Incidental Mutation 'R5404:Tshz2'
ID 428616
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 042975-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5404 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 169474933-169913736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 169726240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 279 (M279L)
Ref Sequence ENSEMBL: ENSMUSP00000104787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109157] [ENSMUST00000109159] [ENSMUST00000123300] [ENSMUST00000140699] [ENSMUST00000185239]
AlphaFold Q68FE9
Predicted Effect probably benign
Transcript: ENSMUST00000109157
AA Change: M279L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: M279L

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: ENSMUST00000109159
AA Change: M279L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: M279L

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,545 (GRCm39) H297R probably benign Het
Ccnk A T 12: 108,161,882 (GRCm39) K262N possibly damaging Het
Clec4b2 A T 6: 123,158,308 (GRCm39) Y58F probably benign Het
Cp A C 3: 20,043,292 (GRCm39) T1027P possibly damaging Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Cry1 T C 10: 85,020,283 (GRCm39) N18S probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock10 A G 1: 80,481,630 (GRCm39) probably benign Het
Fance A T 17: 28,537,034 (GRCm39) R58W probably null Het
Fermt1 T C 2: 132,776,789 (GRCm39) D233G possibly damaging Het
Gabpa T A 16: 84,657,351 (GRCm39) Y409N probably damaging Het
Gpr162 A G 6: 124,838,606 (GRCm39) S15P possibly damaging Het
Grid2 T A 6: 63,907,894 (GRCm39) I178N probably damaging Het
Il17re T C 6: 113,446,063 (GRCm39) V233A probably benign Het
Lemd3 G A 10: 120,767,863 (GRCm39) Q672* probably null Het
Myh15 A G 16: 48,980,341 (GRCm39) T1488A probably benign Het
Narf T A 11: 121,133,452 (GRCm39) H84Q probably benign Het
Nedd1 C T 10: 92,552,054 (GRCm39) V69I probably benign Het
Nfil3 G A 13: 53,122,091 (GRCm39) S271F probably damaging Het
Npc1 A G 18: 12,346,356 (GRCm39) L280P possibly damaging Het
Or2n1e T A 17: 38,586,517 (GRCm39) L285* probably null Het
Or4p20 C T 2: 88,254,145 (GRCm39) V75M probably damaging Het
Or51a25 T A 7: 102,372,807 (GRCm39) I297F possibly damaging Het
Poli A G 18: 70,642,503 (GRCm39) S503P probably benign Het
Rbm5 T C 9: 107,642,752 (GRCm39) E94G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rps6ka5 T C 12: 100,582,352 (GRCm39) I173M probably damaging Het
Slc40a1 A G 1: 45,951,488 (GRCm39) L223P probably damaging Het
Smg1 T C 7: 117,806,131 (GRCm39) K213E probably damaging Het
Spem1 T A 11: 69,711,763 (GRCm39) K300N probably damaging Het
Tchh A G 3: 93,354,982 (GRCm39) E1474G unknown Het
Tenm4 A T 7: 96,543,887 (GRCm39) R1968W probably damaging Het
Tuba3a G T 6: 125,258,555 (GRCm39) T145K 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
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'- AGAGCAGTAAGTTGTGTGGCTC -3'
(R):5'- AATCTGCAAGGGACCCTGTG -3'

Sequencing Primer
(F):5'- AGCAGGTTCCGCTGCAG -3'
(R):5'- ACCCTGTGGTGGAGTCAG -3'
Posted On 2016-09-06