Incidental Mutation 'R0515:Fam46b'
ID48180
Institutional Source Beutler Lab
Gene Symbol Fam46b
Ensembl Gene ENSMUSG00000046694
Gene Namefamily with sequence similarity 46, member B
Synonyms
MMRRC Submission 038709-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #R0515 (G1)
Quality Score95
Status Validated
Chromosome4
Chromosomal Location133480132-133487938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133486139 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 107 (H107L)
Ref Sequence ENSEMBL: ENSMUSP00000056015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051676] [ENSMUST00000125541]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051676
AA Change: H107L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056015
Gene: ENSMUSG00000046694
AA Change: H107L

DomainStartEndE-ValueType
low complexity region 15 44 N/A INTRINSIC
DUF1693 52 372 2.52e-218 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123169
Predicted Effect probably benign
Transcript: ENSMUST00000125541
SMART Domains Protein: ENSMUSP00000129613
Gene: ENSMUSG00000056596

DomainStartEndE-ValueType
low complexity region 20 54 N/A INTRINSIC
low complexity region 72 124 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132840
Meta Mutation Damage Score 0.4847 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,740,488 V515A probably damaging Het
App C T 16: 85,103,344 probably benign Het
Arhgap11a G A 2: 113,837,471 T395I possibly damaging Het
Arhgef38 T G 3: 133,149,540 H262P probably damaging Het
Cd96 A G 16: 46,063,905 probably benign Het
Cfap57 A G 4: 118,620,402 S2P probably damaging Het
Cltc A G 11: 86,709,039 S948P probably benign Het
Cyp3a41a A T 5: 145,718,000 H30Q probably damaging Het
Dcp2 C T 18: 44,399,731 L105F probably benign Het
Dennd4c T C 4: 86,813,466 V887A possibly damaging Het
Gm11360 T A 13: 27,956,160 D2E probably damaging Het
Gpank1 G T 17: 35,123,499 A149S probably damaging Het
Gtf2i C A 5: 134,242,919 S792I probably damaging Het
Hvcn1 A G 5: 122,233,519 N41D probably damaging Het
Klk1b5 A G 7: 44,218,533 Y43C probably damaging Het
Lmtk2 A G 5: 144,174,991 D843G possibly damaging Het
Lrriq1 A T 10: 103,068,968 probably null Het
Mapk8ip1 A T 2: 92,387,356 I198N possibly damaging Het
Mill1 T C 7: 18,264,873 V336A probably benign Het
Mroh7 T A 4: 106,691,664 M1001L probably benign Het
Nfe2 T A 15: 103,249,427 T46S probably null Het
Olfr1500 T C 19: 13,827,821 S192G probably damaging Het
Olfr889 T C 9: 38,116,017 S74P probably damaging Het
Parp4 T C 14: 56,613,667 V709A probably damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Prex2 A T 1: 11,199,874 Q1261L probably damaging Het
Prl8a8 T A 13: 27,508,367 I214L probably damaging Het
Rictor C T 15: 6,769,301 T343M probably damaging Het
Sema6a G A 18: 47,290,045 probably null Het
Siglecf T C 7: 43,355,631 probably null Het
Slco1b2 T C 6: 141,669,410 F347S possibly damaging Het
Sox13 A T 1: 133,383,719 Y592N probably damaging Het
Synj1 C T 16: 90,994,022 A84T possibly damaging Het
Trpv5 T A 6: 41,674,211 probably benign Het
Tshz1 A G 18: 84,015,965 V106A probably benign Het
Other mutations in Fam46b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Fam46b APN 4 133486522 unclassified probably null
IGL01871:Fam46b APN 4 133486309 missense possibly damaging 0.89
IGL02218:Fam46b APN 4 133486151 missense probably damaging 1.00
IGL02222:Fam46b APN 4 133486553 missense probably damaging 0.99
R0345:Fam46b UTSW 4 133486211 missense probably benign 0.01
R0843:Fam46b UTSW 4 133486531 missense probably damaging 1.00
R1240:Fam46b UTSW 4 133486504 missense probably benign 0.01
R2042:Fam46b UTSW 4 133486613 missense possibly damaging 0.82
R4328:Fam46b UTSW 4 133486603 nonsense probably null
R4811:Fam46b UTSW 4 133486370 missense probably benign 0.01
R4868:Fam46b UTSW 4 133486082 critical splice acceptor site probably null
R5056:Fam46b UTSW 4 133480438 missense possibly damaging 0.91
R6360:Fam46b UTSW 4 133486756 missense probably damaging 0.99
R6454:Fam46b UTSW 4 133480409 missense probably damaging 1.00
R7017:Fam46b UTSW 4 133486234 missense possibly damaging 0.95
R7186:Fam46b UTSW 4 133486207 missense probably damaging 1.00
R7315:Fam46b UTSW 4 133487084 missense probably damaging 1.00
Z1176:Fam46b UTSW 4 133486682 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCTTCTCCAGATTGGCAAATCG -3'
(R):5'- GCACACTTTGACCAGCTTCTGCAC -3'

Sequencing Primer
(F):5'- TTGGCAAATCGAGGCTTAGC -3'
(R):5'- AGCTTCTGCACGTAGGCTTC -3'
Posted On2013-06-12