Incidental Mutation 'R8993:BB014433'
ID 684543
Institutional Source Beutler Lab
Gene Symbol BB014433
Ensembl Gene ENSMUSG00000049008
Gene Name expressed sequence BB014433
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock # R8993 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 15041444-15046078 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15042101 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 251 (V251M)
Ref Sequence ENSEMBL: ENSMUSP00000053487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]
AlphaFold Q8C5R5
Predicted Effect probably damaging
Transcript: ENSMUST00000050493
AA Change: V251M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000123331
SMART Domains Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008

DomainStartEndE-ValueType
internal_repeat_1 27 51 1.93e-5 PROSPERO
internal_repeat_2 31 59 5.9e-5 PROSPERO
internal_repeat_2 85 113 5.9e-5 PROSPERO
internal_repeat_1 95 117 1.93e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000179941
AA Change: V251M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik A T 5: 113,703,781 C92* probably null Het
A830018L16Rik G T 1: 11,545,267 E155* probably null Het
Acaa1a A T 9: 119,349,352 probably null Het
Adcy4 T C 14: 55,771,378 E864G probably null Het
Adcy4 T C 14: 55,778,699 D387G probably damaging Het
Ank1 C T 8: 23,098,939 H574Y probably damaging Het
Arhgef16 C T 4: 154,287,038 E233K probably damaging Het
Arhgef26 A T 3: 62,448,104 Y699F probably benign Het
Bcan G A 3: 87,994,222 A391V probably benign Het
Bod1l A C 5: 41,816,867 V2368G probably benign Het
Braf A G 6: 39,662,151 V222A probably damaging Het
Cd33 G T 7: 43,533,447 probably benign Het
Cdkl2 T A 5: 92,022,151 K324N probably damaging Het
Celf6 A T 9: 59,602,871 T199S probably damaging Het
Cmtm4 A C 8: 104,355,166 D196E probably benign Het
Cntn1 G A 15: 92,234,466 V148M probably damaging Het
Col1a2 C A 6: 4,535,451 P921H unknown Het
Crmp1 T C 5: 37,242,146 M1T probably null Het
Dnah7a A T 1: 53,504,103 Y2303N probably damaging Het
Dock10 G T 1: 80,574,171 T650K probably benign Het
Fam24a A G 7: 131,336,540 D53G probably benign Het
Foxa2 A T 2: 148,044,706 M69K probably benign Het
Gatad2a T A 8: 69,909,935 H601L probably damaging Het
Gimap4 A C 6: 48,690,605 D98A probably damaging Het
Gm14295 G T 2: 176,809,830 R371L possibly damaging Het
Gm5039 A G 12: 88,321,400 F28L probably benign Het
Golim4 G T 3: 75,878,128 A652E probably benign Het
Grid1 A G 14: 35,026,942 I240V probably benign Het
Iqsec3 T A 6: 121,413,313 T400S unknown Het
Itk G A 11: 46,334,908 R539C probably damaging Het
Kdelc1 G T 1: 44,112,764 L322I possibly damaging Het
Kif27 T A 13: 58,326,098 D695V possibly damaging Het
Krt79 T C 15: 101,931,006 probably benign Het
Lama2 C A 10: 27,422,714 V129L possibly damaging Het
Lonrf1 C A 8: 36,229,238 E552D possibly damaging Het
Mpp3 A G 11: 102,000,665 I549T probably benign Het
Nat1 T C 8: 67,491,742 Y260H probably benign Het
Nipal2 T A 15: 34,648,837 K69* probably null Het
Nlrx1 G T 9: 44,256,941 probably benign Het
Pde1b C A 15: 103,521,425 A115E probably benign Het
Pde4dip A G 3: 97,766,494 Y369H probably damaging Het
Pnpla7 A G 2: 25,053,419 Y1286C possibly damaging Het
Pramel5 T C 4: 144,272,959 E186G possibly damaging Het
Qdpr C T 5: 45,450,044 G20D probably damaging Het
Rmnd1 T G 10: 4,407,918 I364L probably benign Het
Slc5a4a A T 10: 76,186,535 E568V probably benign Het
Slc6a18 T A 13: 73,668,271 I330F probably benign Het
Spesp1 T C 9: 62,273,270 T119A possibly damaging Het
Sypl G A 12: 32,975,663 S242N probably benign Het
Tbx18 G A 9: 87,730,717 T43M probably benign Het
Tm7sf2 T A 19: 6,063,926 D263V probably damaging Het
Trbv21 T C 6: 41,202,990 I80T probably damaging Het
Ttc3 T A 16: 94,427,808 L747Q possibly damaging Het
Ttll11 T C 2: 35,817,801 D498G possibly damaging Het
Ttn T C 2: 76,753,370 Y22431C probably null Het
Ubtfl1 T A 9: 18,410,341 S388R Het
Vmn2r118 A T 17: 55,610,835 L226I possibly damaging Het
Wdr46 A G 17: 33,949,182 H576R probably benign Het
Zfp426 A G 9: 20,475,000 F62L probably damaging Het
Other mutations in BB014433
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:BB014433 APN 8 15042510 missense probably benign 0.03
IGL01595:BB014433 APN 8 15042499 splice site probably null
IGL02056:BB014433 APN 8 15042435 nonsense probably null
IGL02470:BB014433 APN 8 15042803 missense unknown
R0359:BB014433 UTSW 8 15042540 nonsense probably null
R1066:BB014433 UTSW 8 15042185 missense probably damaging 1.00
R1837:BB014433 UTSW 8 15042629 missense unknown
R1838:BB014433 UTSW 8 15042629 missense unknown
R2227:BB014433 UTSW 8 15041717 missense probably benign 0.34
R4508:BB014433 UTSW 8 15042095 missense possibly damaging 0.83
R4882:BB014433 UTSW 8 15042016 missense probably benign 0.05
R4996:BB014433 UTSW 8 15042166 missense probably benign 0.10
R5988:BB014433 UTSW 8 15041854 missense probably damaging 1.00
R6051:BB014433 UTSW 8 15042179 missense possibly damaging 0.83
R6483:BB014433 UTSW 8 15042208 missense probably benign 0.10
R6505:BB014433 UTSW 8 15042304 missense probably benign 0.10
R7237:BB014433 UTSW 8 15041765 missense probably benign 0.13
R7771:BB014433 UTSW 8 15042395 missense probably damaging 1.00
R7847:BB014433 UTSW 8 15042160 small deletion probably benign
R7859:BB014433 UTSW 8 15042160 small deletion probably benign
R8377:BB014433 UTSW 8 15042160 small deletion probably benign
R8560:BB014433 UTSW 8 15042160 small deletion probably benign
R9204:BB014433 UTSW 8 15042623 missense unknown
X0066:BB014433 UTSW 8 15042833 missense unknown
Predicted Primers PCR Primer
(F):5'- AGCTTTGGAGGTGTACACAC -3'
(R):5'- TAACTGAGGTGTCTGTACCCC -3'

Sequencing Primer
(F):5'- TGTACACACCCGGGTTGG -3'
(R):5'- TGTCTGTACCCCCAAAACTGAGTG -3'
Posted On 2021-10-11