Incidental Mutation 'R0376:Tecpr1'
ID 30742
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 038582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0376 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144144294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 636 (V636E)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000085701
AA Change: V636E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: V636E

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T C 12: 113,508,310 (GRCm39) Y228H probably damaging Het
Als2 A G 1: 59,254,724 (GRCm39) F211S probably benign Het
Ankrd12 T A 17: 66,360,004 (GRCm39) Q11L probably damaging Het
Anxa5 T C 3: 36,514,637 (GRCm39) R115G probably damaging Het
Arhgap10 T C 8: 78,177,453 (GRCm39) probably benign Het
Atp2a3 T A 11: 72,873,528 (GRCm39) D782E probably damaging Het
Bcr G T 10: 74,981,159 (GRCm39) L659F probably damaging Het
Cacna1b A G 2: 24,549,015 (GRCm39) probably benign Het
Camp C T 9: 109,677,467 (GRCm39) C122Y probably damaging Het
Cimip1 G A 2: 173,370,120 (GRCm39) E132K probably benign Het
Col12a1 A T 9: 79,600,776 (GRCm39) S769R probably benign Het
Cyp2j6 T A 4: 96,414,260 (GRCm39) K335I probably damaging Het
Cyp3a11 A C 5: 145,799,262 (GRCm39) Y308* probably null Het
Flnb G A 14: 7,946,014 (GRCm38) probably null Het
Frmd4a G T 2: 4,577,198 (GRCm39) M351I probably damaging Het
Gabrg2 C T 11: 41,807,142 (GRCm39) S365N possibly damaging Het
Ggn T C 7: 28,872,447 (GRCm39) V609A possibly damaging Het
H60c T C 10: 3,210,435 (GRCm39) probably benign Het
Hexd T A 11: 121,108,991 (GRCm39) probably benign Het
Igsf9b A G 9: 27,245,878 (GRCm39) T1282A probably benign Het
Ikzf4 T C 10: 128,468,625 (GRCm39) N618S probably benign Het
Ints14 A G 9: 64,891,272 (GRCm39) K418E probably damaging Het
Iqgap1 T C 7: 80,373,627 (GRCm39) E1454G probably benign Het
Kif13b T C 14: 64,994,853 (GRCm39) probably benign Het
Krt71 A C 15: 101,646,505 (GRCm39) F328C probably damaging Het
Lama2 T C 10: 26,891,542 (GRCm39) T2524A possibly damaging Het
Mfn2 C T 4: 147,969,983 (GRCm39) V363I probably benign Het
Mkln1 A T 6: 31,454,953 (GRCm39) D496V probably benign Het
Or2q1 A T 6: 42,795,226 (GRCm39) M274L probably benign Het
Patj T A 4: 98,457,224 (GRCm39) I1242N probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plcb2 T C 2: 118,547,721 (GRCm39) E502G probably damaging Het
Plppr4 G T 3: 117,116,740 (GRCm39) H314Q probably benign Het
Prkcsh A G 9: 21,921,547 (GRCm39) probably benign Het
Prr14 C T 7: 127,075,815 (GRCm39) H181Y probably benign Het
Pus3 A T 9: 35,477,718 (GRCm39) M317L possibly damaging Het
Pwwp2a T A 11: 43,595,499 (GRCm39) D221E probably benign Het
Rbm15 T C 3: 107,238,254 (GRCm39) S715G probably benign Het
Rbm28 A G 6: 29,158,927 (GRCm39) probably benign Het
Rhobtb2 A T 14: 70,034,184 (GRCm39) V347E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Scgb1b27 C T 7: 33,721,322 (GRCm39) T70I possibly damaging Het
Slc40a1 T C 1: 45,951,651 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca9 A G 2: 28,583,672 (GRCm39) V104A probably benign Het
Spag7 T C 11: 70,560,016 (GRCm39) probably benign Het
Sugp1 A G 8: 70,505,288 (GRCm39) D85G probably damaging Het
Sun1 A G 5: 139,212,454 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,527,850 (GRCm39) probably benign Het
Tead3 A C 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tldc2 T C 2: 156,937,225 (GRCm39) W147R probably damaging Het
Tmem161b A G 13: 84,440,502 (GRCm39) T125A probably benign Het
Trrap A G 5: 144,753,149 (GRCm39) M1825V probably benign Het
Ttbk2 A G 2: 120,608,062 (GRCm39) F186L probably damaging Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Zc3h7a T C 16: 10,974,066 (GRCm39) M240V probably benign Het
Zc3hc1 G C 6: 30,372,789 (GRCm39) S351W probably damaging Het
Zfp366 T C 13: 99,370,759 (GRCm39) M493T probably benign Het
Zfp93 C T 7: 23,975,286 (GRCm39) P424S 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
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
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'- GCCCAAAAGGTCTACTCTGGGAAAC -3'
(R):5'- AGACAGCTTTGACTCCCTCTCTGAC -3'

Sequencing Primer
(F):5'- GTCTACTCTGGGAAACAGTCC -3'
(R):5'- GTAATACAGCTACATCTCTGGCG -3'
Posted On 2013-04-24