Incidental Mutation 'R6299:Tcf12'
ID 508980
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 044465-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6299 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 71751534-72019611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71766211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 474 (V474D)
Ref Sequence ENSEMBL: ENSMUSP00000139084 (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: V474D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: V474D

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: V498D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: V498D

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: ENSMUST00000183918
AA Change: V328D

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: V328D

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: V474D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: V474D

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 possibly damaging
Transcript: ENSMUST00000184448
AA Change: V304D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: V304D

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: V494D

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: V494D

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 damaging
Transcript: ENSMUST00000184783
AA Change: V498D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: V498D

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: V474D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: V474D

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 benign
Transcript: ENSMUST00000184867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195551
Meta Mutation Damage Score 0.1215 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bms1 G A 6: 118,395,476 (GRCm39) R24W probably damaging Het
C130050O18Rik A T 5: 139,400,126 (GRCm39) S60C probably damaging Het
Cabcoco1 A G 10: 68,272,720 (GRCm39) Y222H probably damaging Het
Cc2d1b T C 4: 108,485,335 (GRCm39) V559A probably benign Het
Cgrrf1 T A 14: 47,077,647 (GRCm39) N46K probably damaging Het
Clca3a1 T C 3: 144,464,275 (GRCm39) D114G probably damaging Het
Clcnkb T A 4: 141,138,034 (GRCm39) L279F probably damaging Het
Cr2 T C 1: 194,850,954 (GRCm39) T151A probably damaging Het
Creb3l3 C T 10: 80,924,447 (GRCm39) E236K probably damaging Het
Dcstamp T A 15: 39,618,599 (GRCm39) V336D probably damaging Het
Dop1a T G 9: 86,386,265 (GRCm39) F379V probably damaging Het
Esf1 T C 2: 139,965,554 (GRCm39) K714R possibly damaging Het
Exoc3l4 A T 12: 111,388,513 (GRCm39) M1L possibly damaging Het
Extl3 T C 14: 65,314,121 (GRCm39) R354G probably benign Het
Fastkd3 T C 13: 68,735,855 (GRCm39) L535P probably damaging Het
Gab2 A G 7: 96,731,066 (GRCm39) T12A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Golga4 T A 9: 118,386,438 (GRCm39) S1187T probably benign Het
Haus3 A G 5: 34,325,140 (GRCm39) V173A probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hspg2 A G 4: 137,272,016 (GRCm39) Y2566C probably damaging Het
Inpp5f A T 7: 128,237,884 (GRCm39) T34S possibly damaging Het
Iqck G A 7: 118,475,485 (GRCm39) G70S unknown Het
Jade1 T C 3: 41,568,160 (GRCm39) F743L probably damaging Het
Kif5a T C 10: 127,069,690 (GRCm39) K845R probably damaging Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Map2k1 T C 9: 64,121,772 (GRCm39) D67G possibly damaging Het
Mcm9 A C 10: 53,413,777 (GRCm39) C434W probably damaging Het
Muc4 T G 16: 32,570,853 (GRCm39) S638A possibly damaging Het
Nectin3 A G 16: 46,284,345 (GRCm39) V113A probably damaging Het
Nfya T C 17: 48,699,938 (GRCm39) probably benign Het
Nup155 G T 15: 8,157,922 (GRCm39) A460S possibly damaging Het
Nup210 T C 6: 91,051,270 (GRCm39) E371G possibly damaging Het
Olfm3 T C 3: 114,914,632 (GRCm39) S228P probably damaging Het
Or52n20 C A 7: 104,320,075 (GRCm39) D55E probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Plin1 A C 7: 79,371,224 (GRCm39) V500G probably benign Het
Ppfia1 A C 7: 144,064,049 (GRCm39) M513R probably benign Het
Ppp1cb T A 5: 32,640,798 (GRCm39) C27* probably null Het
Prss22 T A 17: 24,215,408 (GRCm39) I123F probably damaging Het
Rbm24 G T 13: 46,572,549 (GRCm39) V15L probably damaging Het
Reln T C 5: 22,491,942 (GRCm39) T97A possibly damaging Het
Sipa1l2 T C 8: 126,180,203 (GRCm39) T1065A possibly damaging Het
Sipa1l3 A C 7: 29,065,974 (GRCm39) probably null Het
Snrnp200 T A 2: 127,064,081 (GRCm39) Y689* probably null Het
Srcap T C 7: 127,129,626 (GRCm39) probably benign Het
Sv2a T C 3: 96,095,565 (GRCm39) probably null Het
Tpcn2 A T 7: 144,815,980 (GRCm39) S403T probably damaging Het
Trim65 C A 11: 116,017,377 (GRCm39) A362S probably benign Het
Trmt1 T A 8: 85,423,919 (GRCm39) C36* probably null Het
Trpm8 T A 1: 88,282,201 (GRCm39) L699Q probably damaging Het
Ube2m A C 7: 12,769,797 (GRCm39) I116R probably damaging Het
Ulk1 T C 5: 110,938,963 (GRCm39) K492E possibly damaging Het
Usp40 T A 1: 87,925,649 (GRCm39) K193N probably damaging Het
Vmn1r3 A G 4: 3,185,098 (GRCm39) S70P possibly damaging Het
Vmn2r2 T A 3: 64,024,074 (GRCm39) K836* probably null Het
Vmn2r75 T A 7: 85,814,482 (GRCm39) H337L probably benign Het
Wars1 G A 12: 108,827,309 (GRCm39) T437M probably benign Het
Zdhhc5 T C 2: 84,520,825 (GRCm39) T451A probably benign Het
Zfp788 T G 7: 41,297,965 (GRCm39) H180Q possibly damaging Het
Zkscan7 A G 9: 122,717,782 (GRCm39) E59G probably 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
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'- CTTCTGGAGGCAAGGGAAAGTC -3'
(R):5'- TGTTCACCAAAATTCGGAAAGAGTG -3'

Sequencing Primer
(F):5'- GGGAAAGTCTGTTATGTAGACCC -3'
(R):5'- CCTGTAATCCTGGCTATTCAGAAGAC -3'
Posted On 2018-04-02