Incidental Mutation 'R2965:Tcf15'
ID 256002
Institutional Source Beutler Lab
Gene Symbol Tcf15
Ensembl Gene ENSMUSG00000068079
Gene Name transcription factor 15
Synonyms paraxis, Meso1, bHLH-EC2
MMRRC Submission 040521-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2965 (G1)
Quality Score 179
Status Not validated
Chromosome 2
Chromosomal Location 151985481-151991017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151985871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 109 (I109T)
Ref Sequence ENSEMBL: ENSMUSP00000086511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089112]
AlphaFold Q60756
Predicted Effect probably damaging
Transcript: ENSMUST00000089112
AA Change: I109T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086511
Gene: ENSMUSG00000068079
AA Change: I109T

DomainStartEndE-ValueType
HLH 76 128 4.13e-16 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Add1 C A 5: 34,788,058 (GRCm39) D702E probably benign Het
Aff3 A G 1: 38,248,791 (GRCm39) I772T probably damaging Het
Ankar T C 1: 72,714,979 (GRCm39) I382V probably benign Het
Anks1 A G 17: 28,272,879 (GRCm39) T925A probably benign Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Atp8a1 T C 5: 67,805,049 (GRCm39) D1022G probably benign Het
Cep250 A G 2: 155,836,798 (GRCm39) K2256E probably benign Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Cntln T C 4: 84,892,264 (GRCm39) probably null Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Col2a1 A G 15: 97,873,976 (GRCm39) I1402T unknown Het
Col4a3 T C 1: 82,626,321 (GRCm39) L86P unknown Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Ddx43 C A 9: 78,313,661 (GRCm39) Y197* probably null Het
Dnah7b T A 1: 46,246,732 (GRCm39) I1636N probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Dyrk2 T A 10: 118,696,242 (GRCm39) K339* probably null Het
Fam187b A C 7: 30,677,154 (GRCm39) D221A probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fgd6 T A 10: 93,880,056 (GRCm39) F303L probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gm10784 A T 13: 50,099,233 (GRCm39) noncoding transcript Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gria1 C T 11: 57,076,627 (GRCm39) Q8* probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Ice1 A T 13: 70,750,697 (GRCm39) D1796E probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Klhl2 C T 8: 65,205,794 (GRCm39) V376M probably benign Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mgam T C 6: 40,745,154 (GRCm39) V1807A possibly damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Mycbp2 A G 14: 103,534,794 (GRCm39) V304A probably benign Het
Nek10 T C 14: 14,836,202 (GRCm38) L141P probably damaging Het
Noa1 T C 5: 77,454,191 (GRCm39) E483G possibly damaging Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pkd1l1 T A 11: 8,824,236 (GRCm39) S1110C probably damaging Het
Potefam1 A T 2: 111,034,364 (GRCm39) S359T possibly damaging Het
Ppp4r4 T C 12: 103,579,080 (GRCm39) S873P probably damaging Het
Prss35 A G 9: 86,637,635 (GRCm39) D135G probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rab21 T C 10: 115,130,814 (GRCm39) N164S probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Ssrp1 A G 2: 84,871,930 (GRCm39) T385A possibly damaging Het
Tcp11 C A 17: 28,288,239 (GRCm39) D330Y probably benign Het
Tktl2 T A 8: 66,964,715 (GRCm39) V91E probably benign Het
Usp48 G A 4: 137,341,073 (GRCm39) V358M probably damaging Het
Vmn1r228 A G 17: 20,996,609 (GRCm39) I303T probably damaging Het
Zfp229 T G 17: 21,965,010 (GRCm39) H413Q probably 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
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
R9374:Tcf15 UTSW 2 151,986,039 (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'- AGTTCTATTGGTCCCGCTGG -3'
(R):5'- CTGGTTGCTGAGACAGAAGG -3'

Sequencing Primer
(F):5'- GCTATAAGGCGACGACCAGC -3'
(R):5'- TTGCTGAGACAGAAGGTGCAG -3'
Posted On 2014-12-29