Incidental Mutation 'R5587:Tshz2'
ID 438797
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 043141-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 169474933-169913736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 169726262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 286 (D286V)
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: D286V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: D286V

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: D286V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: D286V

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 0.2388 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,170 (GRCm39) R120G probably benign Het
Acad11 A G 9: 103,940,966 (GRCm39) T3A probably benign Het
Adamts18 G A 8: 114,501,992 (GRCm39) Q290* probably null Het
Ahnak A G 19: 8,986,840 (GRCm39) D2708G possibly damaging Het
Asxl3 T A 18: 22,658,304 (GRCm39) C2105S probably benign Het
Atp8b1 A T 18: 64,672,281 (GRCm39) F1028I probably damaging Het
Axdnd1 C G 1: 156,178,982 (GRCm39) W615C probably damaging Het
Bcl3 A T 7: 19,543,559 (GRCm39) Y10* probably null Het
Bmp2 T A 2: 133,396,566 (GRCm39) V74E possibly damaging Het
Ccdc121 G T 5: 31,643,428 (GRCm39) G53W probably benign Het
Ccdc78 C A 17: 26,005,651 (GRCm39) P21Q probably benign Het
Cluap1 T A 16: 3,733,348 (GRCm39) V199E probably damaging Het
Cntnap3 T C 13: 64,894,552 (GRCm39) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm39) W1330R unknown Het
Coq4 A G 2: 29,685,526 (GRCm39) probably null Het
Cwf19l1 G A 19: 44,109,316 (GRCm39) T346I possibly damaging Het
Cyct T C 2: 76,184,547 (GRCm39) Y68C probably damaging Het
Dnah10 T C 5: 124,870,977 (GRCm39) L2368P probably benign Het
Dnah2 A T 11: 69,328,068 (GRCm39) F3346I probably damaging Het
Dpp3 A T 19: 4,968,295 (GRCm39) V259E probably damaging Het
Dpyd A C 3: 118,858,600 (GRCm39) S605R probably damaging Het
Emc1 A G 4: 139,089,459 (GRCm39) E209G probably damaging Het
Esrra A G 19: 6,897,575 (GRCm39) S61P probably benign Het
Garin2 C A 12: 78,761,849 (GRCm39) P171H probably damaging Het
Gbx2 T A 1: 89,860,844 (GRCm39) probably benign Het
Hepacam A G 9: 37,295,980 (GRCm39) H377R probably damaging Het
Igkv12-46 T C 6: 69,741,534 (GRCm39) Y107C probably damaging Het
Intu A G 3: 40,629,738 (GRCm39) D356G probably damaging Het
Izumo4 A T 10: 80,539,054 (GRCm39) N113Y probably damaging Het
Krt86 G A 15: 101,371,474 (GRCm39) A15T probably benign Het
Lhx8 A T 3: 154,017,316 (GRCm39) S275R probably damaging Het
Lingo3 A T 10: 80,671,364 (GRCm39) S189T probably damaging Het
Llgl1 T A 11: 60,601,168 (GRCm39) M702K probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrit3 G T 3: 129,582,547 (GRCm39) A359E probably benign Het
Lrp2 T C 2: 69,329,607 (GRCm39) E1720G probably benign Het
Mcub A C 3: 129,710,619 (GRCm39) V271G probably benign Het
Nktr C T 9: 121,577,555 (GRCm39) probably benign Het
Or10g9 A T 9: 39,911,917 (GRCm39) I202N possibly damaging Het
Or13p4 T A 4: 118,547,067 (GRCm39) D194V probably damaging Het
Or1j18 A T 2: 36,624,633 (GRCm39) Q100L probably damaging Het
Or4d5 A T 9: 40,012,540 (GRCm39) L82Q probably damaging Het
Or52z12 T A 7: 103,233,738 (GRCm39) Y170N probably benign Het
Or9i1 G A 19: 13,839,940 (GRCm39) R261H probably damaging Het
Pcdha4 T C 18: 37,087,875 (GRCm39) V686A probably benign Het
Pelo A G 13: 115,226,409 (GRCm39) V16A possibly damaging Het
Plcd1 A G 9: 118,902,900 (GRCm39) S539P probably benign Het
Prss1 A G 6: 41,440,199 (GRCm39) I179V possibly damaging Het
Ptgs2 T C 1: 149,981,306 (GRCm39) Y530H probably damaging Het
Rai1 T C 11: 60,080,685 (GRCm39) V1583A probably damaging Het
Raph1 T G 1: 60,537,632 (GRCm39) D508A probably damaging Het
Rmnd5a A G 6: 71,371,603 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,328 (GRCm39) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm39) I1323M possibly damaging Het
Scn1a T C 2: 66,103,425 (GRCm39) N1934S probably benign Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sh3glb2 A G 2: 30,244,863 (GRCm39) probably null Het
Sis A G 3: 72,821,909 (GRCm39) I1384T possibly damaging Het
Spata31d1a A C 13: 59,850,432 (GRCm39) C565W probably damaging Het
Srbd1 T A 17: 86,435,229 (GRCm39) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm39) H345R unknown Het
Suox A T 10: 128,507,694 (GRCm39) D111E probably damaging Het
Taar7a A T 10: 23,868,726 (GRCm39) F218L probably benign Het
Tfcp2l1 C A 1: 118,592,492 (GRCm39) N288K possibly damaging Het
Tmem128 G T 5: 38,417,765 (GRCm39) R7L possibly damaging Het
Tmem266 A G 9: 55,344,850 (GRCm39) N494S probably damaging Het
Tmprss3 T A 17: 31,412,966 (GRCm39) H80L probably benign Het
Tnrc6c C T 11: 117,640,097 (GRCm39) Q1211* probably null Het
Tns1 T A 1: 73,959,755 (GRCm39) D1671V possibly damaging Het
Trmt1l T A 1: 151,311,455 (GRCm39) probably benign Het
Ttyh2 A G 11: 114,566,485 (GRCm39) E39G probably benign Het
Vmn2r125 G A 4: 156,702,433 (GRCm39) C73Y probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r61 T C 7: 41,949,911 (GRCm39) F777S probably damaging Het
Vmn2r9 T C 5: 108,995,427 (GRCm39) E407G probably damaging Het
Vwa3a A G 7: 120,379,458 (GRCm39) N521S probably damaging Het
Zan C G 5: 137,390,024 (GRCm39) S4816T unknown Het
Zc3h7b T C 15: 81,656,059 (GRCm39) Y136H possibly damaging Het
Zfp101 T C 17: 33,600,295 (GRCm39) K487R possibly damaging 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
R3904:Tshz2 UTSW 2 169,726,307 (GRCm39) missense probably damaging 1.00
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
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'- CAGAGCAGTAAGTTGTGTGGC -3'
(R):5'- AAGGAATCTGCAAGGGACCC -3'

Sequencing Primer
(F):5'- GACACTCTCGTGGAGCTGAC -3'
(R):5'- AATCTGCAAGGGACCCTGTGG -3'
Posted On 2016-10-26