Incidental Mutation 'IGL03304:Tex52'
ID416332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex52
Ensembl Gene ENSMUSG00000079304
Gene Nametestis expressed 52
Synonyms4933413G19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03304
Quality Score
Status
Chromosome6
Chromosomal Location128375456-128385144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128379532 bp
ZygosityHeterozygous
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]
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
9530053A07Rik A G 7: 28,142,242 Y534C probably damaging Het
Acy1 A T 9: 106,435,466 probably null Het
Adamts4 T C 1: 171,252,869 probably benign Het
Anapc1 A T 2: 128,627,113 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aoah A G 13: 20,915,010 probably benign Het
Atp9b A T 18: 80,917,877 Y40N probably damaging Het
Brd8 A G 18: 34,614,580 probably benign Het
Cd274 A C 19: 29,384,102 E270A probably damaging Het
Cic T A 7: 25,284,849 V23E probably damaging Het
Cpeb4 T C 11: 31,872,739 L151P probably damaging Het
D3Ertd751e G A 3: 41,746,729 probably null Het
Diaph1 A T 18: 37,854,573 D1043E possibly damaging Het
Hmcn1 T A 1: 150,630,231 N3848I probably damaging Het
Ifi211 A T 1: 173,907,707 M52K probably damaging Het
Itih4 T C 14: 30,898,049 I747T probably damaging Het
Kif1bp A C 10: 62,559,303 L520R probably damaging Het
Lcat T C 8: 105,940,063 M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 D282E probably damaging Het
Mst1r T A 9: 107,907,938 V265D probably damaging Het
Muc4 T A 16: 32,751,439 L439* probably null Het
Nlrp4e T A 7: 23,353,343 probably null Het
Ogfod2 A T 5: 124,112,823 D24V probably damaging Het
Olfr1413 T C 1: 92,573,303 V44A probably benign Het
Olfr1458 A G 19: 13,102,741 S182P probably damaging Het
Olfr356 T C 2: 36,937,548 L143P probably damaging Het
Pcnx T A 12: 81,982,029 W1661R probably damaging Het
Pdzph1 G A 17: 58,880,646 T1193I probably damaging Het
Pias3 A G 3: 96,700,031 T152A possibly damaging Het
Pla2g5 A T 4: 138,804,569 Y41* probably null Het
Plxna4 A G 6: 32,165,051 probably benign Het
Ppp2r2a A C 14: 67,016,528 V397G probably benign Het
Ripor3 A G 2: 167,980,928 probably benign Het
Slc35a3 A G 3: 116,687,311 L101P probably damaging Het
Sptan1 G A 2: 29,986,493 R295Q probably damaging Het
Syce1 A T 7: 140,777,710 V314D possibly damaging Het
Tmem63a T A 1: 180,968,853 Y580* probably null Het
Ube2m T A 7: 13,035,758 probably benign Het
Vmn1r50 G T 6: 90,107,643 K123N probably damaging Het
Other mutations in Tex52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02528:Tex52 APN 6 128379497 missense possibly damaging 0.60
R0384:Tex52 UTSW 6 128379533 missense probably damaging 1.00
R0462:Tex52 UTSW 6 128384954 missense probably benign
R2398:Tex52 UTSW 6 128379577 missense probably damaging 1.00
R2413:Tex52 UTSW 6 128379908 missense probably damaging 1.00
R4856:Tex52 UTSW 6 128384988 unclassified probably null
R5230:Tex52 UTSW 6 128384816 missense probably damaging 1.00
R5666:Tex52 UTSW 6 128375555 missense probably benign 0.01
R5864:Tex52 UTSW 6 128379682 missense probably benign 0.10
Posted On2016-08-02