Incidental Mutation 'R5516:Tshz3'
ID 431285
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 043075-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5516 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 36397543-36472978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36469775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 588 (T588I)
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: T588I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: T588I

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: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.4%
Validation Efficiency 97% (58/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,306,901 (GRCm39) K334R probably damaging Het
Aldh1l1 A T 6: 90,573,927 (GRCm39) I809F possibly damaging Het
Bmp2k T A 5: 97,235,312 (GRCm39) probably benign Het
C1qtnf9 T A 14: 61,017,198 (GRCm39) C243S probably damaging Het
Cacna1c G A 6: 119,034,179 (GRCm39) A146V probably damaging Het
Ccdc85c A G 12: 108,174,109 (GRCm39) V353A probably damaging Het
Cd300ld2 G T 11: 114,903,270 (GRCm39) probably benign Het
Cd320 A G 17: 34,067,021 (GRCm39) Q170R possibly damaging Het
Cfap43 C T 19: 47,726,648 (GRCm39) probably null Het
Chid1 A G 7: 141,076,059 (GRCm39) S365P probably damaging Het
Chrna7 T G 7: 62,749,046 (GRCm39) T479P probably damaging Het
Clasp1 G T 1: 118,425,451 (GRCm39) R35L probably damaging Het
Cluh G A 11: 74,551,270 (GRCm39) R373H probably damaging Het
Cyp2b23 G A 7: 26,372,482 (GRCm39) R378* probably null Het
Cyp2d9 T G 15: 82,338,528 (GRCm39) N136K probably null Het
Efcab5 A T 11: 77,079,615 (GRCm39) S44T possibly damaging Het
Esrrg A T 1: 187,930,927 (GRCm39) L316F possibly damaging Het
Fam222a T C 5: 114,749,889 (GRCm39) Y362H probably damaging Het
Fat3 A G 9: 15,910,005 (GRCm39) V1999A probably damaging Het
Fes A T 7: 80,036,931 (GRCm39) M51K probably damaging Het
Fmo3 T A 1: 162,781,995 (GRCm39) K453* probably null Het
Galnt1 A G 18: 24,413,074 (GRCm39) N458S probably benign Het
Gm8888 T A 15: 96,664,855 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,312,190 (GRCm39) probably null Het
Grm4 G A 17: 27,657,385 (GRCm39) T464I probably benign Het
Insr T A 8: 3,205,764 (GRCm39) K1342* probably null Het
Krt87 T A 15: 101,385,002 (GRCm39) K365* probably null Het
Lfng T C 5: 140,599,018 (GRCm39) L309P probably damaging Het
Lnpk T C 2: 74,378,132 (GRCm39) probably benign Het
Lrrc8e A C 8: 4,285,818 (GRCm39) D681A probably damaging Het
Lyst G A 13: 13,818,707 (GRCm39) D1326N probably benign Het
Mmp27 A G 9: 7,579,063 (GRCm39) R413G probably null Het
Nags C T 11: 102,036,773 (GRCm39) Q121* probably null Het
Nectin1 A G 9: 43,715,090 (GRCm39) E442G probably benign Het
Nek1 G C 8: 61,542,523 (GRCm39) A729P probably benign Het
Or51a24 A G 7: 103,733,444 (GRCm39) I281T possibly damaging Het
Pnp2 C T 14: 51,201,195 (GRCm39) A189V probably benign Het
Ppm1m T A 9: 106,075,138 (GRCm39) I136F probably damaging Het
Pramel21 A G 4: 143,342,253 (GRCm39) Q120R possibly damaging Het
Psg17 G T 7: 18,548,458 (GRCm39) Q438K probably benign Het
Ptprk C T 10: 28,372,926 (GRCm39) R726* probably null Het
Rab3gap2 A T 1: 184,967,684 (GRCm39) Y163F probably benign Het
Scrib A T 15: 75,934,712 (GRCm39) L627Q possibly damaging Het
Tcp1 A G 17: 13,143,221 (GRCm39) K510R probably damaging Het
Tle4 A T 19: 14,432,253 (GRCm39) I481N probably damaging Het
Tmem43 G T 6: 91,455,192 (GRCm39) R56L possibly damaging Het
Trmt10a T C 3: 137,857,957 (GRCm39) I168T possibly damaging Het
Trpv1 A T 11: 73,136,809 (GRCm39) Y96F probably benign Het
Ugt2b38 A G 5: 87,559,702 (GRCm39) F397L probably damaging Het
Vmn2r11 A G 5: 109,195,032 (GRCm39) S765P probably damaging Het
Zfp668 A G 7: 127,466,318 (GRCm39) F289L probably damaging Het
Zfp735 A G 11: 73,601,640 (GRCm39) T195A probably benign Het
Zscan10 A G 17: 23,828,333 (GRCm39) T182A 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
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
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 PCR Primer
(F):5'- CTGCCATCAACAAGGCTCAG -3'
(R):5'- GACTTTTGAAGCTGCCGTC -3'

Sequencing Primer
(F):5'- AGGCTCAGAATGGCACTCC -3'
(R):5'- AGGCCTCCATCTTGATGGG -3'
Posted On 2016-10-05