Incidental Mutation 'R7233:Tshz1'
ID 562669
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 045343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7233 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 84029752-84105831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84032944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 488 (D488G)
Ref Sequence ENSEMBL: ENSMUSP00000089388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060303]
AlphaFold Q5DTH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000060303
AA Change: D488G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: D488G

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,762,641 (GRCm39) K505R probably benign Het
Arhgap24 A G 5: 103,026,367 (GRCm39) K263E probably benign Het
Ark2n C A 18: 77,722,882 (GRCm39) V385F probably damaging Het
Armc2 A T 10: 41,799,800 (GRCm39) V686D probably damaging Het
Bhmt T A 13: 93,758,025 (GRCm39) K229* probably null Het
Birc2 A T 9: 7,827,009 (GRCm39) C326S probably damaging Het
Blzf1 A T 1: 164,123,512 (GRCm39) probably null Het
Camsap3 T A 8: 3,650,371 (GRCm39) F223Y probably damaging Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2h T A 8: 105,744,088 (GRCm39) C279S probably damaging Het
Cfap44 T A 16: 44,242,771 (GRCm39) L725Q probably damaging Het
Cibar2 A G 8: 120,898,661 (GRCm39) L131P probably damaging Het
Clip1 T C 5: 123,749,922 (GRCm39) E987G probably damaging Het
Cog1 G T 11: 113,540,556 (GRCm39) R57L probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnttip2 T C 3: 122,070,039 (GRCm39) V418A probably benign Het
Dop1a G A 9: 86,403,749 (GRCm39) A186T probably benign Het
Efcab3 T C 11: 104,730,669 (GRCm39) S1966P possibly damaging Het
Engase T A 11: 118,373,827 (GRCm39) V323E probably damaging Het
Farsb A G 1: 78,447,718 (GRCm39) probably null Het
Fpr2 G T 17: 18,113,766 (GRCm39) W254L probably damaging Het
Frmd3 A C 4: 73,932,023 (GRCm39) H6P probably benign Het
Fscn1 C T 5: 142,956,029 (GRCm39) S366L possibly damaging Het
Galt T A 4: 41,758,267 (GRCm39) I344N probably benign Het
Gfra4 A T 2: 130,883,037 (GRCm39) V194E probably damaging Het
Golgb1 T C 16: 36,735,120 (GRCm39) S1497P possibly damaging Het
Igfn1 A C 1: 135,897,873 (GRCm39) S898A probably benign Het
Igkv1-135 T C 6: 67,587,332 (GRCm39) S68P probably benign Het
Lama2 A T 10: 27,107,659 (GRCm39) C784S probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lats2 A T 14: 57,960,151 (GRCm39) probably null Het
Lgr6 A C 1: 134,928,214 (GRCm39) probably null Het
Lrp1 A T 10: 127,430,930 (GRCm39) I373N probably damaging Het
Maml2 A T 9: 13,532,067 (GRCm39) H427L Het
Mansc1 A G 6: 134,598,806 (GRCm39) V37A probably damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mastl A G 2: 23,023,670 (GRCm39) I351T probably benign Het
Mcmdc2 T G 1: 10,002,408 (GRCm39) probably null Het
Mrgprd A G 7: 144,875,672 (GRCm39) D181G possibly damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Msra T C 14: 64,360,714 (GRCm39) Y209C probably damaging Het
Musk A G 4: 58,373,307 (GRCm39) E759G possibly damaging Het
Nab1 T C 1: 52,498,378 (GRCm39) *487W probably null Het
Or2z9 A G 8: 72,853,900 (GRCm39) T99A probably benign Het
Or5p66 T A 7: 107,885,923 (GRCm39) T137S probably benign Het
Pkdrej A G 15: 85,705,349 (GRCm39) S196P probably damaging Het
Pln A G 10: 53,220,008 (GRCm39) T17A probably damaging Het
Polrmt A T 10: 79,581,619 (GRCm39) probably null Het
Ppp1r14a T A 7: 28,988,949 (GRCm39) Y64N probably damaging Het
Ppp1r9a A T 6: 5,134,804 (GRCm39) H959L probably benign Het
Pramel42 A T 5: 94,685,524 (GRCm39) M395L probably benign Het
Prmt7 A G 8: 106,946,642 (GRCm39) T75A probably damaging Het
Prom1 T C 5: 44,194,816 (GRCm39) S319G possibly damaging Het
Prtg G A 9: 72,819,273 (GRCm39) G1089S probably benign Het
Ptprd T C 4: 75,978,020 (GRCm39) D596G probably benign Het
Rbm12 C T 2: 155,937,894 (GRCm39) G793S unknown Het
Rora A T 9: 69,104,804 (GRCm39) R43* probably null Het
Sez6 T C 11: 77,863,963 (GRCm39) Y482H probably damaging Het
Skint2 A T 4: 112,483,122 (GRCm39) N176Y probably damaging Het
Slc44a2 G T 9: 21,259,445 (GRCm39) probably null Het
Sox6 A G 7: 115,089,044 (GRCm39) V606A possibly damaging Het
Spa17 T C 9: 37,514,587 (GRCm39) probably null Het
Syne1 A C 10: 5,252,160 (GRCm39) L2498R probably damaging Het
Synpo2 T G 3: 122,911,333 (GRCm39) H104P probably benign Het
Tapbp G T 17: 34,138,943 (GRCm39) A46S probably damaging Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Ulk1 A G 5: 110,956,908 (GRCm39) L70P probably damaging Het
Zcchc17 T A 4: 130,221,116 (GRCm39) D145V probably damaging Het
Zfp318 T A 17: 46,716,978 (GRCm39) L1037M probably damaging Het
Zfp324 C T 7: 12,704,524 (GRCm39) Q238* probably null Het
Zfp874a A G 13: 67,590,776 (GRCm39) Y303H possibly damaging Het
Zfp975 T C 7: 42,311,918 (GRCm39) K232E probably benign Het
Zfp982 T A 4: 147,597,718 (GRCm39) N358K probably benign Het
Zmiz1 C T 14: 25,650,092 (GRCm39) P417S possibly 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
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
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'- GGCTGTCATCTAGGTCTTCC -3'
(R):5'- AGTGCATGGAATGTGGCAGC -3'

Sequencing Primer
(F):5'- AGGTCTTCCTCACGCAGGTAC -3'
(R):5'- GAATGTGGCAGCTCCCATGATAC -3'
Posted On 2019-06-26