Incidental Mutation 'R4885:Tcf12'
ID 375643
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 042851-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 71751534-72019611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71766122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 504 (G504S)
Ref Sequence ENSEMBL: ENSMUSP00000139084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034755] [ENSMUST00000183404] [ENSMUST00000183918] [ENSMUST00000183992] [ENSMUST00000184448] [ENSMUST00000184523] [ENSMUST00000185117] [ENSMUST00000184783] [ENSMUST00000184867]
AlphaFold Q61286
Predicted Effect probably null
Transcript: ENSMUST00000034755
AA Change: G504S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: G504S

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 null
Transcript: ENSMUST00000183404
AA Change: G528S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: G528S

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 null
Transcript: ENSMUST00000183918
AA Change: G358S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: G358S

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 null
Transcript: ENSMUST00000183992
AA Change: G504S

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: G504S

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 null
Transcript: ENSMUST00000184448
AA Change: G334S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: G334S

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 probably null
Transcript: ENSMUST00000184523
AA Change: G524S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: G524S

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 probably null
Transcript: ENSMUST00000185117
AA Change: G504S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: G504S

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
Predicted Effect probably null
Transcript: ENSMUST00000184783
AA Change: G528S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: G528S

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 noncoding transcript
Transcript: ENSMUST00000195551
Meta Mutation Damage Score 0.1629 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign 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
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
R7734:Tcf12 UTSW 9 71,829,943 (GRCm39) missense probably benign 0.00
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'- TTGTACACCACCTACCGAAGAG -3'
(R):5'- ATTCGGAAAGAGTGACACCC -3'

Sequencing Primer
(F):5'- CCGAAGAGGTAAAGGAAACATAAAAC -3'
(R):5'- CCTGTAATCCTGGCTATTCAGAAGAC -3'
Posted On 2016-03-17