Incidental Mutation 'IGL03007:Btbd8'
ID 407607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd8
Ensembl Gene ENSMUSG00000070632
Gene Name BTB domain containing 8
Synonyms EG627196, A830010M20Rik, Gm16115
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL03007
Quality Score
Status
Chromosome 5
Chromosomal Location 107585863-107659073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107651542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 145 (V145E)
Ref Sequence ENSEMBL: ENSMUSP00000114881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000211896]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060553
AA Change: V145E

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000100951
AA Change: V145E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: V145E

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Pfam:DUF4596 1195 1239 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112671
AA Change: V145E

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: V145E

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133800
Predicted Effect probably benign
Transcript: ENSMUST00000143074
SMART Domains Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152474
AA Change: V145E

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: V145E

DomainStartEndE-ValueType
low complexity region 339 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211896
AA Change: V657E

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,098,034 (GRCm39) N144D possibly damaging Het
A830031A19Rik T C 11: 23,999,248 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,641,347 (GRCm39) F640S probably damaging Het
Asb8 A G 15: 98,040,615 (GRCm39) Y16H probably damaging Het
Astn1 T C 1: 158,496,193 (GRCm39) probably benign Het
Celf3 A G 3: 94,394,444 (GRCm39) T183A probably benign Het
Dctn1 T C 6: 83,159,690 (GRCm39) V56A probably damaging Het
Erbb2 A C 11: 98,319,819 (GRCm39) probably benign Het
Ighv6-4 A T 12: 114,370,213 (GRCm39) Y80N possibly damaging Het
Igsf9b T C 9: 27,244,378 (GRCm39) S782P probably damaging Het
Itsn1 A T 16: 91,581,050 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,282,245 (GRCm39) Y77N possibly damaging Het
Lig3 T C 11: 82,680,401 (GRCm39) F359S probably damaging Het
Mtmr6 G T 14: 60,526,984 (GRCm39) probably benign Het
Muc4 C T 16: 32,570,866 (GRCm39) S642F possibly damaging Het
Ncoa1 T A 12: 4,389,114 (GRCm39) I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 (GRCm39) T362K probably benign Het
Ntrk1 T C 3: 87,690,050 (GRCm39) S449G possibly damaging Het
Odc1 T A 12: 17,598,811 (GRCm39) H230Q probably benign Het
Or10d4 T C 9: 39,580,767 (GRCm39) V138A possibly damaging Het
Or10h28 A G 17: 33,487,857 (GRCm39) E53G probably damaging Het
Or1j19 T C 2: 36,676,812 (GRCm39) S92P probably damaging Het
Or8d1 C T 9: 38,766,592 (GRCm39) T78I probably damaging Het
Plekhh2 A C 17: 84,882,388 (GRCm39) S665R possibly damaging Het
Qpct T A 17: 79,378,294 (GRCm39) F155I probably damaging Het
Rcor2 C A 19: 7,251,718 (GRCm39) T379K probably benign Het
Rint1 A G 5: 24,020,699 (GRCm39) N574S probably benign Het
Rsbn1 C T 3: 103,836,195 (GRCm39) A411V probably damaging Het
Sbno2 A T 10: 79,894,384 (GRCm39) probably benign Het
Sptb A G 12: 76,668,115 (GRCm39) S661P probably damaging Het
Syn3 A T 10: 85,900,778 (GRCm39) M370K possibly damaging Het
Tex101 G A 7: 24,369,906 (GRCm39) probably benign Het
Tmem255b C T 8: 13,507,066 (GRCm39) T265I possibly damaging Het
Trio G T 15: 27,902,828 (GRCm39) A211D probably damaging Het
Zfp638 C A 6: 83,961,866 (GRCm39) Q1902K probably damaging Het
Other mutations in Btbd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Btbd8 APN 5 107,656,446 (GRCm39) missense probably damaging 1.00
IGL02638:Btbd8 APN 5 107,656,422 (GRCm39) missense possibly damaging 0.87
IGL03001:Btbd8 APN 5 107,645,708 (GRCm39) missense probably damaging 1.00
IGL03008:Btbd8 APN 5 107,639,464 (GRCm39) splice site probably null
IGL03281:Btbd8 APN 5 107,651,742 (GRCm39) missense probably benign 0.02
R0206:Btbd8 UTSW 5 107,652,906 (GRCm39) missense probably benign 0.00
R0426:Btbd8 UTSW 5 107,658,239 (GRCm39) missense probably damaging 1.00
R0765:Btbd8 UTSW 5 107,654,800 (GRCm39) missense probably benign 0.14
R1747:Btbd8 UTSW 5 107,599,865 (GRCm39) missense probably damaging 1.00
R2013:Btbd8 UTSW 5 107,658,655 (GRCm39) missense probably damaging 0.99
R2338:Btbd8 UTSW 5 107,658,440 (GRCm39) missense probably damaging 0.99
R3963:Btbd8 UTSW 5 107,655,222 (GRCm39) missense probably damaging 0.99
R4460:Btbd8 UTSW 5 107,651,631 (GRCm39) missense possibly damaging 0.74
R4776:Btbd8 UTSW 5 107,658,317 (GRCm39) missense probably damaging 0.99
R4909:Btbd8 UTSW 5 107,655,176 (GRCm39) nonsense probably null
R5105:Btbd8 UTSW 5 107,658,337 (GRCm39) missense possibly damaging 0.70
R5155:Btbd8 UTSW 5 107,638,569 (GRCm39) missense probably damaging 0.96
R5700:Btbd8 UTSW 5 107,651,514 (GRCm39) missense possibly damaging 0.65
R5857:Btbd8 UTSW 5 107,609,398 (GRCm39) missense probably damaging 1.00
R5908:Btbd8 UTSW 5 107,655,460 (GRCm39) missense probably damaging 0.96
R6089:Btbd8 UTSW 5 107,654,895 (GRCm39) missense probably damaging 0.99
R6339:Btbd8 UTSW 5 107,651,583 (GRCm39) missense probably benign 0.17
R6484:Btbd8 UTSW 5 107,651,451 (GRCm39) missense probably benign 0.00
R7282:Btbd8 UTSW 5 107,658,371 (GRCm39) missense probably damaging 0.99
R7282:Btbd8 UTSW 5 107,655,062 (GRCm39) missense probably benign
R7492:Btbd8 UTSW 5 107,658,373 (GRCm39) missense probably benign 0.01
R8087:Btbd8 UTSW 5 107,632,953 (GRCm39) missense probably damaging 1.00
R8694:Btbd8 UTSW 5 107,658,635 (GRCm39) missense probably benign 0.02
R8777:Btbd8 UTSW 5 107,658,293 (GRCm39) missense probably damaging 0.99
R8777-TAIL:Btbd8 UTSW 5 107,658,293 (GRCm39) missense probably damaging 0.99
R8788:Btbd8 UTSW 5 107,618,853 (GRCm39) makesense probably null
R9240:Btbd8 UTSW 5 107,600,034 (GRCm39) missense probably benign 0.17
R9584:Btbd8 UTSW 5 107,658,347 (GRCm39) missense probably benign 0.40
Posted On 2016-08-02