Incidental Mutation 'R7734:Tcf12'
ID 596062
Institutional Source Beutler Lab
Gene Symbol Tcf12
Ensembl Gene ENSMUSG00000032228
Gene Name transcription factor 12
Synonyms REB, HTF-4, HTF4, HEB, ALF1, HEBAlt, bHLHb20, ME1
MMRRC Submission 045790-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7734 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 71751534-72019611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71829943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 173 (V173L)
Ref Sequence ENSEMBL: ENSMUSP00000139365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034755] [ENSMUST00000183404] [ENSMUST00000183492] [ENSMUST00000183594] [ENSMUST00000183992] [ENSMUST00000184072] [ENSMUST00000184107] [ENSMUST00000184416] [ENSMUST00000184523] [ENSMUST00000184783] [ENSMUST00000184867] [ENSMUST00000185117]
AlphaFold Q61286
Predicted Effect probably benign
Transcript: ENSMUST00000034755
AA Change: V173L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: V173L

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: ENSMUST00000183404
AA Change: V173L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: V173L

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: ENSMUST00000183492
SMART Domains Protein: ENSMUSP00000138939
Gene: ENSMUSG00000032228

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183594
Predicted Effect probably benign
Transcript: ENSMUST00000183647
Predicted Effect probably benign
Transcript: ENSMUST00000183992
AA Change: V173L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: V173L

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
Predicted Effect probably benign
Transcript: ENSMUST00000184072
AA Change: V81L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139284
Gene: ENSMUSG00000032228
AA Change: V81L

DomainStartEndE-ValueType
PDB:4JOL|H 85 108 4e-8 PDB
low complexity region 116 127 N/A INTRINSIC
low complexity region 164 180 N/A INTRINSIC
low complexity region 260 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184107
Predicted Effect probably benign
Transcript: ENSMUST00000184416
Predicted Effect probably benign
Transcript: ENSMUST00000184523
AA Change: V169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: V169L

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 probably benign
Transcript: ENSMUST00000184783
AA Change: V173L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: V173L

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 benign
Transcript: ENSMUST00000185117
AA Change: V173L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: V173L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 T C 9: 69,398,764 (GRCm39) Y333H probably benign Het
Arid1a A T 4: 133,408,679 (GRCm39) F1558I unknown Het
Aste1 A G 9: 105,274,678 (GRCm39) D306G probably damaging Het
Atp2a2 A G 5: 122,596,590 (GRCm39) V843A possibly damaging Het
Atrip T A 9: 108,894,574 (GRCm39) H451L probably benign Het
Cdc42bpb T C 12: 111,295,664 (GRCm39) D200G probably damaging Het
Ceacam19 A C 7: 19,620,520 (GRCm39) M37R probably benign Het
Cemip G A 7: 83,606,872 (GRCm39) R782* probably null Het
Cpe A T 8: 65,070,654 (GRCm39) I197N probably benign Het
Csmd2 C A 4: 128,445,850 (GRCm39) P3307T Het
Cyp4a12b C A 4: 115,268,937 (GRCm39) Q20K possibly damaging Het
Dcaf1 T C 9: 106,715,878 (GRCm39) Y332H probably damaging Het
Dclk3 A G 9: 111,298,163 (GRCm39) H569R probably damaging Het
Dcp1b A G 6: 119,192,244 (GRCm39) S387G probably benign Het
Ddx24 A G 12: 103,383,819 (GRCm39) M590T possibly damaging Het
Dixdc1 T G 9: 50,613,268 (GRCm39) Q229P probably damaging Het
Dnase1l3 T C 14: 7,977,144 (GRCm38) R181G probably benign Het
Dzip1l A T 9: 99,549,735 (GRCm39) D735V probably damaging Het
Edem3 T C 1: 151,694,336 (GRCm39) S890P probably benign Het
Fuom A G 7: 139,679,455 (GRCm39) L155P unknown Het
Gm6408 C A 5: 146,421,160 (GRCm39) S263* probably null Het
Helz C G 11: 107,576,248 (GRCm39) S1814R unknown Het
Hrc T C 7: 44,986,100 (GRCm39) L417P probably benign Het
Igdcc4 A C 9: 65,039,035 (GRCm39) H894P probably damaging Het
Lgr6 C A 1: 134,930,981 (GRCm39) V296L probably damaging Het
Map3k4 T A 17: 12,482,998 (GRCm39) Y573F probably damaging Het
Mest T C 6: 30,746,299 (GRCm39) Y296H unknown Het
Mettl21a C T 1: 64,647,288 (GRCm39) V90M probably damaging Het
Mfsd4b1 A T 10: 39,883,374 (GRCm39) N25K probably damaging Het
Mmd T A 11: 90,167,579 (GRCm39) F203I probably damaging Het
Myo15a G A 11: 60,401,108 (GRCm39) V3028M probably benign Het
Nlrp1a T A 11: 70,998,826 (GRCm39) N859I unknown Het
Nrcam T C 12: 44,584,034 (GRCm39) L36P possibly damaging Het
Nup107 C A 10: 117,593,917 (GRCm39) E759* probably null Het
Or14a259 A G 7: 86,013,476 (GRCm39) I23T not run Het
Pcdh7 T G 5: 57,876,976 (GRCm39) I177S probably damaging Het
Pde6a T C 18: 61,365,938 (GRCm39) I221T probably benign Het
Ptpn13 A T 5: 103,709,828 (GRCm39) N1497I probably damaging Het
Rmc1 T A 18: 12,322,320 (GRCm39) I591N possibly damaging Het
Rpl4 T A 9: 64,084,661 (GRCm39) H245Q probably benign Het
Rsf1 C CCACGGCGGG 7: 97,229,115 (GRCm39) probably benign Het
Scara5 A G 14: 65,968,600 (GRCm39) D291G possibly damaging Het
Septin14 T A 5: 129,760,583 (GRCm39) I422L probably benign Het
Serpina1e T C 12: 103,917,151 (GRCm39) K173E probably benign Het
Slc5a1 C T 5: 33,318,279 (GRCm39) T644I probably benign Het
Slc6a13 A T 6: 121,314,334 (GRCm39) T590S probably benign Het
Smarca4 C T 9: 21,578,658 (GRCm39) T938I possibly damaging Het
Stxbp1 A T 2: 32,691,832 (GRCm39) D453E probably benign Het
Tenm3 A G 8: 49,099,368 (GRCm39) C146R probably damaging Het
Trim11 T C 11: 58,869,180 (GRCm39) C39R probably damaging Het
Trim37 A G 11: 87,068,821 (GRCm39) Y389C probably damaging Het
Ttll8 C T 15: 88,798,368 (GRCm39) G789D probably damaging Het
Tubb2a C T 13: 34,258,776 (GRCm39) S338N probably benign Het
Ulk2 G A 11: 61,744,127 (GRCm39) Q50* probably null Het
Urgcp T C 11: 5,666,406 (GRCm39) D687G probably benign Het
Usp13 C T 3: 32,892,054 (GRCm39) H78Y probably benign Het
Vmn2r100 T A 17: 19,742,296 (GRCm39) D223E probably benign Het
Vwc2 G A 11: 11,065,929 (GRCm39) A6T possibly damaging Het
Other mutations in Tcf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Tcf12 APN 9 71,775,400 (GRCm39) missense probably damaging 0.98
IGL01311:Tcf12 APN 9 71,765,938 (GRCm39) splice site probably benign
IGL01734:Tcf12 APN 9 71,829,930 (GRCm39) splice site probably null
IGL01768:Tcf12 APN 9 71,776,278 (GRCm39) splice site probably null
IGL02625:Tcf12 APN 9 71,830,039 (GRCm39) missense probably damaging 1.00
IGL02671:Tcf12 APN 9 72,016,999 (GRCm39) missense probably damaging 1.00
IGL03395:Tcf12 APN 9 71,783,304 (GRCm39) missense probably damaging 1.00
Beneath UTSW 9 71,790,385 (GRCm39) splice site probably null
depauperate UTSW 9 71,775,550 (GRCm39) missense probably damaging 1.00
Poorly UTSW 9 71,851,298 (GRCm39) nonsense probably null
Poorly2 UTSW 9 71,766,211 (GRCm39) missense probably damaging 1.00
Poorly3 UTSW 9 71,922,918 (GRCm39) critical splice donor site probably null
Substandard UTSW 9 71,766,122 (GRCm39) missense probably null 0.54
R0183:Tcf12 UTSW 9 71,824,309 (GRCm39) missense probably damaging 0.99
R0257:Tcf12 UTSW 9 71,765,904 (GRCm39) missense probably benign 0.05
R1126:Tcf12 UTSW 9 71,907,715 (GRCm39) missense probably benign 0.09
R1520:Tcf12 UTSW 9 71,790,388 (GRCm39) critical splice donor site probably null
R1690:Tcf12 UTSW 9 71,777,354 (GRCm39) critical splice donor site probably null
R1819:Tcf12 UTSW 9 72,016,999 (GRCm39) missense probably damaging 1.00
R1850:Tcf12 UTSW 9 71,775,497 (GRCm39) missense probably damaging 1.00
R1888:Tcf12 UTSW 9 71,765,816 (GRCm39) missense possibly damaging 0.89
R1888:Tcf12 UTSW 9 71,765,816 (GRCm39) missense possibly damaging 0.89
R2402:Tcf12 UTSW 9 71,763,792 (GRCm39) missense probably damaging 1.00
R4445:Tcf12 UTSW 9 71,776,345 (GRCm39) missense probably damaging 0.99
R4693:Tcf12 UTSW 9 71,776,249 (GRCm39) intron probably benign
R4814:Tcf12 UTSW 9 71,777,323 (GRCm39) intron probably benign
R4860:Tcf12 UTSW 9 71,766,122 (GRCm39) missense probably null 0.54
R4860:Tcf12 UTSW 9 71,766,122 (GRCm39) missense probably null 0.54
R4885:Tcf12 UTSW 9 71,766,122 (GRCm39) missense probably null 0.54
R5347:Tcf12 UTSW 9 71,792,525 (GRCm39) missense probably damaging 1.00
R5422:Tcf12 UTSW 9 71,776,320 (GRCm39) missense probably damaging 1.00
R5650:Tcf12 UTSW 9 71,792,584 (GRCm39) splice site probably null
R5713:Tcf12 UTSW 9 71,792,545 (GRCm39) makesense probably null
R5789:Tcf12 UTSW 9 71,792,518 (GRCm39) missense probably damaging 1.00
R5964:Tcf12 UTSW 9 71,775,522 (GRCm39) missense probably damaging 1.00
R6012:Tcf12 UTSW 9 71,766,229 (GRCm39) missense possibly damaging 0.62
R6119:Tcf12 UTSW 9 71,775,547 (GRCm39) missense probably damaging 1.00
R6240:Tcf12 UTSW 9 71,851,298 (GRCm39) nonsense probably null
R6299:Tcf12 UTSW 9 71,766,211 (GRCm39) missense probably damaging 1.00
R6449:Tcf12 UTSW 9 71,775,550 (GRCm39) missense probably damaging 1.00
R6489:Tcf12 UTSW 9 71,922,918 (GRCm39) critical splice donor site probably null
R6984:Tcf12 UTSW 9 71,914,041 (GRCm39) nonsense probably null
R7146:Tcf12 UTSW 9 71,790,385 (GRCm39) splice site probably null
R8007:Tcf12 UTSW 9 71,841,905 (GRCm39) intron probably benign
R8161:Tcf12 UTSW 9 71,922,933 (GRCm39) missense probably damaging 1.00
R8709:Tcf12 UTSW 9 71,830,069 (GRCm39) missense probably benign 0.00
R8709:Tcf12 UTSW 9 71,765,787 (GRCm39) missense possibly damaging 0.62
R8711:Tcf12 UTSW 9 71,757,097 (GRCm39) missense possibly damaging 0.77
R9444:Tcf12 UTSW 9 72,018,040 (GRCm39) missense probably damaging 1.00
R9667:Tcf12 UTSW 9 71,792,443 (GRCm39) missense probably benign 0.00
X0021:Tcf12 UTSW 9 71,790,454 (GRCm39) missense probably damaging 0.99
X0022:Tcf12 UTSW 9 72,017,025 (GRCm39) missense probably damaging 0.99
Z1177:Tcf12 UTSW 9 71,907,742 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- TTTGGATTGGGAATACTCAGCC -3'
(R):5'- AATTTCAAGGCATCGATTCAGG -3'

Sequencing Primer
(F):5'- CCCTGACTTCCAAATGATGA -3'
(R):5'- TGACGAGCTTGATCATTAGCAGC -3'
Posted On 2019-11-12