Incidental Mutation 'R2253:Tcf25'
ID 241819
Institutional Source Beutler Lab
Gene Symbol Tcf25
Ensembl Gene ENSMUSG00000001472
Gene Name transcription factor 25 (basic helix-loop-helix)
Synonyms Nulp1, 1810041K11Rik, D8Ertd325e, 1100001J13Rik
MMRRC Submission 040253-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2253 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 124100492-124130574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124100772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 54 (E54G)
Ref Sequence ENSEMBL: ENSMUSP00000148454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010298] [ENSMUST00000057934] [ENSMUST00000108840] [ENSMUST00000127664] [ENSMUST00000211932] [ENSMUST00000212404] [ENSMUST00000212569] [ENSMUST00000212470] [ENSMUST00000212571]
AlphaFold Q8R3L2
Predicted Effect probably benign
Transcript: ENSMUST00000010298
SMART Domains Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
KIND 26 207 2.63e-82 SMART
PDB:4EFH|B 310 360 8e-8 PDB
low complexity region 419 431 N/A INTRINSIC
low complexity region 496 513 N/A INTRINSIC
SCOP:d1zbdb_ 540 636 7e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057934
AA Change: E54G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: E54G

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 34 55 N/A INTRINSIC
low complexity region 124 136 N/A INTRINSIC
Pfam:Tcf25 248 588 4.6e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108840
AA Change: E54G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: E54G

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 34 55 N/A INTRINSIC
low complexity region 124 136 N/A INTRINSIC
Pfam:Tcf25 247 588 2.3e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211932
AA Change: E54G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000212404
Predicted Effect probably benign
Transcript: ENSMUST00000212569
AA Change: E54G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000212470
AA Change: E54G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000212571
AA Change: E54G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 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.] TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acss3 G A 10: 106,840,609 (GRCm39) A384V probably damaging Het
Aff2 G A X: 68,878,409 (GRCm39) E732K possibly damaging Het
Atp12a A G 14: 56,613,715 (GRCm39) T496A probably benign Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
Bptf G T 11: 107,002,148 (GRCm39) D321E probably damaging Het
C1ql3 C T 2: 13,015,130 (GRCm39) V177I possibly damaging Het
C2cd5 A T 6: 142,982,042 (GRCm39) Y607* probably null Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd248 A G 19: 5,118,154 (GRCm39) M1V probably null Het
Cdh18 A G 15: 23,410,891 (GRCm39) T405A probably benign Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Gch1 T C 14: 47,426,798 (GRCm39) probably benign Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kank4 A T 4: 98,667,463 (GRCm39) I328N probably damaging Het
Krt9 A T 11: 100,081,685 (GRCm39) N281K possibly damaging Het
Lgals12 T A 19: 7,584,130 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Mbtps2 A T X: 156,342,029 (GRCm39) F270L probably benign Het
Nr3c1 G T 18: 39,619,804 (GRCm39) T161K probably benign Het
Or2w3b T C 11: 58,623,821 (GRCm39) T57A probably benign Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or5b116 T C 19: 13,422,549 (GRCm39) Y58H probably damaging Het
Pla2g4d T C 2: 120,101,622 (GRCm39) K453E probably damaging Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Prl3d1 T C 13: 27,278,981 (GRCm39) Y59H possibly damaging Het
Rnf133 T C 6: 23,649,174 (GRCm39) M252V probably benign Het
Rnf181 G T 6: 72,338,467 (GRCm39) H14N possibly damaging Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc13a4 A G 6: 35,257,418 (GRCm39) V240A probably benign Het
Slc2a5 T C 4: 150,224,447 (GRCm39) Y315H possibly damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spib A G 7: 44,179,392 (GRCm39) S23P probably benign Het
Tbc1d1 A G 5: 64,442,143 (GRCm39) N721S probably benign Het
Tesl2 G A X: 23,824,950 (GRCm39) A75V probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba7 A G 9: 107,853,563 (GRCm39) H131R probably benign Het
Vmn2r6 C T 3: 64,467,139 (GRCm39) C120Y probably damaging Het
Zdhhc18 A T 4: 133,360,388 (GRCm39) probably null Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Tcf25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Tcf25 APN 8 124,119,975 (GRCm39) missense possibly damaging 0.87
IGL02638:Tcf25 APN 8 124,126,031 (GRCm39) missense probably damaging 1.00
IGL03112:Tcf25 APN 8 124,109,258 (GRCm39) splice site probably benign
R0492:Tcf25 UTSW 8 124,108,203 (GRCm39) missense probably benign 0.00
R1081:Tcf25 UTSW 8 124,108,212 (GRCm39) missense probably benign 0.00
R1543:Tcf25 UTSW 8 124,115,326 (GRCm39) missense probably benign 0.01
R1634:Tcf25 UTSW 8 124,123,830 (GRCm39) missense possibly damaging 0.68
R1662:Tcf25 UTSW 8 124,108,289 (GRCm39) missense probably benign 0.00
R4326:Tcf25 UTSW 8 124,127,882 (GRCm39) nonsense probably null
R4327:Tcf25 UTSW 8 124,127,882 (GRCm39) nonsense probably null
R4667:Tcf25 UTSW 8 124,123,764 (GRCm39) missense possibly damaging 0.89
R4977:Tcf25 UTSW 8 124,115,374 (GRCm39) missense probably benign 0.03
R5248:Tcf25 UTSW 8 124,100,678 (GRCm39) missense probably damaging 1.00
R5249:Tcf25 UTSW 8 124,115,372 (GRCm39) missense probably damaging 1.00
R5759:Tcf25 UTSW 8 124,108,196 (GRCm39) missense probably benign 0.00
R5806:Tcf25 UTSW 8 124,108,243 (GRCm39) missense probably benign 0.09
R5813:Tcf25 UTSW 8 124,122,354 (GRCm39) splice site probably null
R5905:Tcf25 UTSW 8 124,108,176 (GRCm39) missense possibly damaging 0.78
R6028:Tcf25 UTSW 8 124,108,176 (GRCm39) missense possibly damaging 0.78
R6114:Tcf25 UTSW 8 124,111,114 (GRCm39) missense probably damaging 1.00
R6349:Tcf25 UTSW 8 124,118,332 (GRCm39) missense probably damaging 1.00
R6904:Tcf25 UTSW 8 124,127,437 (GRCm39) critical splice donor site probably null
R7232:Tcf25 UTSW 8 124,127,800 (GRCm39) splice site probably null
R7287:Tcf25 UTSW 8 124,100,711 (GRCm39) missense possibly damaging 0.74
R9062:Tcf25 UTSW 8 124,116,448 (GRCm39) missense
R9135:Tcf25 UTSW 8 124,108,182 (GRCm39) missense probably benign 0.00
R9396:Tcf25 UTSW 8 124,127,831 (GRCm39) missense probably benign 0.00
RF007:Tcf25 UTSW 8 124,122,369 (GRCm39) missense probably benign 0.03
Z1176:Tcf25 UTSW 8 124,100,645 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTGAAAGCCAGCCATCTCC -3'
(R):5'- AGCAAAGTCCTGTCACTCAGC -3'

Sequencing Primer
(F):5'- CGACACGCCAATCTTGCG -3'
(R):5'- TTCCACTCGATCTCGGACGG -3'
Posted On 2014-10-16