Incidental Mutation 'IGL01409:Btf3l4'
ID 79934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btf3l4
Ensembl Gene ENSMUSG00000028568
Gene Name basic transcription factor 3-like 4
Synonyms 4632412E09Rik, 5730434I03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # IGL01409
Quality Score
Status
Chromosome 4
Chromosomal Location 108671492-108690811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108676394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 103 (S103R)
Ref Sequence ENSEMBL: ENSMUSP00000099803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102739] [ENSMUST00000102740] [ENSMUST00000102741] [ENSMUST00000102742]
AlphaFold Q9CQH7
Predicted Effect probably damaging
Transcript: ENSMUST00000102739
AA Change: S103R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099800
Gene: ENSMUSG00000028568
AA Change: S103R

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102740
AA Change: S103R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099801
Gene: ENSMUSG00000028568
AA Change: S103R

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102741
AA Change: S103R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099802
Gene: ENSMUSG00000028568
AA Change: S103R

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102742
AA Change: S103R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099803
Gene: ENSMUSG00000028568
AA Change: S103R

DomainStartEndE-ValueType
Pfam:NAC 36 92 2.5e-28 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125707
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 C T 10: 85,494,029 (GRCm39) A1049V possibly damaging Het
Arhgap26 C T 18: 39,243,504 (GRCm39) probably benign Het
Asxl1 T C 2: 153,234,860 (GRCm39) probably benign Het
Atm A T 9: 53,410,471 (GRCm39) V1037E probably benign Het
Bmp6 A G 13: 38,669,865 (GRCm39) N383S probably damaging Het
Cadps2 T C 6: 23,587,440 (GRCm39) D321G probably damaging Het
Col24a1 G A 3: 145,244,319 (GRCm39) S1531N probably benign Het
Cpb1 T A 3: 20,303,969 (GRCm39) Y365F possibly damaging Het
Dpp6 T C 5: 27,762,599 (GRCm39) Y238H probably damaging Het
Epha6 G A 16: 59,476,100 (GRCm39) R1089* probably null Het
Fga T C 3: 82,940,059 (GRCm39) F571S probably damaging Het
Focad A G 4: 88,260,542 (GRCm39) T933A unknown Het
Gm57858 T A 3: 36,080,077 (GRCm39) M227L possibly damaging Het
Gria2 A G 3: 80,615,004 (GRCm39) probably null Het
Hnrnpul1 T C 7: 25,424,077 (GRCm39) N725S unknown Het
Ik A T 18: 36,889,974 (GRCm39) K534N probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnip1 G T 11: 33,580,593 (GRCm39) D214E probably benign Het
Kcnk10 A T 12: 98,456,322 (GRCm39) Y170N probably damaging Het
Lalba A G 15: 98,379,948 (GRCm39) probably null Het
Ly75 A T 2: 60,152,036 (GRCm39) probably null Het
Myh10 T C 11: 68,698,045 (GRCm39) L1629P probably damaging Het
Myo15b C A 11: 115,760,330 (GRCm39) C1127* probably null Het
Neurl4 T G 11: 69,797,925 (GRCm39) N728K probably damaging Het
Nrxn3 T A 12: 89,477,128 (GRCm39) F801Y probably damaging Het
Nup214 G T 2: 31,916,943 (GRCm39) probably null Het
Obscn G A 11: 58,921,884 (GRCm39) R6624C probably damaging Het
Or2g1 T C 17: 38,106,413 (GRCm39) F26S probably damaging Het
Pdk1 A G 2: 71,726,123 (GRCm39) T344A probably benign Het
Pitx2 C A 3: 129,008,413 (GRCm39) S63Y probably damaging Het
Ppara A C 15: 85,661,844 (GRCm39) L28F probably damaging Het
Rad54l G A 4: 115,963,074 (GRCm39) T308I probably damaging Het
Sbds T C 5: 130,282,907 (GRCm39) E7G probably damaging Het
Slc22a19 T C 19: 7,688,495 (GRCm39) I22V probably benign Het
Slfn10-ps T C 11: 82,926,322 (GRCm39) noncoding transcript Het
Spag4 T C 2: 155,911,252 (GRCm39) S396P possibly damaging Het
Spef2 C A 15: 9,716,499 (GRCm39) L362F probably damaging Het
Srebf2 A G 15: 82,055,419 (GRCm39) T208A probably damaging Het
Ssc5d A G 7: 4,945,808 (GRCm39) T947A probably benign Het
Tdp1 T C 12: 99,875,940 (GRCm39) I297T possibly damaging Het
Tent5c A T 3: 100,380,485 (GRCm39) D90E probably damaging Het
Tsen2 T C 6: 115,536,555 (GRCm39) Y104H possibly damaging Het
Was G A X: 7,954,055 (GRCm39) R229C probably damaging Het
Other mutations in Btf3l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Btf3l4 APN 4 108,674,056 (GRCm39) missense probably benign 0.04
IGL02479:Btf3l4 APN 4 108,683,373 (GRCm39) missense possibly damaging 0.77
IGL02606:Btf3l4 APN 4 108,675,411 (GRCm39) missense probably benign 0.00
R7467:Btf3l4 UTSW 4 108,675,589 (GRCm39) splice site probably null
R8803:Btf3l4 UTSW 4 108,689,084 (GRCm39) intron probably benign
Posted On 2013-11-05