Incidental Mutation 'R7491:Tshz1'
ID 580810
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
MMRRC Submission 045565-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7491 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 84029752-84105831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84033766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 214 (Y214C)
Ref Sequence ENSEMBL: ENSMUSP00000089388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060303]
AlphaFold Q5DTH5
Predicted Effect probably damaging
Transcript: ENSMUST00000060303
AA Change: Y214C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: Y214C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G T 2: 68,445,099 (GRCm39) probably null Het
5730522E02Rik A T 11: 25,719,014 (GRCm39) V44E unknown Het
Adcy9 A G 16: 4,236,673 (GRCm39) L246S possibly damaging Het
Adk C T 14: 21,284,997 (GRCm39) H123Y probably damaging Het
Adra1b T A 11: 43,726,794 (GRCm39) D41V probably benign Het
Ankib1 T G 5: 3,751,911 (GRCm39) K710Q probably damaging Het
Aoc2 T A 11: 101,219,203 (GRCm39) V542D probably benign Het
Arhgef28 T C 13: 98,081,194 (GRCm39) N1221S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,795,450 (GRCm39) probably benign Het
Bmal1 T C 7: 112,898,631 (GRCm39) V353A probably benign Het
Cacna1a C A 8: 85,285,922 (GRCm39) R856S possibly damaging Het
Cacna1c T C 6: 118,590,304 (GRCm39) M1559V Het
Cdh10 G C 15: 19,013,445 (GRCm39) E682Q probably damaging Het
Celsr1 T C 15: 85,916,719 (GRCm39) D418G possibly damaging Het
Cfap44 T C 16: 44,291,111 (GRCm39) L1537P probably damaging Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Col2a1 C T 15: 97,874,040 (GRCm39) V1449I not run Het
Cpt2 A G 4: 107,764,339 (GRCm39) F475S probably damaging Het
Cpxm1 T C 2: 130,235,487 (GRCm39) T502A probably benign Het
Creb3l2 G T 6: 37,356,794 (GRCm39) T91N probably benign Het
D630045J12Rik A T 6: 38,119,601 (GRCm39) S1714T possibly damaging Het
Dennd1c C A 17: 57,379,379 (GRCm39) V246F probably damaging Het
Dse A G 10: 34,028,561 (GRCm39) V843A probably benign Het
Ern2 C A 7: 121,769,756 (GRCm39) W810L probably damaging Het
Fer1l6 G A 15: 58,472,281 (GRCm39) D906N probably damaging Het
Fry A G 5: 150,389,791 (GRCm39) E140G Het
Galnt7 A G 8: 58,005,552 (GRCm39) V227A probably damaging Het
Gas2l3 A G 10: 89,249,763 (GRCm39) S452P probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gm826 A T 2: 160,153,942 (GRCm39) S34T unknown Het
Gzmk A T 13: 113,308,535 (GRCm39) I222N probably benign Het
Hivep3 A T 4: 119,956,027 (GRCm39) T1448S probably benign Het
Hk1 T C 10: 62,131,524 (GRCm39) D278G probably damaging Het
Ipo7 C A 7: 109,638,401 (GRCm39) Q223K possibly damaging Het
Itga9 T A 9: 118,598,179 (GRCm39) I571N probably damaging Het
Itgb6 T C 2: 60,450,720 (GRCm39) Y573C probably damaging Het
Kmt2c T A 5: 25,489,562 (GRCm39) H4459L probably damaging Het
Limch1 T G 5: 67,211,580 (GRCm39) S894R probably damaging Het
Lrit2 A T 14: 36,790,867 (GRCm39) Q182L possibly damaging Het
Mlph A T 1: 90,867,100 (GRCm39) H374L possibly damaging Het
Mmrn2 A G 14: 34,121,374 (GRCm39) H748R probably damaging Het
Mrpl58 T C 11: 115,301,092 (GRCm39) V134A possibly damaging Het
Nae1 A T 8: 105,244,871 (GRCm39) D353E probably benign Het
Naip5 A C 13: 100,353,579 (GRCm39) F1227V probably benign Het
Nln A T 13: 104,205,831 (GRCm39) F108I probably damaging Het
Nop16 C T 13: 54,736,417 (GRCm39) V94I probably benign Het
Nt5c1b A T 12: 10,424,903 (GRCm39) T150S probably benign Het
Or10d4b T G 9: 39,535,268 (GRCm39) I281S possibly damaging Het
Pcdha4 T C 18: 37,087,689 (GRCm39) V624A probably damaging Het
Pcdhga8 T C 18: 37,860,483 (GRCm39) I513T probably benign Het
Prc1 A T 7: 79,959,239 (GRCm39) probably null Het
Prpf4 T A 4: 62,336,113 (GRCm39) F280Y probably damaging Het
Ptprd T C 4: 76,051,392 (GRCm39) E43G probably benign Het
Pum1 T A 4: 130,446,485 (GRCm39) D181E probably benign Het
Rab7 A G 6: 87,990,624 (GRCm39) S17P probably damaging Het
Rgs1 T C 1: 144,121,134 (GRCm39) Y179C probably damaging Het
Rrm1 T C 7: 102,103,764 (GRCm39) C238R probably damaging Het
Rusc2 T A 4: 43,426,528 (GRCm39) L1484Q probably damaging Het
Sall3 C T 18: 81,015,920 (GRCm39) M669I probably benign Het
Saxo1 A C 4: 86,363,644 (GRCm39) F280V probably benign Het
Scn2a T C 2: 65,532,352 (GRCm39) S655P probably damaging Het
Senp6 G T 9: 80,031,010 (GRCm39) E571* probably null Het
Sin3b C G 8: 73,473,069 (GRCm39) T463S probably damaging Het
Sirt7 C A 11: 120,509,837 (GRCm39) R349L probably benign Het
Skor1 T C 9: 63,053,730 (GRCm39) T80A probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc25a23 T A 17: 57,359,822 (GRCm39) R310* probably null Het
Slco6c1 A T 1: 97,055,579 (GRCm39) H107Q probably benign Het
Slit2 A G 5: 48,377,336 (GRCm39) E455G probably benign Het
Smo G C 6: 29,736,119 (GRCm39) G37A probably damaging Het
St6galnac1 T C 11: 116,660,010 (GRCm39) K101R probably benign Het
Stat1 C A 1: 52,191,530 (GRCm39) N628K probably benign Het
Syn2 A T 6: 115,231,615 (GRCm39) Y302F probably benign Het
Tapt1 T G 5: 44,345,978 (GRCm39) Q324P probably damaging Het
Tgoln1 C T 6: 72,593,403 (GRCm39) A26T unknown Het
Timm13 T A 10: 80,736,378 (GRCm39) T43S probably benign Het
Tnfrsf19 G A 14: 61,242,654 (GRCm39) P77S possibly damaging Het
Trem3 T G 17: 48,564,969 (GRCm39) F157V probably benign Het
Trgv3 T A 13: 19,427,016 (GRCm39) M1K probably null Het
Trim33 T A 3: 103,233,464 (GRCm39) S420T probably benign Het
Trip11 T C 12: 101,851,694 (GRCm39) K790R probably damaging Het
Trnt1 A G 6: 106,755,865 (GRCm39) T307A probably benign Het
Vmn2r105 T A 17: 20,448,827 (GRCm39) T117S probably benign Het
Vmn2r45 A G 7: 8,484,342 (GRCm39) Y488H probably benign Het
Vwa8 A T 14: 79,320,254 (GRCm39) K1088N probably benign Het
Wdr35 T C 12: 9,036,000 (GRCm39) V257A probably benign Het
Zfp189 T A 4: 49,521,569 (GRCm39) S3T probably benign Het
Zscan22 G A 7: 12,640,833 (GRCm39) C359Y probably damaging Het
Zscan4-ps2 A T 7: 11,251,812 (GRCm39) R283* probably null 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
R4028: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
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'- CATCTCGATAGTGGCCTGTCTC -3'
(R):5'- AGTCCAATTCTGCCACCAG -3'

Sequencing Primer
(F):5'- CGTTCATGTGCACCGTCAG -3'
(R):5'- CCAGCCAGAAGGAGAGTTCC -3'
Posted On 2019-10-17