Incidental Mutation 'IGL00535:Tex28'
ID 14434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex28
Ensembl Gene ENSMUSG00000062564
Gene Name testis expressed 28
Synonyms LOC385380
Accession Numbers
Essential gene? Not available question?
Stock # IGL00535
Quality Score
Status
Chromosome X
Chromosomal Location 73194550-73211444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73204647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 215 (H215R)
Ref Sequence ENSEMBL: ENSMUSP00000109967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078060] [ENSMUST00000114328]
AlphaFold B1AYN9
Predicted Effect probably damaging
Transcript: ENSMUST00000078060
AA Change: H215R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077207
Gene: ENSMUSG00000062564
AA Change: H215R

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 46 151 1.3e-28 PFAM
Pfam:Tmemb_cc2 131 380 2.3e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114328
AA Change: H215R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109967
Gene: ENSMUSG00000062564
AA Change: H215R

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 44 382 6.8e-112 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T G 17: 79,935,328 (GRCm39) probably benign Het
Armc3 A G 2: 19,308,669 (GRCm39) E767G possibly damaging Het
Btaf1 A T 19: 36,974,935 (GRCm39) D1403V probably damaging Het
Chd2 C A 7: 73,190,576 (GRCm39) M2I probably benign Het
Cyp2r1 C A 7: 114,151,061 (GRCm39) M419I probably benign Het
Dnttip2 A T 3: 122,078,148 (GRCm39) R727W probably damaging Het
Gtf3c1 G T 7: 125,243,325 (GRCm39) H1760N probably benign Het
Iffo1 C T 6: 125,137,516 (GRCm39) A532V probably damaging Het
Ints6 T C 14: 62,940,628 (GRCm39) D574G probably damaging Het
Rims1 A T 1: 22,503,172 (GRCm39) S671T probably benign Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Spam1 T A 6: 24,796,722 (GRCm39) Y224* probably null Het
Spata6l T A 19: 28,937,073 (GRCm39) probably benign Het
Spata7 A C 12: 98,635,099 (GRCm39) E345A probably damaging Het
Tbc1d32 A G 10: 56,091,221 (GRCm39) probably benign Het
Tmigd3 A T 3: 105,824,384 (GRCm39) R118* probably null Het
Wnk4 T A 11: 101,155,175 (GRCm39) M362K probably damaging Het
Other mutations in Tex28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Tex28 APN X 73,194,830 (GRCm39) missense possibly damaging 0.83
IGL01710:Tex28 APN X 73,195,939 (GRCm39) nonsense probably null
Z1176:Tex28 UTSW X 73,205,106 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06