Incidental Mutation 'R7947:Tshz1'
ID 649439
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 045992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7947 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 84029752-84105831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84033782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 209 (Q209K)
Ref Sequence ENSEMBL: ENSMUSP00000089388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060303]
AlphaFold Q5DTH5
Predicted Effect probably damaging
Transcript: ENSMUST00000060303
AA Change: Q209K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: Q209K

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,938 (GRCm39) T51A probably benign Het
Abcc8 A G 7: 45,754,886 (GRCm39) probably null Het
Accs A T 2: 93,674,602 (GRCm39) M123K probably damaging Het
Ace G A 11: 105,863,880 (GRCm39) G443S possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Arhgap25 T C 6: 87,440,069 (GRCm39) D526G probably benign Het
Arhgef18 T C 8: 3,482,775 (GRCm39) L160P probably damaging Het
Arnt T G 3: 95,381,837 (GRCm39) probably null Het
Art3 A G 5: 92,540,359 (GRCm39) N34S possibly damaging Het
Avl9 A T 6: 56,700,526 (GRCm39) E53D possibly damaging Het
AW209491 A T 13: 14,811,447 (GRCm39) E100V probably benign Het
Axin2 T C 11: 108,814,529 (GRCm39) I139T probably damaging Het
Birc7 G T 2: 180,575,103 (GRCm39) V280L probably damaging Het
Bmal1 T C 7: 112,886,353 (GRCm39) Y137H probably damaging Het
C1ra A G 6: 124,494,338 (GRCm39) N262D probably benign Het
Cacna1g A G 11: 94,348,001 (GRCm39) F696L probably benign Het
Casp14 T A 10: 78,550,079 (GRCm39) probably null Het
Ciao2a A G 9: 66,045,684 (GRCm39) I151V probably benign Het
Crlf1 T C 8: 70,951,862 (GRCm39) Y176H probably damaging Het
Dnajb4 A T 3: 151,892,468 (GRCm39) S122T probably benign Het
Dthd1 G A 5: 62,971,653 (GRCm39) D159N possibly damaging Het
Erich6 A T 3: 58,528,699 (GRCm39) I517N possibly damaging Het
Fam118b T A 9: 35,129,239 (GRCm39) H343L probably benign Het
Fat2 T A 11: 55,178,560 (GRCm39) D1500V probably damaging Het
Fcgbp T C 7: 27,803,595 (GRCm39) probably null Het
Fgfrl1 A G 5: 108,853,142 (GRCm39) D255G probably damaging Het
Gm9611 G A 14: 42,118,087 (GRCm39) Q82* probably null Het
Ifit3 G T 19: 34,565,359 (GRCm39) E302* probably null Het
Igkv3-9 G A 6: 70,565,737 (GRCm39) C112Y probably damaging Het
Ints4 A G 7: 97,148,792 (GRCm39) T233A probably benign Het
Khnyn A T 14: 56,125,059 (GRCm39) S438C probably damaging Het
Kifc1 T C 17: 34,102,849 (GRCm39) R192G probably benign Het
Kntc1 T C 5: 123,919,951 (GRCm39) S98P unknown Het
Krt1c A T 15: 101,724,769 (GRCm39) D280E probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Macf1 T C 4: 123,295,200 (GRCm39) I5344V probably damaging Het
Mcf2l A T 8: 13,053,529 (GRCm39) probably null Het
Mms22l A C 4: 24,505,373 (GRCm39) H211P probably damaging Het
Nipsnap1 A G 11: 4,839,145 (GRCm39) R163G possibly damaging Het
Nusap1 A G 2: 119,477,616 (GRCm39) N375S possibly damaging Het
Or51t4 A G 7: 102,598,278 (GRCm39) Y202C probably damaging Het
Or52e19b A T 7: 103,032,735 (GRCm39) V158D possibly damaging Het
Or8g17 A G 9: 38,930,747 (GRCm39) L30P probably damaging Het
Phf14 G A 6: 11,933,306 (GRCm39) G56D unknown Het
Phykpl G A 11: 51,477,408 (GRCm39) V67M probably damaging Het
Pigk A G 3: 152,453,404 (GRCm39) D374G probably benign Het
Pirb A G 7: 3,722,857 (GRCm39) V45A probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Rb1cc1 T C 1: 6,318,786 (GRCm39) V735A probably damaging Het
Rcor2 A G 19: 7,251,225 (GRCm39) T333A possibly damaging Het
Ret A G 6: 118,151,305 (GRCm39) V593A probably benign Het
Scgb1b10 A T 7: 31,800,570 (GRCm39) D53V probably damaging Het
Sec61a2 G A 2: 5,881,794 (GRCm39) A212V probably damaging Het
Sgpl1 A T 10: 60,942,121 (GRCm39) F245I probably damaging Het
Sh2d4b A C 14: 40,542,723 (GRCm39) V351G probably damaging Het
Shld2 C T 14: 33,990,436 (GRCm39) V157I probably benign Het
Slc22a1 T A 17: 12,871,310 (GRCm39) M484L probably benign Het
Slit1 C G 19: 41,599,247 (GRCm39) G1066R probably damaging Het
Slit1 A T 19: 41,599,248 (GRCm39) D1065E probably benign Het
Spg11 G A 2: 121,922,803 (GRCm39) A882V probably damaging Het
Stab2 A C 10: 86,681,897 (GRCm39) F2501L probably benign Het
Stim2 A T 5: 54,275,671 (GRCm39) K607N probably damaging Het
Syde1 C T 10: 78,425,916 (GRCm39) V84M probably damaging Het
Tepsin A T 11: 119,985,061 (GRCm39) N202K probably benign Het
Tmem207 T A 16: 26,335,495 (GRCm39) I81F possibly damaging Het
Tnc C A 4: 63,935,580 (GRCm39) G452V probably damaging Het
Ttn A T 2: 76,773,696 (GRCm39) N2308K unknown Het
Zfp266 A G 9: 20,410,548 (GRCm39) I543T probably benign Het
Zfp777 G T 6: 48,001,645 (GRCm39) P815Q probably damaging Het
Zhx3 A G 2: 160,623,015 (GRCm39) I384T 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
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
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
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'- ATAGTGGCCTGTCTCGTTCATG -3'
(R):5'- AGTCCAATTCTGCCACCAG -3'

Sequencing Primer
(F):5'- CGTTCATGTGCACCGTCAG -3'
(R):5'- CCAGCCAGAAGGAGAGTTCC -3'
Posted On 2020-09-15