAGAGG -3'

Sequencing Primer
(F):5'- ATGTCCCAGGCTGTTGC -3'
(R):5'- TCTCAGCCTCAGAGGAGAGAG -3'
Posted On 2018-03-15