Incidental Mutation 'IGL01960:Tecpr1'
ID182354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Nametectonin beta-propeller repeat containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01960
Quality Score
Status
Chromosome5
Chromosomal Location144194442-144223615 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 144216919 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 172 (R172Q)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
Predicted Effect probably benign
Transcript: ENSMUST00000085701
AA Change: R172Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: R172Q

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G A 4: 130,012,384 probably benign Het
Adh7 T C 3: 138,226,282 I219T probably damaging Het
Ankmy1 C A 1: 92,871,663 probably benign Het
Aoc1 A G 6: 48,908,603 I681V probably benign Het
Arfgap3 T C 15: 83,313,557 T333A probably benign Het
Cdc42ep4 A G 11: 113,729,004 V187A probably benign Het
Cyp4f40 G A 17: 32,659,561 G26R probably benign Het
Dnah7b T A 1: 46,124,337 probably benign Het
Dnajb4 T C 3: 152,186,539 E219G probably damaging Het
Dnmt3b A G 2: 153,676,711 K578R possibly damaging Het
Dst A T 1: 34,290,489 D4649V probably damaging Het
Fam20c T C 5: 138,806,320 S391P probably damaging Het
Fbxw10 A T 11: 62,876,756 Y801F probably damaging Het
Frem2 T G 3: 53,522,304 E2775A probably benign Het
Frmd4b A T 6: 97,295,780 S830T possibly damaging Het
Gatad2a T G 8: 69,909,948 S581R possibly damaging Het
Gpcpd1 C T 2: 132,539,898 probably null Het
Igsf10 A G 3: 59,318,737 L2505P probably benign Het
Igsf9b A G 9: 27,328,606 D649G possibly damaging Het
Impact T C 18: 12,974,758 C28R probably benign Het
Ino80d G T 1: 63,058,147 Q863K probably damaging Het
Iqsec1 A C 6: 90,676,780 M675R probably damaging Het
Kcng3 C T 17: 83,587,850 V396I probably damaging Het
Klhl18 A T 9: 110,450,746 D60E probably benign Het
Krtap7-1 C T 16: 89,508,268 probably benign Het
Mal2 T A 15: 54,598,545 Y145* probably null Het
Mcpt8 A T 14: 56,082,407 probably null Het
Mdn1 A G 4: 32,758,393 D4810G probably benign Het
Med24 T C 11: 98,707,542 I766V probably benign Het
Mga G A 2: 119,938,657 V1477M probably damaging Het
Mybph T A 1: 134,193,925 V112E probably benign Het
Nmur2 A T 11: 56,040,511 S125T probably damaging Het
Olfr322 T C 11: 58,665,865 V102A probably benign Het
Olfr805 A G 10: 129,722,887 I219T probably damaging Het
Olfr907 A T 9: 38,498,707 I13F probably damaging Het
Otop3 A G 11: 115,340,969 N220S probably damaging Het
Pacsin1 T G 17: 27,704,835 probably null Het
Pcsk1 A G 13: 75,093,167 R89G possibly damaging Het
Pde2a A T 7: 101,504,740 E509V probably benign Het
Pex1 T C 5: 3,627,588 probably benign Het
Ppp4r4 T G 12: 103,581,494 probably benign Het
Pygb T A 2: 150,813,483 N251K probably benign Het
Rsf1 C T 7: 97,661,575 T504I probably benign Het
Slc5a11 A T 7: 123,269,940 T584S probably benign Het
Smad2 G A 18: 76,262,484 probably benign Het
Srsf6 G A 2: 162,933,754 R161H probably damaging Het
Tbx3 T A 5: 119,682,643 S573T probably benign Het
Ttn T A 2: 76,788,900 probably null Het
Ubr2 T C 17: 46,973,967 M542V probably benign Het
Unc80 T C 1: 66,608,500 probably benign Het
Vmn1r222 T A 13: 23,232,145 K299N probably benign Het
Wwp1 A T 4: 19,662,115 probably benign Het
Zbtb46 T A 2: 181,424,135 H74L possibly damaging Het
Zfp106 A G 2: 120,539,322 L73S probably benign Het
Zfp106 A T 2: 120,524,043 L1416I probably damaging Het
Zfp667 G A 7: 6,305,337 G335R probably benign Het
Other mutations in Tecpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Tecpr1 APN 5 144208593 critical splice donor site probably null
IGL01774:Tecpr1 APN 5 144211540 missense probably damaging 0.97
IGL01973:Tecpr1 APN 5 144197988 splice site probably benign
IGL02244:Tecpr1 APN 5 144210003 missense probably benign
IGL02247:Tecpr1 APN 5 144206554 missense possibly damaging 0.64
IGL02423:Tecpr1 APN 5 144203487 missense possibly damaging 0.88
IGL02679:Tecpr1 APN 5 144206546 missense probably benign 0.28
larghissimo UTSW 5 144217257 missense probably damaging 1.00
PIT4531001:Tecpr1 UTSW 5 144214067 missense probably damaging 0.96
R0121:Tecpr1 UTSW 5 144210199 missense probably benign 0.02
R0125:Tecpr1 UTSW 5 144197899 missense probably damaging 1.00
R0194:Tecpr1 UTSW 5 144218517 missense probably damaging 1.00
R0376:Tecpr1 UTSW 5 144207476 missense possibly damaging 0.94
R0441:Tecpr1 UTSW 5 144195941 missense probably benign
R0504:Tecpr1 UTSW 5 144214081 missense probably damaging 0.99
R0538:Tecpr1 UTSW 5 144206274 missense probably damaging 0.99
R0586:Tecpr1 UTSW 5 144217401 missense probably damaging 1.00
R0607:Tecpr1 UTSW 5 144212590 missense probably damaging 1.00
R0608:Tecpr1 UTSW 5 144211499 missense probably damaging 1.00
R0656:Tecpr1 UTSW 5 144214053 splice site probably null
R0835:Tecpr1 UTSW 5 144212592 missense possibly damaging 0.81
R1080:Tecpr1 UTSW 5 144216929 missense probably damaging 1.00
R1394:Tecpr1 UTSW 5 144206539 missense possibly damaging 0.77
R1597:Tecpr1 UTSW 5 144214310 missense probably benign 0.00
R1663:Tecpr1 UTSW 5 144197944 missense probably benign 0.17
R1785:Tecpr1 UTSW 5 144208645 missense probably benign 0.01
R1786:Tecpr1 UTSW 5 144208645 missense probably benign 0.01
R1833:Tecpr1 UTSW 5 144208608 missense probably damaging 0.99
R1883:Tecpr1 UTSW 5 144206529 missense probably benign 0.03
R1988:Tecpr1 UTSW 5 144204697 missense possibly damaging 0.94
R2130:Tecpr1 UTSW 5 144208645 missense probably benign 0.01
R2131:Tecpr1 UTSW 5 144208645 missense probably benign 0.01
R2132:Tecpr1 UTSW 5 144208645 missense probably benign 0.01
R2133:Tecpr1 UTSW 5 144208645 missense probably benign 0.01
R2172:Tecpr1 UTSW 5 144196417 missense probably damaging 1.00
R2172:Tecpr1 UTSW 5 144211456 missense probably benign 0.10
R2290:Tecpr1 UTSW 5 144214063 missense probably damaging 0.99
R3691:Tecpr1 UTSW 5 144209979 missense probably benign 0.10
R4027:Tecpr1 UTSW 5 144206259 missense probably benign 0.41
R4587:Tecpr1 UTSW 5 144212590 missense probably damaging 0.96
R4684:Tecpr1 UTSW 5 144207437 missense probably benign 0.16
R4864:Tecpr1 UTSW 5 144214117 missense probably benign 0.00
R4932:Tecpr1 UTSW 5 144204658 missense probably damaging 0.97
R4955:Tecpr1 UTSW 5 144217257 missense probably damaging 1.00
R5043:Tecpr1 UTSW 5 144197854 splice site probably null
R5459:Tecpr1 UTSW 5 144207416 missense probably damaging 1.00
R5579:Tecpr1 UTSW 5 144214344 missense possibly damaging 0.55
R5677:Tecpr1 UTSW 5 144218633 nonsense probably null
R5679:Tecpr1 UTSW 5 144207423 missense possibly damaging 0.69
R5802:Tecpr1 UTSW 5 144206546 missense probably benign 0.28
R6000:Tecpr1 UTSW 5 144211421 missense probably benign 0.02
R6022:Tecpr1 UTSW 5 144199191 missense possibly damaging 0.95
R6114:Tecpr1 UTSW 5 144204640 missense possibly damaging 0.81
R6251:Tecpr1 UTSW 5 144198576 missense probably damaging 0.97
R6372:Tecpr1 UTSW 5 144216958 missense probably damaging 1.00
R6493:Tecpr1 UTSW 5 144209974 missense probably benign
R7276:Tecpr1 UTSW 5 144217020 nonsense probably null
R7314:Tecpr1 UTSW 5 144217332 missense probably damaging 1.00
R7375:Tecpr1 UTSW 5 144208599 missense possibly damaging 0.68
R7632:Tecpr1 UTSW 5 144218726 missense probably benign 0.03
R7702:Tecpr1 UTSW 5 144203418 missense probably damaging 1.00
R8135:Tecpr1 UTSW 5 144198602 missense probably damaging 0.99
R8406:Tecpr1 UTSW 5 144200840 missense probably damaging 1.00
R8844:Tecpr1 UTSW 5 144216299 missense possibly damaging 0.94
R8856:Tecpr1 UTSW 5 144216299 missense possibly damaging 0.94
R8857:Tecpr1 UTSW 5 144216299 missense possibly damaging 0.94
R8866:Tecpr1 UTSW 5 144216299 missense possibly damaging 0.94
RF001:Tecpr1 UTSW 5 144217386 missense probably damaging 0.99
Z1176:Tecpr1 UTSW 5 144218591 missense probably benign 0.28
Posted On2014-05-07