Incidental Mutation 'R4028:Tshz1'
ID 313111
Institutional Source Beutler Lab
Gene Symbol Tshz1
Ensembl Gene ENSMUSG00000046982
Gene Name teashirt zinc finger family member 1
Synonyms Tsh1, teashirt1, D18Bwg1409e, Mtsh1, NY-CO-33, Sdccag33, 5730407I04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4028 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 84029752-84105831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84032954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 485 (K485E)
Ref Sequence ENSEMBL: ENSMUSP00000089388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060303]
AlphaFold Q5DTH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000060303
AA Change: K485E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: K485E

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 153 195 N/A INTRINSIC
ZnF_C2H2 246 270 1.86e0 SMART
ZnF_C2H2 307 331 3.83e-2 SMART
ZnF_C2H2 416 440 5.34e0 SMART
low complexity region 497 515 N/A INTRINSIC
HOX 890 964 4.15e-4 SMART
ZnF_C2H2 976 998 4.34e-1 SMART
ZnF_C2H2 1044 1067 4.47e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175783
SMART Domains Protein: ENSMUSP00000135640
Gene: ENSMUSG00000046982

DomainStartEndE-ValueType
ZnF_C2H2 43 67 1.7e-4 SMART
ZnF_C2H2 152 176 2.3e-2 SMART
low complexity region 233 251 N/A INTRINSIC
HOX 626 700 2.1e-6 SMART
ZnF_C2H2 712 734 1.9e-3 SMART
ZnF_C2H2 780 803 1.8e-5 SMART
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,531,725 (GRCm39) N503K probably damaging Het
Anapc2 T A 2: 25,167,750 (GRCm39) I439N probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Birc2 T C 9: 7,819,352 (GRCm39) N520S probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Clec1b G A 6: 129,378,774 (GRCm39) R87H probably benign Het
Cox7a2l A G 17: 83,810,069 (GRCm39) I123T probably benign Het
Cyp2j5 A T 4: 96,529,653 (GRCm39) Y239* probably null Het
Dnajc6 G A 4: 101,474,054 (GRCm39) C485Y probably damaging Het
Dync1i1 C T 6: 5,961,842 (GRCm39) S341F probably damaging Het
Fbln1 A G 15: 85,111,317 (GRCm39) N157S probably benign Het
Get1 T C 16: 95,946,784 (GRCm39) probably null Het
Gpatch2 A G 1: 186,958,337 (GRCm39) S231G possibly damaging Het
Grin2b T C 6: 135,713,433 (GRCm39) D816G probably damaging Het
Kndc1 T A 7: 139,509,941 (GRCm39) F1261Y probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Ntrk3 T C 7: 77,842,458 (GRCm39) E790G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4c3 T C 2: 89,851,567 (GRCm39) N281S probably damaging Het
Or52k2 A T 7: 102,254,500 (GRCm39) D313V possibly damaging Het
Pibf1 A G 14: 99,416,777 (GRCm39) E450G probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pkdrej A T 15: 85,701,693 (GRCm39) N1414K probably benign Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slc28a3 T C 13: 58,758,570 (GRCm39) S18G probably benign Het
Slc7a1 C A 5: 148,282,622 (GRCm39) C75F probably benign Het
Snrnp200 A G 2: 127,079,486 (GRCm39) D1865G probably damaging Het
Tnrc6a T A 7: 122,769,344 (GRCm39) I378N probably damaging Het
Trim3 A G 7: 105,267,452 (GRCm39) V309A probably benign Het
Zdhhc11 T C 13: 74,125,390 (GRCm39) L210P probably damaging Het
Other mutations in Tshz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Tshz1 APN 18 84,031,634 (GRCm39) missense possibly damaging 0.94
IGL02934:Tshz1 APN 18 84,031,215 (GRCm39) missense probably damaging 1.00
ANU18:Tshz1 UTSW 18 84,032,786 (GRCm39) missense probably damaging 1.00
PIT4810001:Tshz1 UTSW 18 84,031,375 (GRCm39) missense possibly damaging 0.85
R0052:Tshz1 UTSW 18 84,033,070 (GRCm39) missense possibly damaging 0.76
R0052:Tshz1 UTSW 18 84,033,070 (GRCm39) missense possibly damaging 0.76
R0364:Tshz1 UTSW 18 84,034,249 (GRCm39) missense probably benign 0.31
R0391:Tshz1 UTSW 18 84,034,174 (GRCm39) missense possibly damaging 0.93
R0515:Tshz1 UTSW 18 84,034,090 (GRCm39) missense probably benign
R0942:Tshz1 UTSW 18 84,031,178 (GRCm39) missense probably damaging 0.99
R0943:Tshz1 UTSW 18 84,033,356 (GRCm39) missense probably benign 0.04
R1472:Tshz1 UTSW 18 84,031,930 (GRCm39) missense possibly damaging 0.93
R1895:Tshz1 UTSW 18 84,031,558 (GRCm39) missense probably damaging 1.00
R2022:Tshz1 UTSW 18 84,031,987 (GRCm39) missense probably damaging 0.98
R2860:Tshz1 UTSW 18 84,033,105 (GRCm39) missense probably damaging 1.00
R2861:Tshz1 UTSW 18 84,033,105 (GRCm39) missense probably damaging 1.00
R4027:Tshz1 UTSW 18 84,032,954 (GRCm39) missense possibly damaging 0.74
R4030:Tshz1 UTSW 18 84,032,954 (GRCm39) missense possibly damaging 0.74
R4031:Tshz1 UTSW 18 84,032,954 (GRCm39) missense possibly damaging 0.74
R4119:Tshz1 UTSW 18 84,032,314 (GRCm39) missense probably benign 0.00
R4233:Tshz1 UTSW 18 84,034,320 (GRCm39) missense probably benign 0.00
R4573:Tshz1 UTSW 18 84,033,207 (GRCm39) missense probably damaging 1.00
R4604:Tshz1 UTSW 18 84,031,499 (GRCm39) missense probably damaging 1.00
R4960:Tshz1 UTSW 18 84,032,987 (GRCm39) missense probably benign 0.08
R5085:Tshz1 UTSW 18 84,032,053 (GRCm39) missense probably benign 0.01
R5124:Tshz1 UTSW 18 84,033,592 (GRCm39) missense probably damaging 1.00
R5150:Tshz1 UTSW 18 84,031,340 (GRCm39) nonsense probably null
R5357:Tshz1 UTSW 18 84,033,205 (GRCm39) missense probably damaging 1.00
R5530:Tshz1 UTSW 18 84,031,393 (GRCm39) missense probably damaging 1.00
R5718:Tshz1 UTSW 18 84,032,649 (GRCm39) missense probably damaging 1.00
R5750:Tshz1 UTSW 18 84,032,086 (GRCm39) missense possibly damaging 0.93
R5778:Tshz1 UTSW 18 84,033,805 (GRCm39) missense probably damaging 1.00
R6052:Tshz1 UTSW 18 84,032,194 (GRCm39) missense probably damaging 1.00
R6279:Tshz1 UTSW 18 84,033,436 (GRCm39) missense probably damaging 1.00
R6393:Tshz1 UTSW 18 84,031,345 (GRCm39) missense probably damaging 1.00
R6407:Tshz1 UTSW 18 84,034,091 (GRCm39) missense possibly damaging 0.55
R6425:Tshz1 UTSW 18 84,033,688 (GRCm39) missense probably damaging 0.99
R6998:Tshz1 UTSW 18 84,033,966 (GRCm39) missense probably benign 0.00
R7165:Tshz1 UTSW 18 84,034,052 (GRCm39) missense probably damaging 1.00
R7233:Tshz1 UTSW 18 84,032,944 (GRCm39) missense possibly damaging 0.63
R7330:Tshz1 UTSW 18 84,032,956 (GRCm39) missense probably damaging 0.96
R7491:Tshz1 UTSW 18 84,033,766 (GRCm39) missense probably damaging 1.00
R7579:Tshz1 UTSW 18 84,032,790 (GRCm39) nonsense probably null
R7592:Tshz1 UTSW 18 84,032,173 (GRCm39) missense probably damaging 1.00
R7659:Tshz1 UTSW 18 84,034,200 (GRCm39) missense probably damaging 0.97
R7702:Tshz1 UTSW 18 84,032,461 (GRCm39) missense probably damaging 1.00
R7844:Tshz1 UTSW 18 84,032,296 (GRCm39) missense probably benign 0.00
R7908:Tshz1 UTSW 18 84,032,732 (GRCm39) nonsense probably null
R7941:Tshz1 UTSW 18 84,033,517 (GRCm39) missense possibly damaging 0.91
R7947:Tshz1 UTSW 18 84,033,782 (GRCm39) missense probably damaging 1.00
R8435:Tshz1 UTSW 18 84,032,149 (GRCm39) missense probably damaging 1.00
R8750:Tshz1 UTSW 18 84,033,162 (GRCm39) missense probably damaging 1.00
R8774:Tshz1 UTSW 18 84,033,101 (GRCm39) missense possibly damaging 0.96
R8774-TAIL:Tshz1 UTSW 18 84,033,101 (GRCm39) missense possibly damaging 0.96
R9029:Tshz1 UTSW 18 84,031,639 (GRCm39) missense probably damaging 0.98
R9031:Tshz1 UTSW 18 84,032,987 (GRCm39) missense probably benign 0.08
R9573:Tshz1 UTSW 18 84,032,404 (GRCm39) missense probably benign 0.45
R9584:Tshz1 UTSW 18 84,033,089 (GRCm39) missense probably damaging 1.00
R9596:Tshz1 UTSW 18 84,031,904 (GRCm39) missense possibly damaging 0.92
R9701:Tshz1 UTSW 18 84,032,579 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- GATATCTACTCCTCCCTTGGGG -3'
(R):5'- CCCATGATACCTTGCAGCAG -3'

Sequencing Primer
(F):5'- AGGTCTTCCTCACGCAGGTAC -3'
(R):5'- TGATACCTTGCAGCAGCTCAC -3'
Posted On 2015-04-30