Incidental Mutation 'IGL03304:Tex52'
ID 416332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex52
Ensembl Gene ENSMUSG00000079304
Gene Name testis expressed 52
Synonyms 4933413G19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL03304
Quality Score
Status
Chromosome 6
Chromosomal Location 128352473-128362107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128356495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 63 (Y63H)
Ref Sequence ENSEMBL: ENSMUSP00000145112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073316] [ENSMUST00000100926] [ENSMUST00000130785] [ENSMUST00000204223]
AlphaFold Q3TTI8
Predicted Effect probably benign
Transcript: ENSMUST00000073316
SMART Domains Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 35 55 N/A INTRINSIC
low complexity region 110 126 N/A INTRINSIC
low complexity region 140 158 N/A INTRINSIC
FH 232 319 2.86e-42 SMART
low complexity region 429 454 N/A INTRINSIC
low complexity region 504 515 N/A INTRINSIC
low complexity region 533 546 N/A INTRINSIC
low complexity region 685 702 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100926
AA Change: Y63H

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304
AA Change: Y63H

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:DUF4532 28 306 1.9e-158 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130785
AA Change: Y63H

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304
AA Change: Y63H

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:DUF4532 28 223 3.9e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203779
Predicted Effect probably benign
Transcript: ENSMUST00000204223
SMART Domains Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 190 201 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A T 9: 106,312,665 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,438 (GRCm39) probably benign Het
Anapc1 A T 2: 128,469,033 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aoah A G 13: 21,099,180 (GRCm39) probably benign Het
Atp9b A T 18: 80,961,092 (GRCm39) Y40N probably damaging Het
Brd8 A G 18: 34,747,633 (GRCm39) probably benign Het
Cd274 A C 19: 29,361,502 (GRCm39) E270A probably damaging Het
Cic T A 7: 24,984,274 (GRCm39) V23E probably damaging Het
Cpeb4 T C 11: 31,822,739 (GRCm39) L151P probably damaging Het
D3Ertd751e G A 3: 41,701,164 (GRCm39) probably null Het
Diaph1 A T 18: 37,987,626 (GRCm39) D1043E possibly damaging Het
Fcgbpl1 A G 7: 27,841,667 (GRCm39) Y534C probably damaging Het
Hmcn1 T A 1: 150,505,982 (GRCm39) N3848I probably damaging Het
Ifi211 A T 1: 173,735,273 (GRCm39) M52K probably damaging Het
Itih4 T C 14: 30,620,006 (GRCm39) I747T probably damaging Het
Kifbp A C 10: 62,395,082 (GRCm39) L520R probably damaging Het
Lcat T C 8: 106,666,695 (GRCm39) M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 (GRCm39) D282E probably damaging Het
Mst1r T A 9: 107,785,137 (GRCm39) V265D probably damaging Het
Muc4 T A 16: 32,570,257 (GRCm39) L439* probably null Het
Nlrp4e T A 7: 23,052,768 (GRCm39) probably null Het
Ogfod2 A T 5: 124,250,886 (GRCm39) D24V probably damaging Het
Or1ak2 T C 2: 36,827,560 (GRCm39) L143P probably damaging Het
Or5b105 A G 19: 13,080,105 (GRCm39) S182P probably damaging Het
Or9s23 T C 1: 92,501,025 (GRCm39) V44A probably benign Het
Pcnx1 T A 12: 82,028,803 (GRCm39) W1661R probably damaging Het
Pdzph1 G A 17: 59,187,641 (GRCm39) T1193I probably damaging Het
Pias3 A G 3: 96,607,347 (GRCm39) T152A possibly damaging Het
Pla2g5 A T 4: 138,531,880 (GRCm39) Y41* probably null Het
Plxna4 A G 6: 32,141,986 (GRCm39) probably benign Het
Ppp2r2a A C 14: 67,253,977 (GRCm39) V397G probably benign Het
Ripor3 A G 2: 167,822,848 (GRCm39) probably benign Het
Slc35a3 A G 3: 116,480,960 (GRCm39) L101P probably damaging Het
Sptan1 G A 2: 29,876,505 (GRCm39) R295Q probably damaging Het
Syce1 A T 7: 140,357,623 (GRCm39) V314D possibly damaging Het
Tmem63a T A 1: 180,796,418 (GRCm39) Y580* probably null Het
Ube2m T A 7: 12,769,685 (GRCm39) probably benign Het
Vmn1r50 G T 6: 90,084,625 (GRCm39) K123N probably damaging Het
Other mutations in Tex52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02528:Tex52 APN 6 128,356,460 (GRCm39) missense possibly damaging 0.60
R0384:Tex52 UTSW 6 128,356,496 (GRCm39) missense probably damaging 1.00
R0462:Tex52 UTSW 6 128,361,917 (GRCm39) missense probably benign
R2398:Tex52 UTSW 6 128,356,540 (GRCm39) missense probably damaging 1.00
R2413:Tex52 UTSW 6 128,356,871 (GRCm39) missense probably damaging 1.00
R4856:Tex52 UTSW 6 128,361,951 (GRCm39) splice site probably null
R5230:Tex52 UTSW 6 128,361,779 (GRCm39) missense probably damaging 1.00
R5666:Tex52 UTSW 6 128,352,518 (GRCm39) missense probably benign 0.01
R5864:Tex52 UTSW 6 128,356,645 (GRCm39) missense probably benign 0.10
R7685:Tex52 UTSW 6 128,361,921 (GRCm39) splice site probably null
R8527:Tex52 UTSW 6 128,356,828 (GRCm39) missense probably benign 0.38
R9740:Tex52 UTSW 6 128,356,673 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02