Incidental Mutation 'R5964:Tcf12'
ID 471955
Institutional Source Beutler Lab
Gene Symbol Tcf12
Ensembl Gene ENSMUSG00000032228
Gene Name transcription factor 12
Synonyms HTF-4, ALF1, HEB, bHLHb20, HEBAlt, REB, HTF4, ME1
MMRRC Submission 044149-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5964 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 71842688-72111871 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71868240 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 409 (D409E)
Ref Sequence ENSEMBL: ENSMUSP00000138925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034755] [ENSMUST00000183404] [ENSMUST00000183918] [ENSMUST00000183992] [ENSMUST00000184448] [ENSMUST00000184523] [ENSMUST00000184783] [ENSMUST00000184867] [ENSMUST00000185117]
AlphaFold Q61286
Predicted Effect probably damaging
Transcript: ENSMUST00000034755
AA Change: D409E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: D409E

DomainStartEndE-ValueType
PDB:4JOL|H 177 200 7e-8 PDB
low complexity region 208 219 N/A INTRINSIC
low complexity region 256 272 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
HLH 607 660 7.54e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183404
AA Change: D433E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: D433E

DomainStartEndE-ValueType
PDB:4JOL|H 177 200 7e-8 PDB
low complexity region 208 219 N/A INTRINSIC
low complexity region 256 272 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
HLH 607 660 7.54e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183784
Predicted Effect possibly damaging
Transcript: ENSMUST00000183918
AA Change: D263E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: D263E

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
low complexity region 182 193 N/A INTRINSIC
low complexity region 388 402 N/A INTRINSIC
HLH 437 490 7.54e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183992
AA Change: D409E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: D409E

DomainStartEndE-ValueType
PDB:4JOL|H 177 200 5e-8 PDB
low complexity region 208 219 N/A INTRINSIC
low complexity region 256 272 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000184448
AA Change: D239E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: D239E

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
low complexity region 182 193 N/A INTRINSIC
low complexity region 364 378 N/A INTRINSIC
HLH 413 466 7.54e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000184523
AA Change: D429E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: D429E

DomainStartEndE-ValueType
PDB:4JOL|H 173 196 6e-8 PDB
low complexity region 204 215 N/A INTRINSIC
low complexity region 252 268 N/A INTRINSIC
low complexity region 348 359 N/A INTRINSIC
low complexity region 554 568 N/A INTRINSIC
HLH 603 656 7.54e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184770
Predicted Effect possibly damaging
Transcript: ENSMUST00000184783
AA Change: D433E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: D433E

DomainStartEndE-ValueType
PDB:4JOL|H 177 200 7e-8 PDB
low complexity region 208 219 N/A INTRINSIC
low complexity region 256 272 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
HLH 607 660 7.54e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184867
Predicted Effect probably damaging
Transcript: ENSMUST00000185117
AA Change: D409E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: D409E

DomainStartEndE-ValueType
PDB:4JOL|H 177 200 7e-8 PDB
low complexity region 208 219 N/A INTRINSIC
low complexity region 256 272 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
low complexity region 534 548 N/A INTRINSIC
HLH 583 636 7.54e-10 SMART
Meta Mutation Damage Score 0.2817 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 96% (87/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit postnatal lethality within two weeks of birth and a 50% reduction in the number of pro-B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,343,567 (GRCm38) Q581* probably null Het
Agl A G 3: 116,793,774 (GRCm38) V44A probably damaging Het
Alpk3 T A 7: 81,092,260 (GRCm38) D608E possibly damaging Het
Aspm C A 1: 139,455,227 (GRCm38) probably benign Het
Bbs2 T C 8: 94,068,367 (GRCm38) N692S probably benign Het
Bend4 A G 5: 67,417,818 (GRCm38) I240T probably benign Het
Casp8 G T 1: 58,833,736 (GRCm38) R277L possibly damaging Het
Ccdc61 A T 7: 18,900,940 (GRCm38) I123N probably damaging Het
Ccr9 T G 9: 123,779,434 (GRCm38) I60M probably benign Het
Cd163 T A 6: 124,326,572 (GRCm38) W1066R probably benign Het
Cd226 A T 18: 89,207,183 (GRCm38) H68L probably benign Het
Cdkn3 T A 14: 46,767,217 (GRCm38) C79S probably null Het
Cnnm1 A T 19: 43,469,723 (GRCm38) E658V probably benign Het
Cog7 T C 7: 121,956,029 (GRCm38) R304G probably damaging Het
Cpt1a T A 19: 3,365,760 (GRCm38) V286E possibly damaging Het
Creg2 C A 1: 39,624,954 (GRCm38) R212L probably benign Het
Cyp26a1 T G 19: 37,699,962 (GRCm38) S311A probably damaging Het
Cyp2b10 T C 7: 25,926,223 (GRCm38) Y484H probably benign Het
Cyp3a44 T A 5: 145,788,467 (GRCm38) Y308F possibly damaging Het
Dlg5 A G 14: 24,164,089 (GRCm38) V744A probably benign Het
Dlgap2 T A 8: 14,727,128 (GRCm38) Y124* probably null Het
Dnah3 T C 7: 119,922,880 (GRCm38) D4030G probably benign Het
Dnah5 A G 15: 28,458,584 (GRCm38) T4456A possibly damaging Het
Dtx2 T A 5: 136,023,699 (GRCm38) V347D probably benign Het
Gigyf2 C T 1: 87,407,167 (GRCm38) T294M probably damaging Het
Gli3 C G 13: 15,726,162 (GRCm38) S1378* probably null Het
Gm884 A G 11: 103,542,120 (GRCm38) S1232P possibly damaging Het
Gnao1 G A 8: 93,966,999 (GRCm38) D337N probably benign Het
Gp2 T A 7: 119,449,129 (GRCm38) Q422L probably benign Het
Ifit1 T A 19: 34,648,469 (GRCm38) M335K possibly damaging Het
Ism1 T C 2: 139,678,757 (GRCm38) S30P probably benign Het
Itgax A G 7: 128,140,447 (GRCm38) D677G probably damaging Het
Kansl1l G A 1: 66,725,922 (GRCm38) A442V probably damaging Het
Kif13a T C 13: 46,771,524 (GRCm38) I311M probably damaging Het
Lsm14b T A 2: 180,031,425 (GRCm38) S84R probably benign Het
Lzts3 A G 2: 130,636,288 (GRCm38) Y297H probably damaging Het
Map4k3 A G 17: 80,644,762 (GRCm38) I205T probably damaging Het
Matn2 A T 15: 34,410,165 (GRCm38) N501I probably damaging Het
Mctp2 T C 7: 72,103,177 (GRCm38) E776G probably damaging Het
Mex3d A T 10: 80,382,587 (GRCm38) N265K probably damaging Het
Myo5a A G 9: 75,203,833 (GRCm38) T1534A probably benign Het
Ncoa7 T C 10: 30,704,636 (GRCm38) M35V probably damaging Het
Nek4 G A 14: 30,957,079 (GRCm38) probably null Het
Ngrn T C 7: 80,261,933 (GRCm38) probably null Het
Nlrp1a T A 11: 71,123,020 (GRCm38) Q468L probably benign Het
Olfr1450 A C 19: 12,954,531 (GRCm38) Q314P probably benign Het
Olfr743 T A 14: 50,534,198 (GRCm38) M262K probably damaging Het
Phtf2 T C 5: 20,775,934 (GRCm38) D433G probably damaging Het
Prdm13 G A 4: 21,683,852 (GRCm38) Q140* probably null Het
Prtg G A 9: 72,892,254 (GRCm38) G778E probably benign Het
Pum3 T C 19: 27,420,051 (GRCm38) E308G probably damaging Het
Pwp1 T G 10: 85,882,886 (GRCm38) F306V probably damaging Het
Rab24 A T 13: 55,321,576 (GRCm38) Y27N probably damaging Het
Rnf215 T C 11: 4,135,898 (GRCm38) F126L probably benign Het
Samd13 A T 3: 146,680,696 (GRCm38) probably benign Het
Serac1 T A 17: 6,065,049 (GRCm38) H213L probably benign Het
Slc45a3 A G 1: 131,978,073 (GRCm38) E278G probably damaging Het
Slit3 C T 11: 35,700,236 (GRCm38) R1292C probably damaging Het
Slx4 A T 16: 4,000,951 (GRCm38) probably null Het
Smarca4 C A 9: 21,647,430 (GRCm38) T631K probably benign Het
Snx16 C T 3: 10,434,481 (GRCm38) R163Q possibly damaging Het
Stk40 T C 4: 126,128,895 (GRCm38) V140A probably damaging Het
Tgfbr2 G T 9: 116,110,255 (GRCm38) T168K possibly damaging Het
Ticam1 G T 17: 56,271,703 (GRCm38) H131N probably damaging Het
Ttn C A 2: 76,829,888 (GRCm38) R7458I possibly damaging Het
Ttn C A 2: 76,713,511 (GRCm38) E31298* probably null Het
Usp7 A G 16: 8,712,102 (GRCm38) V133A possibly damaging Het
Wbp1l C T 19: 46,654,180 (GRCm38) R191* probably null Het
Wdfy4 T C 14: 33,106,011 (GRCm38) E1118G probably damaging Het
Zfp81 G C 17: 33,336,845 (GRCm38) P3A probably damaging Het
Znhit6 A G 3: 145,576,933 (GRCm38) K21R possibly damaging Het
Other mutations in Tcf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Tcf12 APN 9 71,868,118 (GRCm38) missense probably damaging 0.98
IGL01311:Tcf12 APN 9 71,858,656 (GRCm38) splice site probably benign
IGL01734:Tcf12 APN 9 71,922,648 (GRCm38) splice site probably null
IGL01768:Tcf12 APN 9 71,868,996 (GRCm38) splice site probably null
IGL02625:Tcf12 APN 9 71,922,757 (GRCm38) missense probably damaging 1.00
IGL02671:Tcf12 APN 9 72,109,717 (GRCm38) missense probably damaging 1.00
IGL03395:Tcf12 APN 9 71,876,022 (GRCm38) missense probably damaging 1.00
Beneath UTSW 9 71,883,103 (GRCm38) splice site probably null
depauperate UTSW 9 71,868,268 (GRCm38) missense probably damaging 1.00
Poorly UTSW 9 71,944,016 (GRCm38) nonsense probably null
Poorly2 UTSW 9 71,858,929 (GRCm38) missense probably damaging 1.00
Poorly3 UTSW 9 72,015,636 (GRCm38) critical splice donor site probably null
Substandard UTSW 9 71,858,840 (GRCm38) missense probably null 0.54
R0183:Tcf12 UTSW 9 71,917,027 (GRCm38) missense probably damaging 0.99
R0257:Tcf12 UTSW 9 71,858,622 (GRCm38) missense probably benign 0.05
R1126:Tcf12 UTSW 9 72,000,433 (GRCm38) missense probably benign 0.09
R1520:Tcf12 UTSW 9 71,883,106 (GRCm38) critical splice donor site probably null
R1690:Tcf12 UTSW 9 71,870,072 (GRCm38) critical splice donor site probably null
R1819:Tcf12 UTSW 9 72,109,717 (GRCm38) missense probably damaging 1.00
R1850:Tcf12 UTSW 9 71,868,215 (GRCm38) missense probably damaging 1.00
R1888:Tcf12 UTSW 9 71,858,534 (GRCm38) missense possibly damaging 0.89
R1888:Tcf12 UTSW 9 71,858,534 (GRCm38) missense possibly damaging 0.89
R2402:Tcf12 UTSW 9 71,856,510 (GRCm38) missense probably damaging 1.00
R4445:Tcf12 UTSW 9 71,869,063 (GRCm38) missense probably damaging 0.99
R4693:Tcf12 UTSW 9 71,868,967 (GRCm38) intron probably benign
R4814:Tcf12 UTSW 9 71,870,041 (GRCm38) intron probably benign
R4860:Tcf12 UTSW 9 71,858,840 (GRCm38) missense probably null 0.54
R4860:Tcf12 UTSW 9 71,858,840 (GRCm38) missense probably null 0.54
R4885:Tcf12 UTSW 9 71,858,840 (GRCm38) missense probably null 0.54
R5347:Tcf12 UTSW 9 71,885,243 (GRCm38) missense probably damaging 1.00
R5422:Tcf12 UTSW 9 71,869,038 (GRCm38) missense probably damaging 1.00
R5650:Tcf12 UTSW 9 71,885,302 (GRCm38) splice site probably null
R5713:Tcf12 UTSW 9 71,885,263 (GRCm38) makesense probably null
R5789:Tcf12 UTSW 9 71,885,236 (GRCm38) missense probably damaging 1.00
R6012:Tcf12 UTSW 9 71,858,947 (GRCm38) missense possibly damaging 0.62
R6119:Tcf12 UTSW 9 71,868,265 (GRCm38) missense probably damaging 1.00
R6240:Tcf12 UTSW 9 71,944,016 (GRCm38) nonsense probably null
R6299:Tcf12 UTSW 9 71,858,929 (GRCm38) missense probably damaging 1.00
R6449:Tcf12 UTSW 9 71,868,268 (GRCm38) missense probably damaging 1.00
R6489:Tcf12 UTSW 9 72,015,636 (GRCm38) critical splice donor site probably null
R6984:Tcf12 UTSW 9 72,006,759 (GRCm38) nonsense probably null
R7146:Tcf12 UTSW 9 71,883,103 (GRCm38) splice site probably null
R7734:Tcf12 UTSW 9 71,922,661 (GRCm38) missense probably benign 0.00
R8007:Tcf12 UTSW 9 71,934,623 (GRCm38) intron probably benign
R8161:Tcf12 UTSW 9 72,015,651 (GRCm38) missense probably damaging 1.00
R8709:Tcf12 UTSW 9 71,922,787 (GRCm38) missense probably benign 0.00
R8709:Tcf12 UTSW 9 71,858,505 (GRCm38) missense possibly damaging 0.62
R8711:Tcf12 UTSW 9 71,849,815 (GRCm38) missense possibly damaging 0.77
R9444:Tcf12 UTSW 9 72,110,758 (GRCm38) missense probably damaging 1.00
R9667:Tcf12 UTSW 9 71,885,161 (GRCm38) missense probably benign 0.00
X0021:Tcf12 UTSW 9 71,883,172 (GRCm38) missense probably damaging 0.99
X0022:Tcf12 UTSW 9 72,109,743 (GRCm38) missense probably damaging 0.99
Z1177:Tcf12 UTSW 9 72,000,460 (GRCm38) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CGTGATTTACCATCGAAGCTGATC -3'
(R):5'- TCATAGTCTGAAAAGAGCTGCC -3'

Sequencing Primer
(F):5'- CGACTATTTGTAACAAGGCTGGATCC -3'
(R):5'- AAGTTCAGGTAGTCGGTTTTGAAAC -3'
Posted On 2017-03-31