Incidental Mutation 'R7225:Tshz3'
ID 562094
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 045297-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7225 (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 36469082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 357 (N357S)
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: N357S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: N357S

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,299 (GRCm39) probably benign Het
5730480H06Rik T A 5: 48,537,575 (GRCm39) probably null Het
Actn4 A T 7: 28,598,124 (GRCm39) V492D probably damaging Het
Alpk2 T C 18: 65,438,270 (GRCm39) E1041G probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cd22 C T 7: 30,577,059 (GRCm39) A83T not run Het
Cdan1 T C 2: 120,555,393 (GRCm39) T783A probably benign Het
Cdh9 C T 15: 16,856,159 (GRCm39) S733F probably damaging Het
Cfap54 A G 10: 92,740,236 (GRCm39) F2282S unknown Het
Chst9 T C 18: 15,585,718 (GRCm39) K282E probably damaging Het
Clcn1 G A 6: 42,270,396 (GRCm39) D232N probably damaging Het
Clpb T A 7: 101,360,672 (GRCm39) L234Q probably damaging Het
Cluh T G 11: 74,557,232 (GRCm39) probably null Het
Cnp C T 11: 100,471,413 (GRCm39) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Dtx3 C T 10: 127,027,358 (GRCm39) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm39) I1156T probably benign Het
Epg5 T A 18: 78,055,917 (GRCm39) V1697E probably benign Het
Exoc3l4 A G 12: 111,390,058 (GRCm39) D211G probably benign Het
Fank1 A G 7: 133,454,988 (GRCm39) K36R probably benign Het
Fat4 T C 3: 39,034,325 (GRCm39) I2659T possibly damaging Het
Fer1l5 T C 1: 36,460,033 (GRCm39) W1893R possibly damaging Het
Gorasp2 T A 2: 70,514,391 (GRCm39) L256Q probably damaging Het
Gpc5 T G 14: 115,789,710 (GRCm39) V528G probably damaging Het
Gria2 T A 3: 80,709,938 (GRCm39) probably benign Het
Htatip2 A G 7: 49,420,604 (GRCm39) E150G possibly damaging Het
Jak3 C A 8: 72,138,155 (GRCm39) Q869K probably benign Het
Jmjd1c T C 10: 67,061,844 (GRCm39) V1218A probably benign Het
Kcnf1 A G 12: 17,225,694 (GRCm39) C176R possibly damaging Het
Kcnq4 A G 4: 120,604,111 (GRCm39) V88A probably benign Het
Lmod3 T A 6: 97,224,345 (GRCm39) D492V probably benign Het
Lurap1l A C 4: 80,829,718 (GRCm39) S43R probably benign Het
Mamdc4 T C 2: 25,455,558 (GRCm39) H890R possibly damaging Het
Mertk T G 2: 128,643,482 (GRCm39) N960K possibly damaging Het
Nudt9 C A 5: 104,212,966 (GRCm39) D346E probably benign Het
Obi1 T C 14: 104,717,294 (GRCm39) T360A probably benign Het
Opa1 A G 16: 29,432,857 (GRCm39) probably null Het
Or5an1 A T 19: 12,260,831 (GRCm39) T140S probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Paxbp1 T C 16: 90,823,956 (GRCm39) E564G probably damaging Het
Pcdhb13 C T 18: 37,577,490 (GRCm39) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,410,337 (GRCm39) V2615F probably damaging Het
Plin3 T C 17: 56,593,541 (GRCm39) T58A possibly damaging Het
Por A G 5: 135,761,441 (GRCm39) D309G probably benign Het
Ppp2r5e T C 12: 75,515,353 (GRCm39) K261R probably damaging Het
Ptpn18 C T 1: 34,511,927 (GRCm39) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,928 (GRCm39) G1006E possibly damaging Het
Rpl12 C T 2: 32,851,909 (GRCm39) probably benign Het
Rpsa T G 9: 119,960,222 (GRCm39) F262V probably benign Het
Sh3pxd2a G T 19: 47,255,828 (GRCm39) N991K probably damaging Het
Shank2 T A 7: 143,838,762 (GRCm39) N19K probably benign Het
Sik1 T C 17: 32,073,274 (GRCm39) T61A probably benign Het
Sipa1l3 A C 7: 29,098,853 (GRCm39) V472G probably damaging Het
Sirt6 A G 10: 81,458,315 (GRCm39) S313P probably benign Het
Slc12a7 A G 13: 73,912,081 (GRCm39) probably benign Het
Sox13 A T 1: 133,314,862 (GRCm39) V266E probably benign Het
Spag9 T C 11: 93,988,184 (GRCm39) C833R probably damaging Het
Tcof1 T C 18: 60,961,520 (GRCm39) T812A unknown Het
Tnfsf4 A G 1: 161,244,821 (GRCm39) D170G possibly damaging Het
Txk C T 5: 72,858,057 (GRCm39) D418N probably damaging Het
Ube2j2 A G 4: 156,033,773 (GRCm39) probably null Het
Vmn2r84 G A 10: 130,222,552 (GRCm39) P556L probably damaging Het
Zfp1007 T C 5: 109,825,015 (GRCm39) H145R possibly damaging Het
Zfp442 T C 2: 150,250,925 (GRCm39) N326D 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
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
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'- ACTGTGGCCACTCCTTTGAG -3'
(R):5'- CTTGATAAAGTGGCCAGTGACC -3'

Sequencing Primer
(F):5'- GACCTGAGCGTCCATATGATC -3'
(R):5'- ACCATCATGTGAGCTGTGAGC -3'
Posted On 2019-06-26