Incidental Mutation 'R7237:BB014433'
ID 562900
Institutional Source Beutler Lab
Gene Symbol BB014433
Ensembl Gene ENSMUSG00000049008
Gene Name expressed sequence BB014433
Synonyms
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 15091446-15096078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15091765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 363 (V363L)
Ref Sequence ENSEMBL: ENSMUSP00000053487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]
AlphaFold Q8C5R5
Predicted Effect probably benign
Transcript: ENSMUST00000050493
AA Change: V363L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
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 benign
Transcript: ENSMUST00000179941
AA Change: V363L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q probably damaging Het
Other mutations in BB014433
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:BB014433 APN 8 15,092,510 (GRCm39) missense probably benign 0.03
IGL01595:BB014433 APN 8 15,092,499 (GRCm39) splice site probably null
IGL02056:BB014433 APN 8 15,092,435 (GRCm39) nonsense probably null
IGL02470:BB014433 APN 8 15,092,803 (GRCm39) missense unknown
R0359:BB014433 UTSW 8 15,092,540 (GRCm39) nonsense probably null
R1066:BB014433 UTSW 8 15,092,185 (GRCm39) missense probably damaging 1.00
R1837:BB014433 UTSW 8 15,092,629 (GRCm39) missense unknown
R1838:BB014433 UTSW 8 15,092,629 (GRCm39) missense unknown
R2227:BB014433 UTSW 8 15,091,717 (GRCm39) missense probably benign 0.34
R4508:BB014433 UTSW 8 15,092,095 (GRCm39) missense possibly damaging 0.83
R4882:BB014433 UTSW 8 15,092,016 (GRCm39) missense probably benign 0.05
R4996:BB014433 UTSW 8 15,092,166 (GRCm39) missense probably benign 0.10
R5988:BB014433 UTSW 8 15,091,854 (GRCm39) missense probably damaging 1.00
R6051:BB014433 UTSW 8 15,092,179 (GRCm39) missense possibly damaging 0.83
R6483:BB014433 UTSW 8 15,092,208 (GRCm39) missense probably benign 0.10
R6505:BB014433 UTSW 8 15,092,304 (GRCm39) missense probably benign 0.10
R7771:BB014433 UTSW 8 15,092,395 (GRCm39) missense probably damaging 1.00
R7847:BB014433 UTSW 8 15,092,160 (GRCm39) small deletion probably benign
R7859:BB014433 UTSW 8 15,092,160 (GRCm39) small deletion probably benign
R8377:BB014433 UTSW 8 15,092,160 (GRCm39) small deletion probably benign
R8560:BB014433 UTSW 8 15,092,160 (GRCm39) small deletion probably benign
R8993:BB014433 UTSW 8 15,092,101 (GRCm39) missense probably damaging 1.00
R9204:BB014433 UTSW 8 15,092,623 (GRCm39) missense unknown
R9446:BB014433 UTSW 8 15,091,810 (GRCm39) small deletion probably benign
R9542:BB014433 UTSW 8 15,092,160 (GRCm39) small deletion probably benign
X0066:BB014433 UTSW 8 15,092,833 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATGCACAGGTTGTTGTAGTGCC -3'
(R):5'- ACCTCCAAAGCTGTGTGCAG -3'

Sequencing Primer
(F):5'- CACAGGTTGTTGTAGTGCCAATAATG -3'
(R):5'- CAAAGCTGTGTGCAGAGGCC -3'
Posted On 2019-06-26