Incidental Mutation 'R4684:Tecpr1'
ID 353508
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144194442-144223615 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144207437 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 649 (D649G)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably benign
Transcript: ENSMUST00000085701
AA Change: D649G

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: D649G

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: ENSMUST00000147992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156129
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 (GRCm38) V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 (GRCm38) I629T unknown Het
4933402N03Rik T C 7: 131,138,684 (GRCm38) R268G probably damaging Het
Abca13 A T 11: 9,434,193 (GRCm38) R3882* probably null Het
Adamts3 T G 5: 89,703,007 (GRCm38) T558P probably damaging Het
Ano2 A G 6: 125,790,341 (GRCm38) N214S probably benign Het
Arhgef4 A T 1: 34,811,785 (GRCm38) probably null Het
Boc C T 16: 44,500,380 (GRCm38) A306T probably benign Het
Capn10 T C 1: 92,943,781 (GRCm38) F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 (GRCm38) probably benign Het
Cobll1 G T 2: 65,099,028 (GRCm38) S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 (GRCm38) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 (GRCm38) V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 (GRCm38) Y118N probably damaging Het
Dgki A T 6: 37,299,846 (GRCm38) probably benign Het
Disp2 A G 2: 118,792,756 (GRCm38) N1323S probably damaging Het
Dock1 T A 7: 134,724,409 (GRCm38) Y42* probably null Het
Eps8l1 C A 7: 4,473,945 (GRCm38) P471Q probably damaging Het
Fam20a A C 11: 109,721,687 (GRCm38) L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 (GRCm38) I151K probably damaging Het
Gga1 C A 15: 78,885,309 (GRCm38) P161T probably damaging Het
Gm8909 A T 17: 36,165,858 (GRCm38) H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 (GRCm38) Y52* probably null Het
Gucy2g A G 19: 55,206,256 (GRCm38) F910L probably damaging Het
Helz T C 11: 107,649,145 (GRCm38) V315A probably damaging Het
Hk2 T C 6: 82,739,648 (GRCm38) Y301C probably damaging Het
Htt C T 5: 34,852,765 (GRCm38) P1521S probably damaging Het
Iah1 T C 12: 21,316,433 (GRCm38) M1T probably null Het
Ik T C 18: 36,752,414 (GRCm38) S287P probably damaging Het
Itga1 T A 13: 115,049,370 (GRCm38) D32V probably damaging Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Klk14 A G 7: 43,691,968 (GRCm38) I15V probably benign Het
Kng2 T C 16: 22,987,641 (GRCm38) I603V possibly damaging Het
Lama1 T C 17: 67,773,778 (GRCm38) I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 (GRCm38) L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 (GRCm38) K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 (GRCm38) N233K probably benign Het
Mapk13 T C 17: 28,770,049 (GRCm38) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm38) F123L probably damaging Het
Mettl7b G T 10: 128,960,702 (GRCm38) C79* probably null Het
Myh4 G C 11: 67,245,811 (GRCm38) D472H probably damaging Het
Nipa2 A T 7: 55,935,826 (GRCm38) N121K probably benign Het
Nostrin C T 2: 69,183,924 (GRCm38) T408M probably benign Het
Olfr347 A G 2: 36,734,674 (GRCm38) M118V probably damaging Het
Olfr725 T C 14: 50,034,830 (GRCm38) D191G probably damaging Het
Oosp2 C T 19: 11,649,653 (GRCm38) R102H probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm38) I202L probably benign Het
Pbld2 C A 10: 63,057,697 (GRCm38) R271S probably damaging Het
Pex6 C T 17: 46,712,101 (GRCm38) T201I probably benign Het
Pilra T C 5: 137,835,515 (GRCm38) I96M probably damaging Het
Pllp T A 8: 94,677,278 (GRCm38) D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 (GRCm38) S765G probably benign Het
Prkca A T 11: 107,961,608 (GRCm38) Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 (GRCm38) K35* probably null Het
Psmc2 A G 5: 21,803,265 (GRCm38) D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 (GRCm38) T2387A probably damaging Het
Ros1 T C 10: 52,129,096 (GRCm38) N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 (GRCm38) T367K probably benign Het
Scube2 C T 7: 109,810,713 (GRCm38) R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 (GRCm38) probably null Het
Secisbp2l T C 2: 125,745,942 (GRCm38) D751G probably damaging Het
Setd3 T C 12: 108,108,690 (GRCm38) D402G probably benign Het
Slc15a2 T A 16: 36,757,849 (GRCm38) K359N probably damaging Het
Slc25a21 A G 12: 57,196,936 (GRCm38) S2P probably benign Het
Slfn8 A T 11: 83,017,506 (GRCm38) H70Q probably benign Het
Spef2 T C 15: 9,647,490 (GRCm38) I944V probably benign Het
Spg11 A G 2: 122,065,076 (GRCm38) F1887S probably damaging Het
Sptbn4 T C 7: 27,364,419 (GRCm38) E879G probably damaging Het
Sptbn4 A T 7: 27,366,735 (GRCm38) D649E possibly damaging Het
Stx5a C A 19: 8,743,361 (GRCm38) R121S probably damaging Het
Tbcd T C 11: 121,493,771 (GRCm38) L26P probably damaging Het
Tfam A G 10: 71,237,847 (GRCm38) S32P probably benign Het
Trmt44 C T 5: 35,558,043 (GRCm38) R642H probably benign Het
Trpm3 G A 19: 22,987,781 (GRCm38) A1547T probably benign Het
Ttll6 T C 11: 96,153,177 (GRCm38) V519A probably benign Het
Umodl1 T C 17: 30,998,114 (GRCm38) F1107L probably benign Het
Usp5 A T 6: 124,817,956 (GRCm38) V677E probably damaging Het
Utp20 A T 10: 88,807,445 (GRCm38) L605* probably null Het
Utrn T C 10: 12,745,240 (GRCm38) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm38) L178* probably null Het
Vmn2r88 A T 14: 51,413,334 (GRCm38) D168V possibly damaging Het
Vps13b C T 15: 35,841,341 (GRCm38) H2506Y probably benign Het
Vps13b C A 15: 35,879,821 (GRCm38) T3014K probably benign Het
Vps13b T C 15: 35,646,178 (GRCm38) V1476A probably damaging Het
Vps37c T C 19: 10,712,768 (GRCm38) V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 (GRCm38) Y1621H probably benign Het
Zfp251 T C 15: 76,854,407 (GRCm38) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm38) T1994A probably benign Het
Zfp791 A G 8: 85,110,930 (GRCm38) Y102H probably benign Het
Other mutations in Tecpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Tecpr1 APN 5 144,208,593 (GRCm38) critical splice donor site probably null
IGL01774:Tecpr1 APN 5 144,211,540 (GRCm38) missense probably damaging 0.97
IGL01960:Tecpr1 APN 5 144,216,919 (GRCm38) missense probably benign 0.00
IGL01973:Tecpr1 APN 5 144,197,988 (GRCm38) splice site probably benign
IGL02244:Tecpr1 APN 5 144,210,003 (GRCm38) missense probably benign
IGL02247:Tecpr1 APN 5 144,206,554 (GRCm38) missense possibly damaging 0.64
IGL02423:Tecpr1 APN 5 144,203,487 (GRCm38) missense possibly damaging 0.88
IGL02679:Tecpr1 APN 5 144,206,546 (GRCm38) missense probably benign 0.28
larghissimo UTSW 5 144,217,257 (GRCm38) missense probably damaging 1.00
PIT4531001:Tecpr1 UTSW 5 144,214,067 (GRCm38) missense probably damaging 0.96
R0121:Tecpr1 UTSW 5 144,210,199 (GRCm38) missense probably benign 0.02
R0125:Tecpr1 UTSW 5 144,197,899 (GRCm38) missense probably damaging 1.00
R0194:Tecpr1 UTSW 5 144,218,517 (GRCm38) missense probably damaging 1.00
R0376:Tecpr1 UTSW 5 144,207,476 (GRCm38) missense possibly damaging 0.94
R0441:Tecpr1 UTSW 5 144,195,941 (GRCm38) missense probably benign
R0504:Tecpr1 UTSW 5 144,214,081 (GRCm38) missense probably damaging 0.99
R0538:Tecpr1 UTSW 5 144,206,274 (GRCm38) missense probably damaging 0.99
R0586:Tecpr1 UTSW 5 144,217,401 (GRCm38) missense probably damaging 1.00
R0607:Tecpr1 UTSW 5 144,212,590 (GRCm38) missense probably damaging 1.00
R0608:Tecpr1 UTSW 5 144,211,499 (GRCm38) missense probably damaging 1.00
R0656:Tecpr1 UTSW 5 144,214,053 (GRCm38) splice site probably null
R0835:Tecpr1 UTSW 5 144,212,592 (GRCm38) missense possibly damaging 0.81
R1080:Tecpr1 UTSW 5 144,216,929 (GRCm38) missense probably damaging 1.00
R1394:Tecpr1 UTSW 5 144,206,539 (GRCm38) missense possibly damaging 0.77
R1597:Tecpr1 UTSW 5 144,214,310 (GRCm38) missense probably benign 0.00
R1663:Tecpr1 UTSW 5 144,197,944 (GRCm38) missense probably benign 0.17
R1785:Tecpr1 UTSW 5 144,208,645 (GRCm38) missense probably benign 0.01
R1786:Tecpr1 UTSW 5 144,208,645 (GRCm38) missense probably benign 0.01
R1833:Tecpr1 UTSW 5 144,208,608 (GRCm38) missense probably damaging 0.99
R1883:Tecpr1 UTSW 5 144,206,529 (GRCm38) missense probably benign 0.03
R1988:Tecpr1 UTSW 5 144,204,697 (GRCm38) missense possibly damaging 0.94
R2130:Tecpr1 UTSW 5 144,208,645 (GRCm38) missense probably benign 0.01
R2131:Tecpr1 UTSW 5 144,208,645 (GRCm38) missense probably benign 0.01
R2132:Tecpr1 UTSW 5 144,208,645 (GRCm38) missense probably benign 0.01
R2133:Tecpr1 UTSW 5 144,208,645 (GRCm38) missense probably benign 0.01
R2172:Tecpr1 UTSW 5 144,211,456 (GRCm38) missense probably benign 0.10
R2172:Tecpr1 UTSW 5 144,196,417 (GRCm38) missense probably damaging 1.00
R2290:Tecpr1 UTSW 5 144,214,063 (GRCm38) missense probably damaging 0.99
R3691:Tecpr1 UTSW 5 144,209,979 (GRCm38) missense probably benign 0.10
R4027:Tecpr1 UTSW 5 144,206,259 (GRCm38) missense probably benign 0.41
R4587:Tecpr1 UTSW 5 144,212,590 (GRCm38) missense probably damaging 0.96
R4864:Tecpr1 UTSW 5 144,214,117 (GRCm38) missense probably benign 0.00
R4932:Tecpr1 UTSW 5 144,204,658 (GRCm38) missense probably damaging 0.97
R4955:Tecpr1 UTSW 5 144,217,257 (GRCm38) missense probably damaging 1.00
R5043:Tecpr1 UTSW 5 144,197,854 (GRCm38) splice site probably null
R5459:Tecpr1 UTSW 5 144,207,416 (GRCm38) missense probably damaging 1.00
R5579:Tecpr1 UTSW 5 144,214,344 (GRCm38) missense possibly damaging 0.55
R5677:Tecpr1 UTSW 5 144,218,633 (GRCm38) nonsense probably null
R5679:Tecpr1 UTSW 5 144,207,423 (GRCm38) missense possibly damaging 0.69
R5802:Tecpr1 UTSW 5 144,206,546 (GRCm38) missense probably benign 0.28
R6000:Tecpr1 UTSW 5 144,211,421 (GRCm38) missense probably benign 0.02
R6022:Tecpr1 UTSW 5 144,199,191 (GRCm38) missense possibly damaging 0.95
R6114:Tecpr1 UTSW 5 144,204,640 (GRCm38) missense possibly damaging 0.81
R6251:Tecpr1 UTSW 5 144,198,576 (GRCm38) missense probably damaging 0.97
R6372:Tecpr1 UTSW 5 144,216,958 (GRCm38) missense probably damaging 1.00
R6493:Tecpr1 UTSW 5 144,209,974 (GRCm38) missense probably benign
R7276:Tecpr1 UTSW 5 144,217,020 (GRCm38) nonsense probably null
R7314:Tecpr1 UTSW 5 144,217,332 (GRCm38) missense probably damaging 1.00
R7375:Tecpr1 UTSW 5 144,208,599 (GRCm38) missense possibly damaging 0.68
R7632:Tecpr1 UTSW 5 144,218,726 (GRCm38) missense probably benign 0.03
R7702:Tecpr1 UTSW 5 144,203,418 (GRCm38) missense probably damaging 1.00
R8135:Tecpr1 UTSW 5 144,198,602 (GRCm38) missense probably damaging 0.99
R8406:Tecpr1 UTSW 5 144,200,840 (GRCm38) missense probably damaging 1.00
R8844:Tecpr1 UTSW 5 144,216,299 (GRCm38) missense possibly damaging 0.94
R8856:Tecpr1 UTSW 5 144,216,299 (GRCm38) missense possibly damaging 0.94
R8857:Tecpr1 UTSW 5 144,216,299 (GRCm38) missense possibly damaging 0.94
R8866:Tecpr1 UTSW 5 144,216,299 (GRCm38) missense possibly damaging 0.94
R8903:Tecpr1 UTSW 5 144,214,027 (GRCm38) intron probably benign
R8926:Tecpr1 UTSW 5 144,216,962 (GRCm38) missense probably damaging 1.00
R9218:Tecpr1 UTSW 5 144,217,231 (GRCm38) missense possibly damaging 0.70
R9423:Tecpr1 UTSW 5 144,218,578 (GRCm38) missense probably damaging 0.98
RF001:Tecpr1 UTSW 5 144,217,386 (GRCm38) missense probably damaging 0.99
Z1176:Tecpr1 UTSW 5 144,218,591 (GRCm38) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- AAGCTACTCTCAGAGGGGTG -3'
(R):5'- TGACATCAGTAATGGAAGCTGG -3'

Sequencing Primer
(F):5'- CTACTCTCAGAGGGGTGTGGTC -3'
(R):5'- CTAGAATGGCTCTTGGGCTCC -3'
Posted On 2015-10-21