Incidental Mutation 'R7314:Tecpr1'
ID 567821
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 045412-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7314 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144154150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 101 (L101P)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably damaging
Transcript: ENSMUST00000085701
AA Change: L101P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: L101P

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
Meta Mutation Damage Score 0.2876 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik G A 7: 29,989,320 (GRCm39) V177I unknown Het
4930596D02Rik A G 14: 35,533,606 (GRCm39) V54A probably benign Het
Abcc10 C A 17: 46,626,330 (GRCm39) A704S probably damaging Het
Adss2 A G 1: 177,595,317 (GRCm39) W408R probably damaging Het
Aplp1 T C 7: 30,135,414 (GRCm39) E548G probably damaging Het
C4b C T 17: 34,959,330 (GRCm39) V415I probably benign Het
Celsr3 T C 9: 108,706,343 (GRCm39) V942A probably damaging Het
Cstf1 A G 2: 172,214,954 (GRCm39) D25G probably damaging Het
Dnah14 A T 1: 181,612,819 (GRCm39) probably null Het
Dnah9 G A 11: 65,880,677 (GRCm39) T2640I probably benign Het
Dnase2b T C 3: 146,288,151 (GRCm39) I315V probably damaging Het
Endod1 T C 9: 14,268,295 (GRCm39) S397G probably benign Het
Eps8 A G 6: 137,504,090 (GRCm39) V171A possibly damaging Het
Ghdc T C 11: 100,659,928 (GRCm39) E273G probably damaging Het
Hmgn2-ps C T 8: 73,058,839 (GRCm39) G63R probably damaging Het
Hspbap1 T A 16: 35,645,541 (GRCm39) S409T probably benign Het
Ireb2 T C 9: 54,799,794 (GRCm39) Y412H probably damaging Het
Jph4 TCCATTCTCGTATACCCCA TCCA 14: 55,347,196 (GRCm39) probably benign Het
Klhl6 A G 16: 19,775,755 (GRCm39) Y268H probably damaging Het
Krt16 T C 11: 100,138,695 (GRCm39) D197G probably damaging Het
Lca5 T C 9: 83,277,563 (GRCm39) K594E possibly damaging Het
Lgi3 T C 14: 70,769,552 (GRCm39) F84S probably damaging Het
Lingo3 T C 10: 80,670,707 (GRCm39) I408V possibly damaging Het
Map3k7 G T 4: 31,985,769 (GRCm39) E231* probably null Het
Nrip1 A G 16: 76,088,078 (GRCm39) S1160P probably benign Het
Oas1g A T 5: 121,016,526 (GRCm39) L301Q probably damaging Het
Obox3 T A 7: 15,361,079 (GRCm39) Q62L possibly damaging Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Or6b13 A T 7: 139,782,326 (GRCm39) V119D probably damaging Het
Parp8 G T 13: 117,004,996 (GRCm39) F727L probably benign Het
Pcdha1 T C 18: 37,064,553 (GRCm39) Y406H probably damaging Het
Pcdhgb8 A G 18: 37,896,052 (GRCm39) D374G probably damaging Het
Pdzd8 A T 19: 59,289,783 (GRCm39) L539* probably null Het
Phkb A G 8: 86,669,021 (GRCm39) probably null Het
Ppp1r13b T C 12: 111,812,790 (GRCm39) E143G probably damaging Het
Rpap2 T C 5: 107,768,245 (GRCm39) V361A probably damaging Het
Setd4 T C 16: 93,384,711 (GRCm39) T326A probably benign Het
Smad9 A G 3: 54,696,744 (GRCm39) N270D probably benign Het
Sntg2 A G 12: 30,317,107 (GRCm39) S172P probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmprss11f T C 5: 86,671,912 (GRCm39) T427A possibly damaging Het
Trhr2 A G 8: 123,085,489 (GRCm39) V165A possibly damaging Het
Ubr3 T A 2: 69,821,944 (GRCm39) L1402Q probably damaging Het
Vps13c T A 9: 67,850,622 (GRCm39) probably null Het
Zfp369 T C 13: 65,439,918 (GRCm39) S201P 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
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
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'- ATGGTATTCAATCCCGGAGCAG -3'
(R):5'- ATCATCCTAGGCCCTGCATC -3'

Sequencing Primer
(F):5'- CAGGCGGAGGTTGGACAC -3'
(R):5'- AGGCCCTGCATCCCACATTG -3'
Posted On 2019-06-26