Incidental Mutation 'IGL03233:Tshz3'
ID 413984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tshz3
Ensembl Gene ENSMUSG00000021217
Gene Name teashirt zinc finger family member 3
Synonyms Zfp537, Tsh3, A630038G13Rik, teashirt3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03233
Quality Score
Status
Chromosome 7
Chromosomal Location 36397543-36472978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36469504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 498 (Y498N)
Ref Sequence ENSEMBL: ENSMUSP00000021641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021641]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021641
AA Change: Y498N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: Y498N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 123 138 N/A INTRINSIC
low complexity region 142 164 N/A INTRINSIC
ZnF_C2H2 214 238 1.86e0 SMART
ZnF_C2H2 275 299 3.83e-2 SMART
low complexity region 313 334 N/A INTRINSIC
ZnF_C2H2 386 410 5.62e0 SMART
low complexity region 483 497 N/A INTRINSIC
coiled coil region 609 630 N/A INTRINSIC
low complexity region 796 832 N/A INTRINSIC
low complexity region 855 872 N/A INTRINSIC
HOX 890 964 2.55e-4 SMART
ZnF_C2H2 976 998 8.09e0 SMART
ZnF_C2H2 1041 1064 2.4e-3 SMART
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 zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Ano5 C A 7: 51,220,116 (GRCm39) P405T probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Atg4c A T 4: 99,117,740 (GRCm39) Y343F probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Ces1d A G 8: 93,921,707 (GRCm39) Y19H probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dgkk T C X: 6,770,077 (GRCm39) L352P probably damaging Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Esco1 A G 18: 10,574,877 (GRCm39) W208R probably damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Foxp3 T C X: 7,453,662 (GRCm39) probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R possibly damaging Het
Other mutations in Tshz3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Tshz3 APN 7 36,469,385 (GRCm39) missense probably damaging 0.97
IGL01922:Tshz3 APN 7 36,469,030 (GRCm39) missense probably damaging 1.00
IGL02047:Tshz3 APN 7 36,469,893 (GRCm39) missense probably damaging 1.00
IGL02166:Tshz3 APN 7 36,468,346 (GRCm39) missense probably benign 0.00
IGL02405:Tshz3 APN 7 36,469,075 (GRCm39) missense possibly damaging 0.93
IGL02658:Tshz3 APN 7 36,468,583 (GRCm39) missense probably damaging 0.99
IGL02968:Tshz3 APN 7 36,469,249 (GRCm39) missense probably damaging 1.00
IGL03073:Tshz3 APN 7 36,470,170 (GRCm39) missense probably damaging 1.00
IGL03296:Tshz3 APN 7 36,470,761 (GRCm39) missense probably damaging 1.00
R0049:Tshz3 UTSW 7 36,469,534 (GRCm39) missense probably damaging 1.00
R0049:Tshz3 UTSW 7 36,469,534 (GRCm39) missense probably damaging 1.00
R0090:Tshz3 UTSW 7 36,468,317 (GRCm39) missense probably benign
R0329:Tshz3 UTSW 7 36,469,458 (GRCm39) missense probably benign
R0330:Tshz3 UTSW 7 36,469,458 (GRCm39) missense probably benign
R0360:Tshz3 UTSW 7 36,469,958 (GRCm39) missense probably benign
R0364:Tshz3 UTSW 7 36,469,958 (GRCm39) missense probably benign
R0380:Tshz3 UTSW 7 36,470,725 (GRCm39) missense probably damaging 1.00
R0547:Tshz3 UTSW 7 36,470,842 (GRCm39) missense probably damaging 1.00
R1061:Tshz3 UTSW 7 36,468,131 (GRCm39) missense probably damaging 1.00
R1618:Tshz3 UTSW 7 36,471,221 (GRCm39) missense probably damaging 1.00
R1704:Tshz3 UTSW 7 36,470,785 (GRCm39) missense possibly damaging 0.92
R1881:Tshz3 UTSW 7 36,471,079 (GRCm39) missense possibly damaging 0.87
R1926:Tshz3 UTSW 7 36,468,800 (GRCm39) missense probably damaging 1.00
R1994:Tshz3 UTSW 7 36,469,247 (GRCm39) missense probably damaging 0.99
R2404:Tshz3 UTSW 7 36,469,805 (GRCm39) missense probably damaging 0.99
R2447:Tshz3 UTSW 7 36,468,178 (GRCm39) missense probably benign 0.00
R2930:Tshz3 UTSW 7 36,471,017 (GRCm39) missense possibly damaging 0.74
R3879:Tshz3 UTSW 7 36,470,962 (GRCm39) nonsense probably null
R4033:Tshz3 UTSW 7 36,470,009 (GRCm39) missense possibly damaging 0.71
R4212:Tshz3 UTSW 7 36,469,544 (GRCm39) missense probably damaging 1.00
R4394:Tshz3 UTSW 7 36,469,030 (GRCm39) missense probably damaging 1.00
R4779:Tshz3 UTSW 7 36,468,397 (GRCm39) missense probably damaging 1.00
R4977:Tshz3 UTSW 7 36,470,615 (GRCm39) missense probably benign 0.31
R5139:Tshz3 UTSW 7 36,470,450 (GRCm39) missense probably benign 0.23
R5448:Tshz3 UTSW 7 36,470,654 (GRCm39) missense possibly damaging 0.90
R5516:Tshz3 UTSW 7 36,469,775 (GRCm39) missense probably benign 0.03
R5760:Tshz3 UTSW 7 36,470,994 (GRCm39) missense probably damaging 1.00
R6360:Tshz3 UTSW 7 36,468,866 (GRCm39) missense probably damaging 1.00
R6481:Tshz3 UTSW 7 36,451,764 (GRCm39) splice site probably null
R6535:Tshz3 UTSW 7 36,468,214 (GRCm39) missense probably damaging 1.00
R7105:Tshz3 UTSW 7 36,469,181 (GRCm39) missense probably damaging 1.00
R7133:Tshz3 UTSW 7 36,469,994 (GRCm39) missense probably benign 0.12
R7225:Tshz3 UTSW 7 36,469,082 (GRCm39) missense probably damaging 1.00
R7238:Tshz3 UTSW 7 36,469,522 (GRCm39) missense probably damaging 1.00
R7851:Tshz3 UTSW 7 36,471,014 (GRCm39) missense probably damaging 1.00
R7938:Tshz3 UTSW 7 36,468,583 (GRCm39) missense probably damaging 0.99
R8344:Tshz3 UTSW 7 36,470,962 (GRCm39) missense probably damaging 0.98
R9501:Tshz3 UTSW 7 36,470,980 (GRCm39) missense probably damaging 1.00
R9583:Tshz3 UTSW 7 36,470,492 (GRCm39) missense possibly damaging 0.71
X0067:Tshz3 UTSW 7 36,468,746 (GRCm39) missense probably damaging 1.00
X0067:Tshz3 UTSW 7 36,468,221 (GRCm39) missense probably benign 0.19
Z1186:Tshz3 UTSW 7 36,469,999 (GRCm39) missense probably benign
Z1186:Tshz3 UTSW 7 36,468,341 (GRCm39) missense probably benign
Z1191:Tshz3 UTSW 7 36,469,999 (GRCm39) missense probably benign
Z1191:Tshz3 UTSW 7 36,468,341 (GRCm39) missense probably benign
Posted On 2016-08-02