Incidental Mutation 'IGL02606:Btf3l4'
ID300262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btf3l4
Ensembl Gene ENSMUSG00000028568
Gene Namebasic transcription factor 3-like 4
Synonyms5730434I03Rik, 4632412E09Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02606
Quality Score
Status
Chromosome4
Chromosomal Location108814295-108833614 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108818214 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 134 (D134G)
Ref Sequence ENSEMBL: ENSMUSP00000099803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102739] [ENSMUST00000102740] [ENSMUST00000102741] [ENSMUST00000102742]
Predicted Effect probably benign
Transcript: ENSMUST00000102739
AA Change: D134G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099800
Gene: ENSMUSG00000028568
AA Change: D134G

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102740
AA Change: D134G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099801
Gene: ENSMUSG00000028568
AA Change: D134G

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102741
AA Change: D134G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099802
Gene: ENSMUSG00000028568
AA Change: D134G

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102742
AA Change: D134G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099803
Gene: ENSMUSG00000028568
AA Change: D134G

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,242,781 N74I probably benign Het
Abr T C 11: 76,479,164 K75R probably damaging Het
Adcy10 A C 1: 165,519,518 D368A possibly damaging Het
Alas1 A G 9: 106,241,110 probably benign Het
Alms1 T A 6: 85,599,967 D168E probably benign Het
Ankar C T 1: 72,690,285 A82T possibly damaging Het
Atp2c2 C T 8: 119,730,274 T205I probably benign Het
Atp9a A T 2: 168,652,668 L639Q probably damaging Het
Cacna1s T C 1: 136,079,519 C425R probably damaging Het
Ccdc105 A G 10: 78,748,466 Y372H probably benign Het
Cct6b G T 11: 82,736,445 T322N probably damaging Het
Col19a1 G A 1: 24,534,116 R192* probably null Het
Cyp8b1 A T 9: 121,915,735 F177Y probably damaging Het
Dnajc11 T A 4: 151,979,484 N474K probably benign Het
Dusp16 T C 6: 134,761,036 E13G probably damaging Het
Ephx2 T C 14: 66,086,292 N397S probably damaging Het
Fancm T C 12: 65,076,139 V145A possibly damaging Het
Fiz1 A G 7: 5,009,159 L120P possibly damaging Het
Galnt6 C T 15: 100,714,219 V181M probably damaging Het
Ginm1 A G 10: 7,770,399 V279A probably damaging Het
Gja10 T G 4: 32,601,509 I292L probably benign Het
Gnb3 T C 6: 124,837,415 S136G probably benign Het
Gramd1a A T 7: 31,134,515 V495E probably damaging Het
Il1rn G T 2: 24,345,450 probably benign Het
Itpr3 A G 17: 27,114,512 probably benign Het
Kctd1 A G 18: 15,062,880 S229P possibly damaging Het
Kdm4a T C 4: 118,160,289 T527A probably benign Het
Kif14 C T 1: 136,496,593 A982V probably damaging Het
Klf6 A G 13: 5,866,735 K293R probably damaging Het
Letmd1 A G 15: 100,475,091 D92G probably damaging Het
Lmod1 G A 1: 135,364,480 V358M probably benign Het
Ndufs1 A T 1: 63,159,852 D295E probably damaging Het
Nek4 A G 14: 30,963,959 N283S probably benign Het
Nhsl1 A G 10: 18,511,637 T220A probably damaging Het
Nucks1 T A 1: 131,924,625 D71E probably damaging Het
Olfr1537 C A 9: 39,238,194 V77F probably damaging Het
Olfr732 T C 14: 50,282,073 Y60C probably damaging Het
Pkhd1l1 A G 15: 44,589,456 T3926A probably benign Het
Pptc7 T A 5: 122,313,588 probably benign Het
Prdm11 A G 2: 92,975,603 V334A probably benign Het
Ptdss2 C A 7: 141,152,998 C231* probably null Het
R3hdm1 C T 1: 128,190,719 P570S probably benign Het
Rlbp1 T C 7: 79,377,289 T208A possibly damaging Het
Rnaseh2a T G 8: 84,960,094 D142A probably damaging Het
Rufy4 C T 1: 74,133,350 probably benign Het
Tmem56 G T 3: 121,228,364 D128E possibly damaging Het
Ttn A G 2: 76,816,221 I11081T possibly damaging Het
Ubap2l A T 3: 90,038,428 S173R probably damaging Het
Vmn1r80 A G 7: 12,193,032 N23S probably damaging Het
Vwce C A 19: 10,655,348 probably benign Het
Other mutations in Btf3l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Btf3l4 APN 4 108816859 missense probably benign 0.04
IGL01409:Btf3l4 APN 4 108819197 missense probably damaging 0.99
IGL02479:Btf3l4 APN 4 108826176 missense possibly damaging 0.77
Posted On2015-04-16