Incidental Mutation 'R8527:Tex52'
ID 658856
Institutional Source Beutler Lab
Gene Symbol Tex52
Ensembl Gene ENSMUSG00000079304
Gene Name testis expressed 52
Synonyms 4933413G19Rik
MMRRC Submission 067952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 128352473-128362107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128356828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 174 (V174I)
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 probably benign
Transcript: ENSMUST00000100926
AA Change: V174I

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304
AA Change: V174I

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:DUF4532 28 306 1.9e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130785
AA Change: V174I

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304
AA Change: V174I

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:DUF4532 28 223 3.9e-108 PFAM
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,349,047 (GRCm39) probably null Het
Acsl5 A G 19: 55,280,259 (GRCm39) T511A probably damaging Het
Ankrd35 A G 3: 96,589,353 (GRCm39) I191V probably damaging Het
Apmap T C 2: 150,428,385 (GRCm39) Q254R probably benign Het
Arhgef12 A T 9: 42,908,944 (GRCm39) L661Q possibly damaging Het
Atf7ip2 T A 16: 10,055,129 (GRCm39) probably benign Het
Braf T C 6: 39,604,693 (GRCm39) H592R probably benign Het
Ceacam2 T A 7: 25,238,155 (GRCm39) I90L probably benign Het
Dgcr6 T C 16: 17,887,390 (GRCm39) probably null Het
Efcab12 T C 6: 115,791,535 (GRCm39) I546V probably benign Het
Eya1 G T 1: 14,322,672 (GRCm39) A268E probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Gas6 T C 8: 13,515,790 (GRCm39) I661V probably damaging Het
Gipc3 T A 10: 81,174,055 (GRCm39) M240L possibly damaging Het
Gm12689 A G 4: 99,184,450 (GRCm39) D101G unknown Het
Kctd2 G T 11: 115,320,310 (GRCm39) probably benign Het
Kdm5b A T 1: 134,533,512 (GRCm39) M534L possibly damaging Het
Kif14 T A 1: 136,396,495 (GRCm39) V267D possibly damaging Het
Lca5l C A 16: 95,960,438 (GRCm39) G675C probably damaging Het
Lmod1 T C 1: 135,292,221 (GRCm39) F359L possibly damaging Het
Lonrf1 G T 8: 36,686,986 (GRCm39) N783K possibly damaging Het
Megf10 T C 18: 57,425,790 (GRCm39) S1059P probably benign Het
Mmp24 A G 2: 155,641,634 (GRCm39) E154G probably benign Het
Mtus2 A C 5: 148,240,408 (GRCm39) K85T probably damaging Het
Myh11 T C 16: 14,048,570 (GRCm39) H586R probably damaging Het
Noc2l A G 4: 156,326,187 (GRCm39) T425A probably benign Het
Olfm3 A T 3: 114,916,196 (GRCm39) Q376L probably benign Het
Pax5 A T 4: 44,570,071 (GRCm39) Y272N probably damaging Het
Rasgrp1 A T 2: 117,168,785 (GRCm39) D64E probably benign Het
Rb1cc1 T A 1: 6,315,099 (GRCm39) N417K probably damaging Het
Rpl3l A G 17: 24,954,754 (GRCm39) D369G probably damaging Het
Scn3a G T 2: 65,327,863 (GRCm39) H876N probably damaging Het
Slc29a3 A G 10: 60,566,401 (GRCm39) S111P probably damaging Het
Smarca2 G C 19: 26,654,187 (GRCm39) V791L probably damaging Het
Smc4 T A 3: 68,940,224 (GRCm39) probably null Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tanc2 A G 11: 105,807,834 (GRCm39) E1288G probably damaging Het
Tjp2 C A 19: 24,088,937 (GRCm39) G660W probably damaging Het
Tmem121b T C 6: 120,469,055 (GRCm39) E554G probably damaging Het
Tmem209 C A 6: 30,497,237 (GRCm39) V318F probably damaging Het
Tnxb A G 17: 34,907,634 (GRCm39) E1226G probably damaging Het
Traf3ip3 T A 1: 192,876,851 (GRCm39) I196F probably damaging Het
Trpc4ap G C 2: 155,534,132 (GRCm39) P32R unknown Het
Vav3 A G 3: 109,410,787 (GRCm39) K206R probably damaging Het
Zan T C 5: 137,433,971 (GRCm39) E2254G unknown Het
Other mutations in Tex52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02528:Tex52 APN 6 128,356,460 (GRCm39) missense possibly damaging 0.60
IGL03304:Tex52 APN 6 128,356,495 (GRCm39) missense possibly damaging 0.55
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
R9740:Tex52 UTSW 6 128,356,673 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CCCTATGACAGTAACGTCTGGC -3'
(R):5'- TTTGCAAGGCCATGGGTTCC -3'

Sequencing Primer
(F):5'- GTAACGTCTGGCGCCATTTGAC -3'
(R):5'- TGGGTTCCTGCCATACAAAAG -3'
Posted On 2021-01-18