Incidental Mutation 'IGL01790:Tcf25'
ID 155188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf25
Ensembl Gene ENSMUSG00000001472
Gene Name transcription factor 25 (basic helix-loop-helix)
Synonyms Nulp1, 1810041K11Rik, D8Ertd325e, 1100001J13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01790
Quality Score
Status
Chromosome 8
Chromosomal Location 124100492-124130574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124119975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 382 (E382G)
Ref Sequence ENSEMBL: ENSMUSP00000148344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057934] [ENSMUST00000108840] [ENSMUST00000127664] [ENSMUST00000211932] [ENSMUST00000212470] [ENSMUST00000212569] [ENSMUST00000212571] [ENSMUST00000212880]
AlphaFold Q8R3L2
Predicted Effect possibly damaging
Transcript: ENSMUST00000057934
AA Change: E407G

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: E407G

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 possibly damaging
Transcript: ENSMUST00000108840
AA Change: E407G

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: E407G

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 possibly damaging
Transcript: ENSMUST00000211932
AA Change: E407G

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211964
Predicted Effect possibly damaging
Transcript: ENSMUST00000212470
AA Change: E382G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212569
AA Change: E382G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212571
AA Change: E407G

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212741
Predicted Effect probably benign
Transcript: ENSMUST00000212880
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 T C 1: 158,407,897 (GRCm39) I618T possibly damaging Het
Bod1l T C 5: 41,989,593 (GRCm39) S377G probably benign Het
Disp2 A T 2: 118,621,361 (GRCm39) S698C probably damaging Het
Ehbp1l1 A G 19: 5,773,012 (GRCm39) V43A probably damaging Het
Eml5 G T 12: 98,765,191 (GRCm39) T1539K probably damaging Het
Fmnl2 T C 2: 53,008,380 (GRCm39) I824T probably damaging Het
Gpr75 T G 11: 30,841,132 (GRCm39) N12K probably damaging Het
Hap1 C T 11: 100,242,732 (GRCm39) probably null Het
Helz2 A C 2: 180,880,274 (GRCm39) Y481D probably benign Het
Klhl3 T C 13: 58,157,236 (GRCm39) probably null Het
Lrcol1 A G 5: 110,502,073 (GRCm39) S49G probably damaging Het
Magi3 A G 3: 103,992,560 (GRCm39) M304T probably damaging Het
Med13l T C 5: 118,731,587 (GRCm39) W88R probably damaging Het
Nfatc1 A G 18: 80,710,257 (GRCm39) V503A probably damaging Het
Ntm C A 9: 29,322,886 (GRCm39) V45L probably benign Het
Or4c100 A G 2: 88,356,767 (GRCm39) N280S probably damaging Het
Or4f60 T A 2: 111,902,266 (GRCm39) I221L probably benign Het
Or4p22 T A 2: 88,317,270 (GRCm39) S65T possibly damaging Het
Or5b116 A G 19: 13,422,526 (GRCm39) D50G probably damaging Het
Or7a40 T C 16: 16,490,967 (GRCm39) R293G probably damaging Het
Pias4 T C 10: 80,993,332 (GRCm39) Q197R probably damaging Het
Pkhd1 T A 1: 20,628,895 (GRCm39) H684L probably damaging Het
Prr5 A C 15: 84,651,415 (GRCm39) I288L possibly damaging Het
Psmb3 T A 11: 97,603,336 (GRCm39) M183K probably damaging Het
Rasal1 T C 5: 120,808,383 (GRCm39) F472L possibly damaging Het
Rpl3 A T 15: 79,964,061 (GRCm39) probably benign Het
Scin A T 12: 40,113,256 (GRCm39) D538E probably benign Het
Sdhb T C 4: 140,701,038 (GRCm39) S165P probably benign Het
Slc43a2 C A 11: 75,436,577 (GRCm39) probably null Het
Sparc C T 11: 55,298,041 (GRCm39) probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tmx3 G A 18: 90,529,458 (GRCm39) probably null Het
Trim24 C T 6: 37,922,548 (GRCm39) P452S probably benign Het
Vsig10 T A 5: 117,476,379 (GRCm39) W278R probably damaging Het
Other mutations in Tcf25
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2253:Tcf25 UTSW 8 124,100,772 (GRCm39) missense probably benign 0.21
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
Posted On 2014-02-04