Incidental Mutation 'R0441:Tecpr1'
ID 39159
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 038642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0441 (G1)
Quality Score 213
Status Validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 144132759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1159 (R1159L)
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 benign
Transcript: ENSMUST00000085701
AA Change: R1159L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: R1159L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,689 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,545,345 (GRCm39) R5647* probably null Het
Agbl2 C T 2: 90,627,827 (GRCm39) R211* probably null Het
Akap9 A G 5: 4,011,714 (GRCm39) K806E probably benign Het
Ampd1 C G 3: 102,995,794 (GRCm39) L235V probably benign Het
Atcay T C 10: 81,060,294 (GRCm39) D14G possibly damaging Het
Atp8b4 C T 2: 126,220,626 (GRCm39) probably benign Het
Bmp8b T C 4: 123,018,308 (GRCm39) V393A probably damaging Het
Brca2 T A 5: 150,465,322 (GRCm39) D1695E probably damaging Het
Cdh15 A G 8: 123,587,705 (GRCm39) I210V probably damaging Het
Cep250 T C 2: 155,813,924 (GRCm39) L564P possibly damaging Het
Cmpk1 T C 4: 114,822,220 (GRCm39) T110A probably benign Het
Cpsf3 T G 12: 21,350,085 (GRCm39) I268S probably damaging Het
Csmd2 C T 4: 128,414,023 (GRCm39) A2621V probably benign Het
Cyp2c40 T C 19: 39,795,607 (GRCm39) probably benign Het
D430041D05Rik T A 2: 103,998,292 (GRCm39) Y1837F probably damaging Het
Degs2 A G 12: 108,668,469 (GRCm39) F10S probably damaging Het
Dytn T A 1: 63,717,933 (GRCm39) probably benign Het
Elfn2 G C 15: 78,557,795 (GRCm39) P251A probably benign Het
Epg5 T C 18: 78,066,486 (GRCm39) probably benign Het
Evc2 A G 5: 37,574,811 (GRCm39) D1022G probably damaging Het
Fat3 A G 9: 15,856,304 (GRCm39) probably benign Het
Fbn1 A T 2: 125,151,675 (GRCm39) probably null Het
Gm15217 T C 14: 46,620,676 (GRCm39) probably null Het
Gm17611 A T 13: 50,130,435 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,146,303 (GRCm39) W182* probably null Het
Gsc T C 12: 104,439,353 (GRCm39) I8V probably damaging Het
Hck A G 2: 152,976,052 (GRCm39) K197R probably benign Het
Kat6b T C 14: 21,720,301 (GRCm39) L1551P probably damaging Het
Lrch1 C T 14: 75,184,985 (GRCm39) G39D possibly damaging Het
Macf1 T C 4: 123,259,148 (GRCm39) probably null Het
Mroh9 A T 1: 162,888,331 (GRCm39) V248E probably damaging Het
Mrps15 C A 4: 125,945,210 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufa5 T C 6: 24,522,750 (GRCm39) T31A probably benign Het
Nfyb A G 10: 82,586,594 (GRCm39) V190A possibly damaging Het
Nos2 A G 11: 78,819,409 (GRCm39) I40M probably benign Het
Or2f2 T C 6: 42,767,108 (GRCm39) I45T probably damaging Het
Or5ar1 A T 2: 85,671,859 (GRCm39) I92N probably damaging Het
Or8k37 A T 2: 86,469,674 (GRCm39) I126K probably damaging Het
Otog T C 7: 45,955,301 (GRCm39) S564P probably damaging Het
Pak5 C T 2: 135,958,549 (GRCm39) A180T probably benign Het
Pappa2 T C 1: 158,590,628 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxnc1 T A 10: 94,632,344 (GRCm39) N1431I probably damaging Het
Prph A T 15: 98,955,319 (GRCm39) I429L probably damaging Het
Prrc2a A G 17: 35,368,664 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,064,859 (GRCm39) N30Y probably damaging Het
Rad54b A T 4: 11,563,394 (GRCm39) T18S probably benign Het
Ranbp2 A G 10: 58,321,590 (GRCm39) E2629G probably benign Het
Rec114 G A 9: 58,565,053 (GRCm39) T201I probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec23b A G 2: 144,423,917 (GRCm39) E522G probably damaging Het
Sgsm3 G A 15: 80,893,971 (GRCm39) R502H possibly damaging Het
Sh3pxd2b C A 11: 32,373,023 (GRCm39) A730D possibly damaging Het
Spag4 A G 2: 155,909,899 (GRCm39) D187G probably damaging Het
Srgap2 G A 1: 131,264,175 (GRCm39) T465I probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
Tmem63b A T 17: 45,977,241 (GRCm39) probably null Het
Tmtc1 T A 6: 148,317,256 (GRCm39) D78V probably damaging Het
Tpp2 A G 1: 44,029,722 (GRCm39) N68D possibly damaging Het
Ttn C A 2: 76,770,269 (GRCm39) A2641S probably benign Het
Uimc1 T C 13: 55,241,032 (GRCm39) K19E probably damaging Het
Utrn T A 10: 12,564,038 (GRCm39) E1274V probably null Het
Vmn2r102 A T 17: 19,914,630 (GRCm39) I732F probably damaging Het
Wrn A T 8: 33,758,778 (GRCm39) M792K probably benign Het
Zfp451 A G 1: 33,816,126 (GRCm39) I608T probably 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
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
Predicted Primers PCR Primer
(F):5'- AATGGCTGACTCTGACCTGACTCC -3'
(R):5'- GCTGCCCCAACAAAAGTCTGTTC -3'

Sequencing Primer
(F):5'- CTGACCTGACTCCTTGGGTG -3'
(R):5'- CAGTGGAAATCTGGGACTCTTC -3'
Posted On 2013-05-23