Incidental Mutation 'R1959:Tbata'
ID 218178
Institutional Source Beutler Lab
Gene Symbol Tbata
Ensembl Gene ENSMUSG00000020096
Gene Name thymus, brain and testes associated
Synonyms Spatial, 1700021K02Rik
MMRRC Submission 039973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R1959 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 61171954-61188841 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61175844 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 58 (I58T)
Ref Sequence ENSEMBL: ENSMUSP00000078227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035894] [ENSMUST00000079235] [ENSMUST00000121297] [ENSMUST00000122261] [ENSMUST00000126831] [ENSMUST00000131879] [ENSMUST00000140456] [ENSMUST00000143207] [ENSMUST00000148181] [ENSMUST00000151886]
AlphaFold Q7TSD4
Predicted Effect possibly damaging
Transcript: ENSMUST00000035894
AA Change: I53T

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: I53T

low complexity region 58 70 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
Pfam:SPATIAL 123 316 2.8e-64 PFAM
low complexity region 335 346 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079235
AA Change: I58T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096
AA Change: I58T

low complexity region 63 75 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
Pfam:SPATIAL 128 230 2.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121297
AA Change: I53T

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096
AA Change: I53T

low complexity region 58 70 N/A INTRINSIC
Pfam:SPATIAL 82 191 2.2e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122261
AA Change: I53T

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: I53T

low complexity region 58 70 N/A INTRINSIC
Pfam:SPATIAL 82 282 6.7e-76 PFAM
low complexity region 301 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126831
SMART Domains Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096

Pfam:SPATIAL 1 155 1.9e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131879
AA Change: I53T

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118942
Gene: ENSMUSG00000020096
AA Change: I53T

low complexity region 58 70 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140456
Predicted Effect probably benign
Transcript: ENSMUST00000143207
Predicted Effect probably benign
Transcript: ENSMUST00000148181
Predicted Effect probably benign
Transcript: ENSMUST00000151886
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a putative transcription factor that is highly expressed in thymic cortical stromal cells, and may be involved in T-cell development. Its expression is developmentally regulated in the testis, where it is restricted to the haploid round spermatids during spermatogenesis, and thus this gene may also have a role in the control of male germ cell development. Alternative splicing of this gene results in two sets of transcript variants: the variants containing 5 additional exons at the 3' end encode long isoforms that are highly expressed in the testis, while the variants lacking the 3' end exons encode short isoforms that are highly expressed in the thymus. Most of the transcripts encoding the short isoforms have been shown to initiate translation from non-AUG (CUG) start sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 130 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,396,393 (GRCm38) Y191H probably damaging Het
Aco1 T C 4: 40,167,193 (GRCm38) probably null Het
Adap1 A G 5: 139,273,341 (GRCm38) Y364H probably benign Het
Add2 T C 6: 86,096,756 (GRCm38) F209S probably damaging Het
Adgb A T 10: 10,395,249 (GRCm38) D883E probably benign Het
Anapc1 C A 2: 128,633,415 (GRCm38) R1381S probably benign Het
Aoah A G 13: 20,794,394 (GRCm38) M1V probably null Het
Arap1 C A 7: 101,373,015 (GRCm38) A8E probably damaging Het
Arhgap10 A G 8: 77,409,626 (GRCm38) F319S possibly damaging Het
Btrc T G 19: 45,527,343 (GRCm38) I480S probably damaging Het
Cabin1 A T 10: 75,735,090 (GRCm38) V784E possibly damaging Het
Card9 T A 2: 26,354,873 (GRCm38) probably null Het
Cdk18 A G 1: 132,117,821 (GRCm38) I238T possibly damaging Het
Clec12a A C 6: 129,350,481 (GRCm38) T21P possibly damaging Het
Commd3 A T 2: 18,673,963 (GRCm38) I70F probably benign Het
Cspg5 G A 9: 110,251,026 (GRCm38) V340M probably damaging Het
Cyb5r4 G A 9: 87,055,849 (GRCm38) S307N possibly damaging Het
Cyp26c1 T A 19: 37,687,377 (GRCm38) F230I probably damaging Het
Ddx11 A G 17: 66,130,728 (GRCm38) M150V probably benign Het
Dennd4b A G 3: 90,268,773 (GRCm38) Y190C probably damaging Het
Det1 A G 7: 78,843,443 (GRCm38) V271A probably benign Het
Dgkd C A 1: 87,929,827 (GRCm38) P754T possibly damaging Het
Dhx36 T C 3: 62,479,385 (GRCm38) S649G probably benign Het
Dlgap5 A G 14: 47,416,386 (GRCm38) I62T possibly damaging Het
Dmgdh A G 13: 93,720,559 (GRCm38) M724V probably benign Het
Dnah7a A G 1: 53,684,983 (GRCm38) S108P probably benign Het
Dock4 A T 12: 40,710,798 (GRCm38) K495M probably damaging Het
Dse A G 10: 34,160,206 (GRCm38) Y225H probably damaging Het
Emx1 G A 6: 85,203,934 (GRCm38) R211K probably damaging Het
Ergic2 A G 6: 148,199,354 (GRCm38) probably null Het
Fbxo27 G A 7: 28,698,372 (GRCm38) C277Y possibly damaging Het
Fcrl1 T C 3: 87,376,520 (GRCm38) I9T possibly damaging Het
Fjx1 T C 2: 102,450,807 (GRCm38) E261G probably benign Het
Flacc1 A T 1: 58,659,278 (GRCm38) V327D possibly damaging Het
Flnb C T 14: 7,884,735 (GRCm38) Q445* probably null Het
Flrt2 G A 12: 95,780,300 (GRCm38) V471I probably benign Het
Frmd4a G A 2: 4,535,186 (GRCm38) V210M probably damaging Het
Fsip2 A G 2: 82,991,550 (GRCm38) K5876E probably benign Het
Galnt10 T C 11: 57,765,617 (GRCm38) L209P probably damaging Het
Gata5 A T 2: 180,326,936 (GRCm38) S382T possibly damaging Het
Glt6d1 C A 2: 25,794,413 (GRCm38) V194L probably damaging Het
Gm10803 T G 2: 93,563,943 (GRCm38) V20G unknown Het
Gm44511 T G 6: 128,820,271 (GRCm38) T52P probably damaging Het
Gpat4 A T 8: 23,182,936 (GRCm38) L88Q possibly damaging Het
Gpr15 T A 16: 58,718,007 (GRCm38) I240L probably benign Het
Hivep2 A T 10: 14,132,709 (GRCm38) I1684F probably benign Het
Hmcn1 T C 1: 150,649,676 (GRCm38) T3366A probably benign Het
Hnmt A G 2: 24,003,882 (GRCm38) V200A possibly damaging Het
Hps6 A T 19: 46,004,335 (GRCm38) H237L probably benign Het
Hspg2 C T 4: 137,564,895 (GRCm38) P4033S probably damaging Het
Ift70b C T 2: 75,937,099 (GRCm38) E437K probably benign Het
Irf9 T A 14: 55,607,717 (GRCm38) S297T possibly damaging Het
Kdm3b T C 18: 34,812,395 (GRCm38) V753A possibly damaging Het
Kif21a G A 15: 90,970,848 (GRCm38) A703V probably damaging Het
Kif27 T G 13: 58,293,123 (GRCm38) R1159S probably benign Het
Krtap4-16 A G 11: 99,851,547 (GRCm38) V9A unknown Het
Lama2 G T 10: 27,422,618 (GRCm38) P161T probably damaging Het
Ltbp4 G A 7: 27,329,018 (GRCm38) P273L unknown Het
Lvrn T A 18: 46,894,717 (GRCm38) S866R probably damaging Het
Med13 A G 11: 86,298,979 (GRCm38) Y1035H probably damaging Het
Mertk T A 2: 128,759,090 (GRCm38) N331K probably damaging Het
Mios T A 6: 8,215,437 (GRCm38) F211Y probably benign Het
Mpeg1 G A 19: 12,462,911 (GRCm38) V578M probably damaging Het
Mphosph9 A T 5: 124,315,701 (GRCm38) S183T possibly damaging Het
Mrto4 A T 4: 139,349,638 (GRCm38) I56N probably damaging Het
Muc5b T C 7: 141,862,637 (GRCm38) C3107R possibly damaging Het
Ncoa2 A G 1: 13,160,252 (GRCm38) Y1023H probably damaging Het
Nlrp2 T C 7: 5,327,738 (GRCm38) E553G probably damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,924,113 (GRCm38) probably benign Het
Nr2f1 T C 13: 78,189,816 (GRCm38) T237A probably damaging Het
Nup205 C A 6: 35,233,366 (GRCm38) Q1621K probably benign Het
Nup50l A G 6: 96,165,269 (GRCm38) S265P possibly damaging Het
Nxpe2 T A 9: 48,319,726 (GRCm38) S448C probably benign Het
Ogdh T A 11: 6,346,638 (GRCm38) C498S possibly damaging Het
Oplah G A 15: 76,297,464 (GRCm38) T1119I probably damaging Het
Or14a256 A T 7: 86,616,431 (GRCm38) F71L probably benign Het
Or2ag15 T C 7: 106,741,394 (GRCm38) E180G probably damaging Het
Or2d2 A T 7: 107,128,510 (GRCm38) D294E possibly damaging Het
Or5ak24 T C 2: 85,430,619 (GRCm38) D70G probably damaging Het
Or5d46 T C 2: 88,340,201 (GRCm38) L212P probably damaging Het
Or6p1 A T 1: 174,430,905 (GRCm38) K159M probably damaging Het
Or8s8 T C 15: 98,456,753 (GRCm38) S148P probably damaging Het
Pcdhb9 T A 18: 37,403,316 (GRCm38) Y788N probably damaging Het
Pcsk5 T C 19: 17,433,418 (GRCm38) D1870G unknown Het
Pde6g A G 11: 120,448,136 (GRCm38) L76P probably damaging Het
Peak1 A T 9: 56,206,789 (GRCm38) Y593N probably damaging Het
Pfas C T 11: 68,994,284 (GRCm38) G16R probably damaging Het
Pkd1l2 A T 8: 117,043,231 (GRCm38) probably null Het
Pla2g3 C T 11: 3,490,983 (GRCm38) T316I probably benign Het
Ptpru T A 4: 131,803,477 (GRCm38) I489F probably damaging Het
Rere T G 4: 150,468,790 (GRCm38) H146Q probably benign Het
Rundc1 A T 11: 101,431,496 (GRCm38) Q272L probably damaging Het
Scml4 T C 10: 42,956,021 (GRCm38) L305P probably damaging Het
Sec16a A T 2: 26,430,132 (GRCm38) H1431Q probably benign Het
Serpina1a G A 12: 103,853,800 (GRCm38) Q373* probably null Het
Shank1 A T 7: 44,325,377 (GRCm38) N377I unknown Het
Shc2 T C 10: 79,626,791 (GRCm38) probably null Het
Slc22a29 C A 19: 8,169,193 (GRCm38) R415M probably benign Het
Slc7a2 A T 8: 40,914,965 (GRCm38) I589F probably damaging Het
Smim8 C T 4: 34,771,316 (GRCm38) R26Q probably damaging Het
Smox C A 2: 131,520,464 (GRCm38) A221D probably damaging Het
Sox5 A G 6: 143,874,105 (GRCm38) S62P possibly damaging Het
Spg21 A C 9: 65,484,492 (GRCm38) K240N probably damaging Het
Sv2c C T 13: 95,976,645 (GRCm38) V599M probably damaging Het
Tanc2 T A 11: 105,910,295 (GRCm38) H1112Q probably damaging Het
Tbc1d2 T G 4: 46,606,419 (GRCm38) Y842S probably benign Het
Tctn1 A T 5: 122,241,840 (GRCm38) probably null Het
Tenm1 T C X: 42,827,201 (GRCm38) D402G probably benign Het
Tfcp2l1 T C 1: 118,669,389 (GRCm38) V400A probably benign Het
Tm9sf2 T A 14: 122,126,164 (GRCm38) L99I probably benign Het
Top2a T C 11: 98,995,977 (GRCm38) probably null Het
Traf7 C A 17: 24,513,281 (GRCm38) G191C probably damaging Het
Trpm1 T A 7: 64,230,230 (GRCm38) L661Q probably damaging Het
Ttn T C 2: 76,750,623 (GRCm38) I23309V probably benign Het
Usp50 T C 2: 126,777,961 (GRCm38) K199E possibly damaging Het
Vmn1r218 T C 13: 23,136,513 (GRCm38) F10S probably damaging Het
Vmn2r89 C A 14: 51,457,440 (GRCm38) T459K probably benign Het
Vps13a T G 19: 16,677,938 (GRCm38) S1909R possibly damaging Het
Vwa5b2 T C 16: 20,602,191 (GRCm38) probably null Het
Vwa8 A G 14: 78,982,360 (GRCm38) H516R possibly damaging Het
Wnk1 T C 6: 119,969,247 (GRCm38) I648M probably damaging Het
Zfat G C 15: 68,146,543 (GRCm38) P974R probably benign Het
Zfc3h1 T A 10: 115,423,253 (GRCm38) I1601K probably benign Het
Zfp239 A G 6: 117,871,817 (GRCm38) K172R probably benign Het
Zfp335 C T 2: 164,894,802 (GRCm38) G971D probably damaging Het
Zfp532 A T 18: 65,624,492 (GRCm38) I499F probably damaging Het
Zfp647 T C 15: 76,911,114 (GRCm38) T449A possibly damaging Het
Zfp938 C T 10: 82,225,631 (GRCm38) G385D probably damaging Het
Zfp959 T G 17: 55,897,404 (GRCm38) V147G probably damaging Het
Znfx1 A T 2: 167,050,350 (GRCm38) C649S probably damaging Het
Other mutations in Tbata
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Tbata APN 10 61,175,960 (GRCm38) nonsense probably null
IGL02311:Tbata APN 10 61,179,455 (GRCm38) nonsense probably null
R0417:Tbata UTSW 10 61,180,339 (GRCm38) missense probably damaging 1.00
R1537:Tbata UTSW 10 61,183,491 (GRCm38) splice site probably null
R1956:Tbata UTSW 10 61,183,477 (GRCm38) missense probably damaging 0.99
R2138:Tbata UTSW 10 61,179,284 (GRCm38) missense probably benign 0.40
R4835:Tbata UTSW 10 61,183,353 (GRCm38) missense probably damaging 1.00
R6261:Tbata UTSW 10 61,175,865 (GRCm38) missense possibly damaging 0.92
R6667:Tbata UTSW 10 61,185,363 (GRCm38) missense probably damaging 1.00
R7355:Tbata UTSW 10 61,174,320 (GRCm38) unclassified probably benign
R7863:Tbata UTSW 10 61,175,742 (GRCm38) missense probably benign 0.02
R9607:Tbata UTSW 10 61,175,847 (GRCm38) missense probably benign
X0066:Tbata UTSW 10 61,188,605 (GRCm38) missense probably damaging 1.00
Z1191:Tbata UTSW 10 61,186,393 (GRCm38) missense probably benign 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-01