Incidental Mutation 'R6119:Tcf12'
ID 485664
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 044429-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 71751534-72019611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71775547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 421 (E421V)
Ref Sequence ENSEMBL: ENSMUSP00000138832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034755] [ENSMUST00000183404] [ENSMUST00000183918] [ENSMUST00000183992] [ENSMUST00000184448] [ENSMUST00000184523] [ENSMUST00000184783] [ENSMUST00000185117] [ENSMUST00000184867]
AlphaFold Q61286
Predicted Effect probably damaging
Transcript: ENSMUST00000034755
AA Change: E401V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: E401V

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 damaging
Transcript: ENSMUST00000183404
AA Change: E425V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: E425V

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 probably damaging
Transcript: ENSMUST00000183918
AA Change: E255V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: E255V

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: E401V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: E401V

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: E231V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: E231V

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 damaging
Transcript: ENSMUST00000184523
AA Change: E421V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: E421V

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 damaging
Transcript: ENSMUST00000184783
AA Change: E425V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: E425V

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 damaging
Transcript: ENSMUST00000185117
AA Change: E401V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: E401V

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 noncoding transcript
Transcript: ENSMUST00000184770
Predicted Effect probably benign
Transcript: ENSMUST00000184867
Meta Mutation Damage Score 0.5585 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A 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
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'- GTGATTTACCATCGAAGCTGATCG -3'
(R):5'- TCATAGTCTGAAAAGAGCTGCC -3'

Sequencing Primer
(F):5'- CGACTATTTGTAACAAGGCTGGATCC -3'
(R):5'- GAAGTTCAGGTAGTCGGT -3'
Posted On 2017-08-16