Incidental Mutation 'R7105:Tshz3'
ID 551110
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 045197-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7105 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 36397543-36472978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36469181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 390 (E390G)
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: E390G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: E390G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (65/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,347,842 (GRCm39) I3565N probably damaging Het
Adam8 T C 7: 139,569,968 (GRCm39) E99G probably benign Het
Adnp2 A C 18: 80,171,366 (GRCm39) H1014Q possibly damaging Het
Agbl4 T A 4: 111,423,920 (GRCm39) N315K probably benign Het
Ankrd33b G T 15: 31,305,214 (GRCm39) N183K probably damaging Het
Arhgef39 A G 4: 43,498,913 (GRCm39) S113P possibly damaging Het
Bdp1 G A 13: 100,206,689 (GRCm39) P618S probably damaging Het
Bhlhe40 C T 6: 108,641,997 (GRCm39) P314S possibly damaging Het
Birc2 A C 9: 7,819,442 (GRCm39) I490S probably damaging Het
Blm T C 7: 80,149,516 (GRCm39) I698V probably benign Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
Car12 A G 9: 66,659,688 (GRCm39) T238A probably damaging Het
Cend1 G A 7: 141,007,565 (GRCm39) P85L probably benign Het
Cftr A T 6: 18,318,971 (GRCm39) D1337V probably damaging Het
Chsy3 T A 18: 59,309,491 (GRCm39) M248K probably damaging Het
Chtf8 A G 8: 107,611,883 (GRCm39) F352S probably damaging Het
Cimip4 T A 15: 78,270,318 (GRCm39) D150V possibly damaging Het
Csf2ra T C 19: 61,213,458 (GRCm39) D384G possibly damaging Het
Ctnnbip1 T C 4: 149,630,937 (GRCm39) S59P probably benign Het
Cyth3 A G 5: 143,693,027 (GRCm39) N312D probably benign Het
Dtnb T C 12: 3,698,391 (GRCm39) probably null Het
Duox2 A G 2: 122,120,033 (GRCm39) S826P possibly damaging Het
Enthd1 C T 15: 80,393,410 (GRCm39) A273T probably benign Het
Gm3138 T C 14: 15,632,304 (GRCm39) V159A possibly damaging Het
Hhip T C 8: 80,701,638 (GRCm39) D632G probably benign Het
Igfn1 A T 1: 135,911,956 (GRCm39) C114S probably benign Het
Islr2 T C 9: 58,105,097 (GRCm39) D765G probably damaging Het
Klf14 TCCCC TCCC 6: 30,935,476 (GRCm39) probably null Het
Mapk12 G A 15: 89,015,361 (GRCm39) P362L probably benign Het
Msi1 T G 5: 115,571,929 (GRCm39) F96V probably damaging Het
Mthfd1l T C 10: 4,053,261 (GRCm39) V870A probably benign Het
Nfat5 T C 8: 108,095,823 (GRCm39) S1355P possibly damaging Het
Oplah T C 15: 76,181,887 (GRCm39) N1079D probably damaging Het
Or2ah1 G T 2: 85,654,224 (GRCm39) R303M probably benign Het
Osbpl1a T A 18: 12,900,020 (GRCm39) I645F probably benign Het
Pank4 T C 4: 155,064,624 (GRCm39) S728P probably benign Het
Parp2 TTGCCATAAGTGCTAAATGAAGCC T 14: 51,047,521 (GRCm39) probably null Het
Piezo1 A G 8: 123,208,857 (GRCm39) I2503T unknown Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhs1 T A 19: 56,465,647 (GRCm39) F204Y probably damaging Het
Pramel26 T C 4: 143,537,341 (GRCm39) N330S probably benign Het
Pramel32 G A 4: 88,548,339 (GRCm39) S22F probably damaging Het
Prep T A 10: 45,002,159 (GRCm39) I438N probably benign Het
Prss58 T C 6: 40,874,700 (GRCm39) H47R probably damaging Het
Rad51ap2 T G 12: 11,508,278 (GRCm39) D733E possibly damaging Het
Robo1 A T 16: 72,539,049 (GRCm39) I31F probably damaging Het
Setd2 A G 9: 110,377,328 (GRCm39) Y381C probably damaging Het
Slc47a2 A G 11: 61,233,269 (GRCm39) V87A probably benign Het
Slc5a9 T C 4: 111,755,892 (GRCm39) N2S probably benign Het
Spata13 A G 14: 60,991,319 (GRCm39) D1024G probably damaging Het
Stat1 T G 1: 52,190,408 (GRCm39) N554K probably benign Het
Suclg2 T C 6: 95,572,635 (GRCm39) D110G possibly damaging Het
Sult1c2 T A 17: 54,280,917 (GRCm39) probably null Het
Taf5l A G 8: 124,729,951 (GRCm39) I246T probably damaging Het
Tcof1 A T 18: 60,976,368 (GRCm39) D80E probably damaging Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Ttn T C 2: 76,560,610 (GRCm39) T29264A possibly damaging Het
Ubr5 T C 15: 38,009,019 (GRCm39) T1065A Het
Vcp A G 4: 42,985,991 (GRCm39) V341A probably damaging Het
Vmn1r176 A T 7: 23,534,748 (GRCm39) L135* probably null Het
Vmn1r57 T A 7: 5,223,499 (GRCm39) I8N probably damaging Het
Ythdc2 C T 18: 44,967,630 (GRCm39) P209S probably damaging Het
Zfp213 A T 17: 23,777,178 (GRCm39) V288D probably benign Het
Zfp362 T C 4: 128,668,319 (GRCm39) I418V probably damaging Het
Zfp707 C A 15: 75,846,595 (GRCm39) T215K Het
Zfp957 G C 14: 79,450,402 (GRCm39) R466G probably benign 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
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
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 PCR Primer
(F):5'- AACCTTCTCTGGAGCTGGAG -3'
(R):5'- TTGGGTTTCTCATCCGGGAC -3'

Sequencing Primer
(F):5'- GCTGCCTAGCTCCCCTG -3'
(R):5'- AGACACTCGCGGGCGTATTG -3'
Posted On 2019-05-15