Incidental Mutation 'R5731:Bpifb9a'
ID 452746
Institutional Source Beutler Lab
Gene Symbol Bpifb9a
Ensembl Gene ENSMUSG00000067998
Gene Name BPI fold containing family B, member 9A
Synonyms 4833413D08Rik, vomeromodulin
MMRRC Submission 043192-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5731 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 154257854-154271245 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154262243 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 202 (N202I)
Ref Sequence ENSEMBL: ENSMUSP00000086314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088924]
AlphaFold Q80XI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000088924
AA Change: N202I

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: N202I

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
low complexity region 122 157 N/A INTRINSIC
low complexity region 167 181 N/A INTRINSIC
low complexity region 184 203 N/A INTRINSIC
Pfam:LBP_BPI_CETP 216 377 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147299
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A G 8: 33,429,325 I58V unknown Het
Abca4 G T 3: 122,132,593 G18V probably damaging Het
Arl9 T C 5: 77,006,527 V34A possibly damaging Het
C1qtnf6 A T 15: 78,527,314 M54K probably benign Het
Ccdc62 T C 5: 123,951,289 probably null Het
Cd177 A G 7: 24,744,421 C751R probably damaging Het
Clcn3 T C 8: 60,922,889 I657V possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 104,309,470 probably benign Het
Dag1 T C 9: 108,218,111 T61A probably benign Het
Fam184b C T 5: 45,553,129 G553E probably benign Het
Fkbp15 G C 4: 62,306,929 A831G probably benign Het
Flt1 T C 5: 147,678,152 H328R probably benign Het
Fmnl2 T A 2: 53,118,137 probably null Het
Gm5431 A G 11: 48,894,448 Y89H probably damaging Het
Gprin2 C A 14: 34,195,440 L124F probably damaging Het
Hacd2 T A 16: 35,102,004 Y188N probably damaging Het
Itgad A G 7: 128,198,554 T950A probably benign Het
Kit T A 5: 75,654,415 I933N possibly damaging Het
Klhl11 A T 11: 100,463,763 Y411N probably damaging Het
N4bp2 T C 5: 65,809,157 S1313P probably damaging Het
Neurog1 T C 13: 56,251,541 K131R probably damaging Het
Olfr1155 T A 2: 87,943,427 H67L possibly damaging Het
Olfr745 T C 14: 50,642,791 L170P probably damaging Het
Otogl T C 10: 107,881,464 D382G probably damaging Het
Pcdh1 A C 18: 38,198,598 F590V probably damaging Het
Pcdha5 G A 18: 36,960,767 V110M probably damaging Het
Pdlim3 A G 8: 45,915,247 N261D probably benign Het
Pou4f1 T C 14: 104,465,911 T362A unknown Het
Prlr A G 15: 10,314,135 T9A probably benign Het
Psmb7 T C 2: 38,588,277 Y245C probably damaging Het
Ryr3 T A 2: 112,641,572 D4515V probably damaging Het
Svop T C 5: 114,060,063 K149E probably damaging Het
Tlr3 A G 8: 45,398,120 V56A probably benign Het
Tm4sf20 T G 1: 82,760,292 I93L probably benign Het
Ugt2b5 T A 5: 87,140,252 R19* probably null Het
Vmn2r28 G T 7: 5,488,669 T193K probably benign Het
Vps13c A G 9: 67,895,379 D654G probably damaging Het
Zfyve16 T A 13: 92,508,193 Q1167L probably benign Het
Other mutations in Bpifb9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Bpifb9a APN 2 154264275 nonsense probably null
IGL00899:Bpifb9a APN 2 154264727 splice site probably null
IGL01998:Bpifb9a APN 2 154268200 critical splice donor site probably null
IGL02158:Bpifb9a APN 2 154266813 splice site probably benign
IGL02331:Bpifb9a APN 2 154262387 missense possibly damaging 0.45
R0066:Bpifb9a UTSW 2 154266841 missense possibly damaging 0.95
R0480:Bpifb9a UTSW 2 154264688 missense probably benign 0.33
R0545:Bpifb9a UTSW 2 154261950 nonsense probably null
R0904:Bpifb9a UTSW 2 154264225 splice site probably benign
R1028:Bpifb9a UTSW 2 154262407 missense possibly damaging 0.45
R1158:Bpifb9a UTSW 2 154262264 missense probably benign 0.08
R1465:Bpifb9a UTSW 2 154271021 missense possibly damaging 0.85
R1465:Bpifb9a UTSW 2 154271021 missense possibly damaging 0.85
R1902:Bpifb9a UTSW 2 154261991 missense probably benign 0.00
R2015:Bpifb9a UTSW 2 154268200 critical splice donor site probably null
R2152:Bpifb9a UTSW 2 154260135 missense probably benign 0.28
R2206:Bpifb9a UTSW 2 154264241 splice site probably null
R5410:Bpifb9a UTSW 2 154270235 missense probably benign 0.05
R5818:Bpifb9a UTSW 2 154262295 missense probably damaging 0.98
R5865:Bpifb9a UTSW 2 154266836 missense probably benign 0.26
R6564:Bpifb9a UTSW 2 154260178 missense probably benign 0.00
R7291:Bpifb9a UTSW 2 154267696 missense probably damaging 1.00
R7294:Bpifb9a UTSW 2 154267696 missense probably damaging 1.00
R7295:Bpifb9a UTSW 2 154267696 missense probably damaging 1.00
R7453:Bpifb9a UTSW 2 154264695 missense probably damaging 0.99
R7570:Bpifb9a UTSW 2 154262263 missense possibly damaging 0.46
R8187:Bpifb9a UTSW 2 154269457 missense probably benign 0.00
R8245:Bpifb9a UTSW 2 154262726 missense probably benign 0.00
R8459:Bpifb9a UTSW 2 154260233 missense probably damaging 0.98
R8481:Bpifb9a UTSW 2 154269479 missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGTGGACTCCTAGGCAATG -3'
(R):5'- ACTTTCCCTGGGATTGCTG -3'

Sequencing Primer
(F):5'- TGAAGGCAATGGGGATTCCTC -3'
(R):5'- GGGTTTCCCAAAGCAGCTTC -3'
Posted On 2017-01-03