Incidental Mutation 'R3904:Tshz2'
ID 309093
Institutional Source Beutler Lab
Gene Symbol Tshz2
Ensembl Gene ENSMUSG00000047907
Gene Name teashirt zinc finger family member 2
Synonyms Mtsh2, 2900073F20Rik, Zfp218, teashirt2, Tsh2, Sdccag33l
MMRRC Submission 040812-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3904 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 169474933-169913736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 169726307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 301 (Y301C)
Ref Sequence ENSEMBL: ENSMUSP00000104787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109157] [ENSMUST00000109159] [ENSMUST00000123300] [ENSMUST00000140699] [ENSMUST00000185239]
AlphaFold Q68FE9
Predicted Effect probably damaging
Transcript: ENSMUST00000109157
AA Change: Y301C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: Y301C

DomainStartEndE-ValueType
coiled coil region 11 42 N/A INTRINSIC
ZnF_C2H2 216 240 1.62e0 SMART
ZnF_C2H2 276 300 7.15e-2 SMART
ZnF_C2H2 381 405 4.94e0 SMART
low complexity region 460 478 N/A INTRINSIC
low complexity region 598 613 N/A INTRINSIC
low complexity region 647 667 N/A INTRINSIC
low complexity region 710 722 N/A INTRINSIC
HOX 836 910 3.43e-4 SMART
ZnF_C2H2 922 944 5.34e-1 SMART
ZnF_C2H2 990 1013 3.58e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109159
AA Change: Y301C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: Y301C

DomainStartEndE-ValueType
coiled coil region 11 42 N/A INTRINSIC
ZnF_C2H2 216 240 1.62e0 SMART
ZnF_C2H2 276 300 7.15e-2 SMART
ZnF_C2H2 381 405 4.94e0 SMART
low complexity region 460 478 N/A INTRINSIC
low complexity region 598 613 N/A INTRINSIC
low complexity region 647 667 N/A INTRINSIC
low complexity region 710 722 N/A INTRINSIC
HOX 836 910 3.43e-4 SMART
ZnF_C2H2 922 944 5.34e-1 SMART
ZnF_C2H2 990 1013 3.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123300
SMART Domains Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907

DomainStartEndE-ValueType
low complexity region 41 56 N/A INTRINSIC
low complexity region 90 110 N/A INTRINSIC
low complexity region 153 165 N/A INTRINSIC
HOX 279 353 1.7e-6 SMART
ZnF_C2H2 365 387 2.3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140699
SMART Domains Protein: ENSMUSP00000120013
Gene: ENSMUSG00000047907

DomainStartEndE-ValueType
HOX 43 117 1.7e-6 SMART
ZnF_C2H2 129 151 2.3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181446
Predicted Effect probably benign
Transcript: ENSMUST00000185239
SMART Domains Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907

DomainStartEndE-ValueType
low complexity region 129 144 N/A INTRINSIC
low complexity region 178 198 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
HOX 367 441 1.7e-6 SMART
ZnF_C2H2 453 475 2.3e-3 SMART
Meta Mutation Damage Score 0.3597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a transposon induced allele die in utero; cultured blastocysts fail to hatch. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,772,400 (GRCm39) I530L probably benign Het
5930422O12Rik T C 8: 33,919,467 (GRCm39) S96P probably damaging Het
Acot4 A G 12: 84,090,101 (GRCm39) probably null Het
Alms1 A G 6: 85,598,660 (GRCm39) D1631G probably benign Het
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Anapc1 A G 2: 128,484,439 (GRCm39) F1175S probably damaging Het
Ano4 A G 10: 88,860,867 (GRCm39) F337S probably damaging Het
Bub1 A C 2: 127,663,862 (GRCm39) I207S probably benign Het
Cfap53 T A 18: 74,440,445 (GRCm39) L405M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Esp3 A T 17: 40,946,820 (GRCm39) T48S possibly damaging Het
Fmo1 G T 1: 162,661,337 (GRCm39) N315K possibly damaging Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Impg1 A G 9: 80,252,867 (GRCm39) S438P possibly damaging Het
Jsrp1 T A 10: 80,648,246 (GRCm39) M1L probably benign Het
Klra14-ps T A 6: 130,129,512 (GRCm39) noncoding transcript Het
Mrm3 A G 11: 76,135,112 (GRCm39) M108V probably benign Het
Mtf2 T A 5: 108,228,866 (GRCm39) F61I probably damaging Het
Nat10 A T 2: 103,556,592 (GRCm39) probably benign Het
Or2y10 T C 11: 49,455,585 (GRCm39) I279T possibly damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Pcgf5 T C 19: 36,417,495 (GRCm39) I140T probably damaging Het
Pfpl T C 19: 12,407,801 (GRCm39) L684P probably benign Het
Psmd10 T C X: 139,850,052 (GRCm39) *152W probably null Het
Ptpn23 A C 9: 110,218,313 (GRCm39) M600R probably benign Het
Pxmp4 C T 2: 154,429,969 (GRCm39) R140H probably damaging Het
Rnf112 T C 11: 61,341,211 (GRCm39) E410G probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Shld2 A G 14: 33,981,666 (GRCm39) W491R probably damaging Het
Slc46a3 C T 5: 147,823,264 (GRCm39) E193K probably benign Het
Snap23 A C 2: 120,429,815 (GRCm39) D209A possibly damaging Het
Tg C T 15: 66,638,011 (GRCm39) Q656* probably null Het
Ttn T A 2: 76,670,638 (GRCm39) probably benign Het
Unc80 C T 1: 66,678,455 (GRCm39) Q2011* probably null Het
Vwa3a A G 7: 120,358,099 (GRCm39) T57A probably benign Het
Zfp518a C T 19: 40,903,364 (GRCm39) Q1098* probably null Het
Other mutations in Tshz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01901:Tshz2 APN 2 169,727,456 (GRCm39) missense possibly damaging 0.87
IGL01973:Tshz2 APN 2 169,726,603 (GRCm39) missense probably damaging 1.00
IGL02209:Tshz2 APN 2 169,726,684 (GRCm39) missense probably damaging 1.00
BB009:Tshz2 UTSW 2 169,728,251 (GRCm39) missense possibly damaging 0.95
BB019:Tshz2 UTSW 2 169,728,251 (GRCm39) missense possibly damaging 0.95
PIT4504001:Tshz2 UTSW 2 169,727,971 (GRCm39) missense probably damaging 1.00
R0084:Tshz2 UTSW 2 169,726,286 (GRCm39) missense probably damaging 1.00
R1757:Tshz2 UTSW 2 169,725,843 (GRCm39) missense probably benign
R1908:Tshz2 UTSW 2 169,727,465 (GRCm39) missense possibly damaging 0.95
R2082:Tshz2 UTSW 2 169,728,135 (GRCm39) missense probably damaging 1.00
R2256:Tshz2 UTSW 2 169,728,397 (GRCm39) missense probably damaging 1.00
R2259:Tshz2 UTSW 2 169,728,326 (GRCm39) missense probably benign 0.43
R2260:Tshz2 UTSW 2 169,728,326 (GRCm39) missense probably benign 0.43
R2444:Tshz2 UTSW 2 169,726,726 (GRCm39) missense probably benign
R3085:Tshz2 UTSW 2 169,725,871 (GRCm39) missense probably benign 0.10
R4021:Tshz2 UTSW 2 169,727,782 (GRCm39) missense probably damaging 1.00
R4061:Tshz2 UTSW 2 169,804,245 (GRCm39) intron probably benign
R4064:Tshz2 UTSW 2 169,804,245 (GRCm39) intron probably benign
R4113:Tshz2 UTSW 2 169,727,450 (GRCm39) missense probably benign 0.14
R4321:Tshz2 UTSW 2 169,727,465 (GRCm39) missense possibly damaging 0.95
R4355:Tshz2 UTSW 2 169,726,858 (GRCm39) missense possibly damaging 0.79
R4458:Tshz2 UTSW 2 169,727,008 (GRCm39) missense probably benign 0.29
R4779:Tshz2 UTSW 2 169,804,601 (GRCm39) intron probably benign
R4841:Tshz2 UTSW 2 169,728,167 (GRCm39) missense probably damaging 0.98
R4945:Tshz2 UTSW 2 169,725,794 (GRCm39) missense probably damaging 1.00
R5073:Tshz2 UTSW 2 169,804,493 (GRCm39) intron probably benign
R5110:Tshz2 UTSW 2 169,726,117 (GRCm39) missense possibly damaging 0.48
R5404:Tshz2 UTSW 2 169,726,240 (GRCm39) missense probably benign 0.02
R5425:Tshz2 UTSW 2 169,725,944 (GRCm39) missense probably damaging 1.00
R5473:Tshz2 UTSW 2 169,725,718 (GRCm39) missense probably benign
R5587:Tshz2 UTSW 2 169,726,262 (GRCm39) missense probably damaging 1.00
R5832:Tshz2 UTSW 2 169,725,965 (GRCm39) missense possibly damaging 0.56
R6351:Tshz2 UTSW 2 169,726,888 (GRCm39) missense probably benign 0.16
R6375:Tshz2 UTSW 2 169,727,939 (GRCm39) missense probably damaging 1.00
R6478:Tshz2 UTSW 2 169,726,584 (GRCm39) missense probably damaging 1.00
R6675:Tshz2 UTSW 2 169,727,965 (GRCm39) missense probably damaging 1.00
R6742:Tshz2 UTSW 2 169,725,677 (GRCm39) missense probably damaging 1.00
R7398:Tshz2 UTSW 2 169,726,094 (GRCm39) missense probably damaging 1.00
R7722:Tshz2 UTSW 2 169,727,192 (GRCm39) missense probably benign
R7932:Tshz2 UTSW 2 169,728,251 (GRCm39) missense possibly damaging 0.95
R8166:Tshz2 UTSW 2 169,725,575 (GRCm39) missense probably benign 0.07
R8721:Tshz2 UTSW 2 169,727,278 (GRCm39) missense probably benign 0.00
R8855:Tshz2 UTSW 2 169,728,425 (GRCm39) missense probably damaging 1.00
R8962:Tshz2 UTSW 2 169,726,524 (GRCm39) missense probably damaging 1.00
R9163:Tshz2 UTSW 2 169,726,562 (GRCm39) missense probably damaging 1.00
R9376:Tshz2 UTSW 2 169,726,013 (GRCm39) missense probably benign 0.06
R9501:Tshz2 UTSW 2 169,725,759 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- CGAGACAGGCCACTATCAAG -3'
(R):5'- AAGATCTGGGACTTGCAGGC -3'

Sequencing Primer
(F):5'- GAGACAGGCCACTATCAAGATGAC -3'
(R):5'- TCGAACTGCCAGGTGTAGCTG -3'
Posted On 2015-04-17