Incidental Mutation 'R4860:Tcf12'
ID 374481
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 042471-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4860 (G1)
Quality Score 225
Status Not 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 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: ENSMUST00000184770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195551
Meta Mutation Damage Score 0.1629 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.3%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,209,267 (GRCm39) S466P possibly damaging Het
Ablim1 T C 19: 57,068,298 (GRCm39) T267A probably damaging Het
Acap2 A T 16: 30,922,317 (GRCm39) L724Q possibly damaging Het
Acsbg3 A G 17: 57,195,655 (GRCm39) N684S probably benign Het
Adcy4 T C 14: 56,019,384 (GRCm39) T89A possibly damaging Het
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Ajm1 T C 2: 25,468,765 (GRCm39) Y382C probably damaging Het
Akr1d1 G A 6: 37,541,426 (GRCm39) V308M probably damaging Het
Ap1m2 C T 9: 21,220,970 (GRCm39) R54Q probably benign Het
Arhgap45 T A 10: 79,862,900 (GRCm39) V692E probably damaging Het
Arid5b G T 10: 68,078,925 (GRCm39) N137K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
BC048679 T C 7: 81,145,468 (GRCm39) N27D probably benign Het
Ccdc78 A G 17: 26,007,674 (GRCm39) N237S probably benign Het
Cd46 G A 1: 194,744,704 (GRCm39) L345F possibly damaging Het
Cngb3 A T 4: 19,425,569 (GRCm39) N459I possibly damaging Het
Ctnnd2 A G 15: 30,881,313 (GRCm39) E731G probably damaging Het
Ctsh A G 9: 89,936,601 (GRCm39) E26G probably benign Het
Cul1 G T 6: 47,494,080 (GRCm39) K464N probably benign Het
Cul1 T A 6: 47,494,125 (GRCm39) S479R probably damaging Het
Dcaf5 A T 12: 80,387,006 (GRCm39) D373E probably benign Het
Dhcr7 A G 7: 143,394,237 (GRCm39) Q126R probably benign Het
Dok2 T C 14: 71,014,956 (GRCm39) F228L probably damaging Het
Dpep3 T G 8: 106,702,821 (GRCm39) I314L probably benign Het
Eps8 A G 6: 137,491,293 (GRCm39) F362L probably damaging Het
Espn G T 4: 152,223,303 (GRCm39) R250S probably damaging Het
Faf1 A C 4: 109,600,093 (GRCm39) N163H probably damaging Het
Fcho1 C T 8: 72,163,125 (GRCm39) V635I probably benign Het
Garin5b C T 7: 4,760,468 (GRCm39) probably null Het
Gask1b C A 3: 79,843,981 (GRCm39) S36* probably null Het
Gm7579 G A 7: 141,765,645 (GRCm39) C17Y unknown Het
Gpx8 G T 13: 113,182,042 (GRCm39) Y130* probably null Het
Gvin1 A T 7: 105,762,643 (GRCm39) Y609N possibly damaging Het
Hectd4 T A 5: 121,443,881 (GRCm39) M30K probably benign Het
Iqub T C 6: 24,450,841 (GRCm39) D586G probably damaging Het
Klhl25 T C 7: 75,516,798 (GRCm39) I568T probably benign Het
Larp6 A G 9: 60,645,093 (GRCm39) E411G probably damaging Het
Lepr A C 4: 101,646,534 (GRCm39) I822L probably benign Het
Lrig3 C A 10: 125,846,921 (GRCm39) D896E probably benign Het
Lrp1 C T 10: 127,389,693 (GRCm39) G3114D probably damaging Het
Lyset A T 12: 102,710,314 (GRCm39) probably benign Het
Macf1 A T 4: 123,380,543 (GRCm39) Y1263N probably damaging Het
Mapk10 T C 5: 103,138,485 (GRCm39) D180G probably damaging Het
Matr3 T A 18: 35,714,693 (GRCm39) V113E probably damaging Het
Mbd4 A T 6: 115,825,887 (GRCm39) F368Y possibly damaging Het
Mcpt8 G A 14: 56,319,737 (GRCm39) R238W probably benign Het
Mcrip2 G T 17: 26,083,621 (GRCm39) T86N possibly damaging Het
Mink1 A G 11: 70,502,418 (GRCm39) N1043S probably damaging Het
Muc4 G A 16: 32,754,616 (GRCm38) G1497R probably benign Het
Muc4 T A 16: 32,754,625 (GRCm38) S1500T probably benign Het
Nbeal2 G A 9: 110,464,262 (GRCm39) T1128I probably benign Het
Nrg2 T A 18: 36,329,600 (GRCm39) Y205F probably damaging Het
Nubp2 A G 17: 25,103,430 (GRCm39) M149T probably benign Het
Or4d2b T A 11: 87,780,051 (GRCm39) M224L probably damaging Het
Or8d6 G T 9: 39,853,800 (GRCm39) M81I probably benign Het
Or8j3c T C 2: 86,253,301 (GRCm39) T240A probably damaging Het
Pax3 A G 1: 78,169,093 (GRCm39) I191T possibly damaging Het
Pdcd5 T C 7: 35,343,135 (GRCm39) N137D possibly damaging Het
Pik3c2a G A 7: 115,939,391 (GRCm39) A1649V probably damaging Het
Pkhd1l1 T C 15: 44,400,774 (GRCm39) S2183P possibly damaging Het
Plekho1 T A 3: 95,896,305 (GRCm39) Q388L possibly damaging Het
Ppfibp1 A G 6: 146,892,012 (GRCm39) T91A probably benign Het
Ptger4 G T 15: 5,272,087 (GRCm39) N177K probably benign Het
Reln A G 5: 22,106,749 (GRCm39) F3207S probably benign Het
Rigi G T 4: 40,210,000 (GRCm39) S644R probably damaging Het
Ripk4 C T 16: 97,552,736 (GRCm39) R194H probably damaging Het
Rnf112 A T 11: 61,343,570 (GRCm39) C112S possibly damaging Het
Rprd1b T G 2: 157,916,855 (GRCm39) Y278* probably null Het
Sel1l A G 12: 91,798,376 (GRCm39) L140P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc38a3 A G 9: 107,532,263 (GRCm39) V423A probably damaging Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Slmap A T 14: 26,181,364 (GRCm39) V323E probably benign Het
Smim6 T C 11: 115,804,330 (GRCm39) V39A probably benign Het
Sorbs1 T C 19: 40,325,449 (GRCm39) T382A probably benign Het
Sparc G A 11: 55,290,037 (GRCm39) T218I possibly damaging Het
Steap1 A T 5: 5,786,589 (GRCm39) F283I probably damaging Het
Stil A G 4: 114,895,671 (GRCm39) T586A probably benign Het
Tbce T A 13: 14,194,380 (GRCm39) D93V probably damaging Het
Tex55 A G 16: 38,648,507 (GRCm39) S201P probably damaging Het
Tle4 A T 19: 14,441,709 (GRCm39) I435K probably benign Het
Tmem245 A G 4: 56,899,164 (GRCm39) F254S probably damaging Het
Tubgcp3 T C 8: 12,699,722 (GRCm39) K377R probably benign Het
Ush2a A T 1: 188,285,472 (GRCm39) T2003S probably benign Het
Usp53 A G 3: 122,755,012 (GRCm39) S32P possibly damaging Het
Vmn1r78 T A 7: 11,886,683 (GRCm39) L98Q probably damaging Het
Vmn2r116 A C 17: 23,620,777 (GRCm39) Q837P probably benign Het
Vmn2r3 T C 3: 64,183,022 (GRCm39) I226V probably benign Het
Vmn2r84 T A 10: 130,221,712 (GRCm39) D836V probably damaging Het
Vps13d A G 4: 144,813,731 (GRCm39) F165L probably benign Het
Vstm4 A G 14: 32,585,742 (GRCm39) E103G possibly damaging Het
Zfp870 A T 17: 33,102,314 (GRCm39) C339* probably null 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
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
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'- ATTTTGTACACCACCTACCGAAGAG -3'
(R):5'- TTCGGAAAGAGTGACACCCC -3'

Sequencing Primer
(F):5'- CCGAAGAGGTAAAGGAAACATAAAAC -3'
(R):5'- CCTGTAATCCTGGCTATTCAGAAGAC -3'
Posted On 2016-03-16