Incidental Mutation 'R9374:Tcf15'
ID 709481
Institutional Source Beutler Lab
Gene Symbol Tcf15
Ensembl Gene ENSMUSG00000068079
Gene Name transcription factor 15
Synonyms paraxis, Meso1, bHLH-EC2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9374 (G1)
Quality Score 214.009
Status Not validated
Chromosome 2
Chromosomal Location 151985481-151991017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151986039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 165 (L165P)
Ref Sequence ENSEMBL: ENSMUSP00000086511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089112]
AlphaFold Q60756
Predicted Effect probably damaging
Transcript: ENSMUST00000089112
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086511
Gene: ENSMUSG00000068079
AA Change: L165P

DomainStartEndE-ValueType
HLH 76 128 4.13e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: In homozygotes for a targeted null mutation, cells of the paraxial mesoderm fail to form epithelia resulting in disrupted somites, patterning defects of the axial skeleton, peripheral nerves, and skeletal muscles, and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,886,397 (GRCm39) V270E probably damaging Het
Blvrb A G 7: 27,158,786 (GRCm39) D62G probably benign Het
Ccdc68 T A 18: 70,089,113 (GRCm39) S219T probably damaging Het
Celf2 G A 2: 6,590,886 (GRCm39) T303I possibly damaging Het
Cep290 T C 10: 100,372,729 (GRCm39) S1176P probably damaging Het
Cpeb2 C A 5: 43,391,584 (GRCm39) S260* probably null Het
Dscam A T 16: 96,857,857 (GRCm39) I51N probably benign Het
Erbb4 G A 1: 68,779,642 (GRCm39) Q45* probably null Het
Fam124a T G 14: 62,843,988 (GRCm39) S499A possibly damaging Het
Hipk3 T C 2: 104,301,850 (GRCm39) N114S probably benign Het
Hnrnph3 T C 10: 62,853,957 (GRCm39) M54V probably benign Het
Map7d1 T C 4: 126,127,429 (GRCm39) E720G unknown Het
Mark2 G T 19: 7,263,263 (GRCm39) T201N possibly damaging Het
Mef2c A G 13: 83,810,461 (GRCm39) N371S probably benign Het
Mgst3 T C 1: 167,205,871 (GRCm39) Y36C probably damaging Het
Mtor C T 4: 148,599,397 (GRCm39) R1482C probably damaging Het
Ndst1 G T 18: 60,845,931 (GRCm39) T126K probably damaging Het
Nkain3 C A 4: 20,778,431 (GRCm39) probably benign Het
Obscn T C 11: 58,922,787 (GRCm39) I5850V possibly damaging Het
Or11g1 C T 14: 50,651,625 (GRCm39) S208F probably benign Het
Or5d14 C T 2: 87,880,509 (GRCm39) W153* probably null Het
Or6k4 A T 1: 173,964,885 (GRCm39) T192S probably benign Het
Pbx1 T C 1: 168,258,910 (GRCm39) D55G possibly damaging Het
Pi4ka T C 16: 17,125,574 (GRCm39) E1187G Het
Pkn1 A T 8: 84,404,367 (GRCm39) N543K probably benign Het
Plin1 T C 7: 79,372,544 (GRCm39) N343D probably benign Het
Prpf4 T C 4: 62,336,131 (GRCm39) V286A probably benign Het
Pyroxd2 A G 19: 42,719,756 (GRCm39) probably null Het
Rbpms A G 8: 34,294,173 (GRCm39) F190S possibly damaging Het
Rpl10a T A 17: 28,548,006 (GRCm39) F49Y possibly damaging Het
Slc32a1 A G 2: 158,455,995 (GRCm39) T217A probably damaging Het
Slco6c1 T C 1: 97,055,827 (GRCm39) S25G probably benign Het
Slitrk5 C T 14: 111,916,496 (GRCm39) T40I probably benign Het
Smchd1 T C 17: 71,718,843 (GRCm39) N842S possibly damaging Het
Sorbs1 G A 19: 40,361,923 (GRCm39) R154* probably null Het
Stc2 A G 11: 31,310,332 (GRCm39) S235P probably benign Het
Tcaf2 C T 6: 42,619,728 (GRCm39) A100T probably benign Het
Tcerg1l T C 7: 137,995,998 (GRCm39) D170G possibly damaging Het
Tle5 T C 10: 81,399,988 (GRCm39) V62A probably damaging Het
Tmem200c G T 17: 69,148,682 (GRCm39) G422W probably damaging Het
Tnfsf13b A G 8: 10,085,391 (GRCm39) I294V possibly damaging Het
Tns3 T A 11: 8,442,606 (GRCm39) T586S probably damaging Het
Unc80 A T 1: 66,629,460 (GRCm39) E1319V possibly damaging Het
Vegfc A G 8: 54,622,180 (GRCm39) I221V possibly damaging Het
Vmn1r86 A T 7: 12,836,781 (GRCm39) Y32N possibly damaging Het
Vmn2r111 T A 17: 22,787,859 (GRCm39) L497F probably benign Het
Wdr49 T C 3: 75,230,931 (GRCm39) D577G probably benign Het
Xpo4 A G 14: 57,828,512 (GRCm39) F783L possibly damaging Het
Other mutations in Tcf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02174:Tcf15 APN 2 151,986,065 (GRCm39) splice site probably benign
IGL03162:Tcf15 APN 2 151,990,626 (GRCm39) missense probably benign 0.02
R1523:Tcf15 UTSW 2 151,985,808 (GRCm39) missense probably damaging 1.00
R2965:Tcf15 UTSW 2 151,985,871 (GRCm39) missense probably damaging 1.00
R4823:Tcf15 UTSW 2 151,985,813 (GRCm39) missense probably damaging 1.00
R5150:Tcf15 UTSW 2 151,986,051 (GRCm39) missense probably damaging 1.00
R8680:Tcf15 UTSW 2 151,986,020 (GRCm39) missense probably benign 0.00
R8863:Tcf15 UTSW 2 151,986,023 (GRCm39) missense probably damaging 1.00
R9051:Tcf15 UTSW 2 151,985,690 (GRCm39) missense probably damaging 1.00
R9552:Tcf15 UTSW 2 151,986,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTAAGATCGAGACGCTGC -3'
(R):5'- ACGCAATTAGGTCAGAGCGG -3'

Sequencing Primer
(F):5'- CTGGCGTCCAGCTACAT -3'
(R):5'- GTTAAGCAAGAGGTTCTGCTCCAC -3'
Posted On 2022-04-18