Incidental Mutation 'R0329:Tshz3'
ID 65102
Institutional Source Beutler Lab
Gene Symbol Tshz3
Ensembl Gene ENSMUSG00000021217
Gene Name teashirt zinc finger family member 3
Synonyms Zfp537, Tsh3, A630038G13Rik, teashirt3
MMRRC Submission 038538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0329 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 36397543-36472978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36469458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 482 (D482E)
Ref Sequence ENSEMBL: ENSMUSP00000021641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021641]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021641
AA Change: D482E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: D482E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 99% (107/108)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,349,430 (GRCm39) H3668L probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adam28 T C 14: 68,855,188 (GRCm39) K651R probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arb2a T A 13: 77,910,070 (GRCm39) probably benign Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Atp8a1 T A 5: 67,969,416 (GRCm39) probably benign Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Casp12 T A 9: 5,345,534 (GRCm39) probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cdhr2 T A 13: 54,882,614 (GRCm39) probably benign Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cnnm1 C T 19: 43,430,349 (GRCm39) P489L probably damaging Het
Cntnap1 A T 11: 101,079,135 (GRCm39) D1175V probably damaging Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Crcp C A 5: 130,071,083 (GRCm39) Q61K possibly damaging Het
Crppa C T 12: 36,431,837 (GRCm39) A22V possibly damaging Het
Dcaf8 T A 1: 172,014,978 (GRCm39) D414E probably benign Het
Ddx28 T C 8: 106,736,877 (GRCm39) T394A probably benign Het
Ddx55 T C 5: 124,697,210 (GRCm39) F191L probably benign Het
Dnaaf1 T C 8: 120,322,756 (GRCm39) probably benign Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elf5 A G 2: 103,260,765 (GRCm39) probably benign Het
Emcn T A 3: 137,122,575 (GRCm39) probably benign Het
Erbb4 T C 1: 68,337,439 (GRCm39) probably benign Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Etfdh T C 3: 79,517,151 (GRCm39) I353V probably benign Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fbxl12 C T 9: 20,549,776 (GRCm39) G316D probably damaging Het
Gbf1 G A 19: 46,260,709 (GRCm39) probably null Het
Gbp2b T G 3: 142,313,937 (GRCm39) S406A probably benign Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gp1ba A G 11: 70,531,235 (GRCm39) probably benign Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Hectd4 T C 5: 121,397,927 (GRCm39) I285T probably benign Het
Hrh4 A G 18: 13,140,302 (GRCm39) probably benign Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Hspa13 A T 16: 75,562,018 (GRCm39) D60E probably damaging Het
Htt T A 5: 34,974,478 (GRCm39) probably benign Het
Iqca1l T C 5: 24,750,783 (GRCm39) probably null Het
Kif14 G C 1: 136,423,764 (GRCm39) probably benign Het
Kit T G 5: 75,813,489 (GRCm39) V888G probably damaging Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrriq4 T C 3: 30,709,873 (GRCm39) S406P probably benign Het
Man2c1 T C 9: 57,048,467 (GRCm39) V777A probably benign Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myo9a C G 9: 59,830,960 (GRCm39) T2368S probably damaging Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Npm3 A G 19: 45,737,965 (GRCm39) F11L probably benign Het
Nutf2 T A 8: 106,602,995 (GRCm39) S37T probably damaging Het
Obscn T A 11: 58,931,267 (GRCm39) I5790F probably damaging Het
Obscn A T 11: 58,943,332 (GRCm39) D4833E probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7d9 T A 9: 20,197,153 (GRCm39) S61T possibly damaging Het
Or8g35 T C 9: 39,381,852 (GRCm39) T57A possibly damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcdhb1 A G 18: 37,400,077 (GRCm39) D676G possibly damaging Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Pdk1 T C 2: 71,726,018 (GRCm39) probably benign Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Pidd1 A T 7: 141,019,474 (GRCm39) probably benign Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Pot1a A G 6: 25,778,830 (GRCm39) probably benign Het
Prdm5 T C 6: 65,839,887 (GRCm39) probably benign Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pyroxd1 A G 6: 142,307,702 (GRCm39) I491V probably benign Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Slc9b1 C T 3: 135,078,996 (GRCm39) R218* probably null Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stat4 A G 1: 52,130,029 (GRCm39) probably benign Het
Steap4 T C 5: 8,025,829 (GRCm39) V130A possibly damaging Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tgm4 T C 9: 122,877,622 (GRCm39) probably null Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Tmem145 A G 7: 25,008,099 (GRCm39) probably benign Het
Tsacc A G 3: 88,190,169 (GRCm39) S94P possibly damaging Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Ugt2b35 A G 5: 87,151,264 (GRCm39) K290R probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Usp10 T A 8: 120,663,296 (GRCm39) C39* probably null Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r7 C A 3: 64,598,439 (GRCm39) C797F probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Wdr27 A G 17: 15,154,721 (GRCm39) probably benign Het
Ythdc2 A G 18: 44,998,127 (GRCm39) probably benign Het
Zcwpw2 C A 9: 117,843,123 (GRCm39) noncoding transcript Het
Zdhhc1 C A 8: 106,210,175 (GRCm39) A81S probably benign Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably 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
IGL03233:Tshz3 APN 7 36,469,504 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers
Posted On 2013-08-08