Incidental Mutation 'R5677:Tecpr1'
ID 442778
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 043316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5677 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 144155451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 36 (K36*)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably null
Transcript: ENSMUST00000085701
AA Change: K36*
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: K36*

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: ENSMUST00000136018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196360
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik C T 10: 28,862,225 (GRCm39) V22I probably benign Het
Abca8a A T 11: 109,929,225 (GRCm39) V1296D possibly damaging Het
Abca8b C T 11: 109,831,687 (GRCm39) S1328N probably damaging Het
Adcy1 G A 11: 7,111,914 (GRCm39) M926I probably damaging Het
Aff4 G T 11: 53,291,102 (GRCm39) M687I possibly damaging Het
Agbl2 T A 2: 90,638,322 (GRCm39) Y636N possibly damaging Het
Agtr1a A T 13: 30,565,567 (GRCm39) I211F probably damaging Het
Alkbh8 T G 9: 3,385,147 (GRCm39) S480A possibly damaging Het
Ankrd13b A T 11: 77,368,370 (GRCm39) V84E probably damaging Het
Ap3b1 C T 13: 94,664,704 (GRCm39) T881I unknown Het
Apbb1 A C 7: 105,208,453 (GRCm39) D617E probably damaging Het
Apobec4 A G 1: 152,633,033 (GRCm39) R354G probably benign Het
Brdt T G 5: 107,496,483 (GRCm39) C198W possibly damaging Het
Cacna1b G T 2: 24,569,370 (GRCm39) H851Q possibly damaging Het
Car2 G T 3: 14,963,115 (GRCm39) V217F possibly damaging Het
Ccdc24 A C 4: 117,727,077 (GRCm39) probably benign Het
Chodl C A 16: 78,738,203 (GRCm39) A57E probably damaging Het
Clgn G T 8: 84,136,167 (GRCm39) C185F probably damaging Het
Cltc G T 11: 86,596,068 (GRCm39) N1223K probably damaging Het
Cnot10 T C 9: 114,458,161 (GRCm39) N115S probably damaging Het
Col12a1 T C 9: 79,606,603 (GRCm39) R607G probably damaging Het
Cpd A G 11: 76,690,651 (GRCm39) V835A probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Csmd3 G C 15: 48,485,447 (GRCm39) L153V probably damaging Het
Ctr9 A G 7: 110,643,209 (GRCm39) H527R probably benign Het
Cwc22 G A 2: 77,759,787 (GRCm39) R87W probably damaging Het
D930020B18Rik T A 10: 121,505,106 (GRCm39) N107K probably benign Het
Dgkg C A 16: 22,388,921 (GRCm39) V418L probably benign Het
Dhx40 A G 11: 86,691,789 (GRCm39) probably null Het
Diaph1 A T 18: 37,989,004 (GRCm39) M910K probably damaging Het
Diras2 T A 13: 52,661,711 (GRCm39) M199L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock5 T A 14: 68,015,052 (GRCm39) Q1302H probably benign Het
Dync1i2 T C 2: 71,058,967 (GRCm39) S90P probably benign Het
E2f8 A T 7: 48,516,943 (GRCm39) V812E probably damaging Het
Egfem1 C A 3: 29,744,323 (GRCm39) Q521K probably damaging Het
Fbxl18 A T 5: 142,864,475 (GRCm39) C699* probably null Het
Fgf3 C T 7: 144,392,520 (GRCm39) R26* probably null Het
Fpr-rs7 T G 17: 20,334,365 (GRCm39) I42L probably benign Het
Gm3159 T A 14: 4,398,582 (GRCm38) M91K probably damaging Het
Gprin3 A G 6: 59,330,877 (GRCm39) S477P possibly damaging Het
Grm8 A T 6: 27,761,203 (GRCm39) probably null Het
Hepacam2 A T 6: 3,466,142 (GRCm39) D420E probably damaging Het
Hmcn1 A T 1: 150,485,529 (GRCm39) W4358R probably benign Het
Ifna6 G A 4: 88,745,956 (GRCm39) A102T probably benign Het
Ighv2-2 T C 12: 113,552,142 (GRCm39) Q32R probably benign Het
Igkv1-131 T A 6: 67,743,242 (GRCm39) Q47L possibly damaging Het
Il16 T C 7: 83,323,761 (GRCm39) E263G probably damaging Het
Kansl1 A T 11: 104,225,974 (GRCm39) C981S probably benign Het
Lrp1 A T 10: 127,410,298 (GRCm39) F1483I probably damaging Het
Ltf T C 9: 110,849,980 (GRCm39) M1T probably null Het
Ly75 C T 2: 60,129,426 (GRCm39) R1653H probably benign Het
Macrod2 T C 2: 142,018,587 (GRCm39) F240S probably damaging Het
Man1c1 T C 4: 134,296,371 (GRCm39) E433G probably damaging Het
Mansc4 A T 6: 146,983,047 (GRCm39) M130K probably benign Het
Mccc1 C T 3: 36,044,197 (GRCm39) probably null Het
Mink1 G T 11: 70,495,991 (GRCm39) R75L possibly damaging Het
Mst1 A G 9: 107,958,485 (GRCm39) D65G probably damaging Het
Myo9b C T 8: 71,796,330 (GRCm39) A857V probably damaging Het
Ndufa4 A G 6: 11,900,574 (GRCm39) V70A probably benign Het
Npat T A 9: 53,466,400 (GRCm39) S230T probably benign Het
Nr1d1 A G 11: 98,662,134 (GRCm39) Y167H probably damaging Het
Oca2 A G 7: 56,064,210 (GRCm39) D735G probably damaging Het
Odr4 G A 1: 150,250,588 (GRCm39) L319F probably damaging Het
Or2a7 T C 6: 43,151,265 (GRCm39) V115A probably benign Het
Or2b2 C T 13: 21,887,393 (GRCm39) T74I probably benign Het
Or2y13 A G 11: 49,414,771 (GRCm39) T74A probably damaging Het
Or7g20 T A 9: 18,946,854 (GRCm39) I145N possibly damaging Het
Otop1 A G 5: 38,457,507 (GRCm39) Y422C probably damaging Het
Pde4dip G A 3: 97,748,964 (GRCm39) R126* probably null Het
Pdp2 C T 8: 105,321,320 (GRCm39) P390S probably damaging Het
Pds5b A T 5: 150,639,926 (GRCm39) T14S possibly damaging Het
Pfkp T C 13: 6,638,631 (GRCm39) E580G probably damaging Het
Piezo2 A T 18: 63,250,767 (GRCm39) L212Q possibly damaging Het
Piezo2 G C 18: 63,250,768 (GRCm39) L444V probably benign Het
Pla2g4d T A 2: 120,109,429 (GRCm39) T207S possibly damaging Het
Plk2 C A 13: 110,535,591 (GRCm39) T471K possibly damaging Het
Potefam1 T C 2: 111,041,910 (GRCm39) T342A probably benign Het
Potegl T A 2: 23,102,730 (GRCm39) L156Q probably damaging Het
Ppp1r3g G A 13: 36,153,245 (GRCm39) E222K probably damaging Het
Pramel28 A T 4: 143,691,708 (GRCm39) D338E possibly damaging Het
Prkcg A G 7: 3,371,974 (GRCm39) D480G probably damaging Het
Pxdc1 T A 13: 34,836,178 (GRCm39) T81S probably benign Het
Rnf150 A T 8: 83,730,228 (GRCm39) K253* probably null Het
Sae1 T C 7: 16,104,387 (GRCm39) probably null Het
Scin C T 12: 40,113,258 (GRCm39) D538N probably damaging Het
Serpinb3c C A 1: 107,199,533 (GRCm39) K329N probably damaging Het
Sgo2b T A 8: 64,380,008 (GRCm39) K941N possibly damaging Het
Six1 C T 12: 73,093,058 (GRCm39) S48N possibly damaging Het
Slc39a8 G A 3: 135,590,449 (GRCm39) G381R probably damaging Het
Slc9b1 A G 3: 135,063,320 (GRCm39) K35E unknown Het
Srek1 C T 13: 103,895,752 (GRCm39) A274T probably damaging Het
Steap2 A T 5: 5,727,497 (GRCm39) Y279* probably null Het
Svil T A 18: 5,046,823 (GRCm39) L110* probably null Het
Syncrip T C 9: 88,338,762 (GRCm39) probably benign Het
Tcf20 A G 15: 82,737,443 (GRCm39) I1336T probably benign Het
Tenm2 A G 11: 36,032,510 (GRCm39) V670A probably damaging Het
Thbd G A 2: 148,249,286 (GRCm39) T194I probably damaging Het
Tm9sf2 A T 14: 122,389,374 (GRCm39) probably null Het
Tmtc4 A T 14: 123,187,911 (GRCm39) I225N probably damaging Het
Tpp1 C T 7: 105,396,743 (GRCm39) V425M probably damaging Het
Trbc2 T A 6: 41,524,746 (GRCm39) Y144* probably null Het
Trps1 T C 15: 50,709,504 (GRCm39) D282G probably damaging Het
Tsc22d4 T A 5: 137,745,404 (GRCm39) S9R probably damaging Het
Upp1 T A 11: 9,086,025 (GRCm39) D287E probably benign Het
Uso1 A C 5: 92,349,158 (GRCm39) Q916H probably damaging Het
Uty T A Y: 1,134,902 (GRCm39) Y884F probably damaging Het
Vmn1r222 T C 13: 23,416,950 (GRCm39) R88G probably damaging Het
Vmn1r79 T C 7: 11,910,928 (GRCm39) V270A possibly damaging Het
Zbtb22 T C 17: 34,136,709 (GRCm39) S285P probably benign Het
Zfp385a A G 15: 103,226,492 (GRCm39) V82A probably damaging Het
Zfp59 T C 7: 27,553,594 (GRCm39) F349L probably benign Het
Zfp780b T G 7: 27,662,224 (GRCm39) H777P probably benign Het
Zfp82 T C 7: 29,756,549 (GRCm39) T178A probably benign Het
Zfp850 T C 7: 27,688,513 (GRCm39) Y565C probably damaging Het
Zfp957 A G 14: 79,450,207 (GRCm39) Y531H 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
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
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'- GGAGATCAGCACCCTAATTCAC -3'
(R):5'- ACAGGGTTCTCACGATGTCC -3'

Sequencing Primer
(F):5'- AATACTGCTGACCACCTTGG -3'
(R):5'- TCACGATGTCCCTGGTCCAG -3'
Posted On 2016-11-09