Incidental Mutation 'R3176:Fam133b'
ID 475988
Institutional Source Beutler Lab
Gene Symbol Fam133b
Ensembl Gene ENSMUSG00000058503
Gene Name family with sequence similarity 133, member B
Synonyms 5830415L20Rik, 2900022K02Rik
MMRRC Submission 040614-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R3176 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3593833-3620238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3608522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 84 (N84I)
Ref Sequence ENSEMBL: ENSMUSP00000142744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115527] [ENSMUST00000197082] [ENSMUST00000199666]
AlphaFold Q9CVI2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083110
Predicted Effect probably damaging
Transcript: ENSMUST00000115527
AA Change: N84I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111189
Gene: ENSMUSG00000058503
AA Change: N84I

DomainStartEndE-ValueType
coiled coil region 40 82 N/A INTRINSIC
low complexity region 85 141 N/A INTRINSIC
low complexity region 145 166 N/A INTRINSIC
low complexity region 218 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196499
Predicted Effect probably damaging
Transcript: ENSMUST00000197082
AA Change: N84I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142744
Gene: ENSMUSG00000058503
AA Change: N84I

DomainStartEndE-ValueType
coiled coil region 40 82 N/A INTRINSIC
low complexity region 85 158 N/A INTRINSIC
low complexity region 201 227 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198598
Predicted Effect possibly damaging
Transcript: ENSMUST00000199666
AA Change: N84I

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143004
Gene: ENSMUSG00000058503
AA Change: N84I

DomainStartEndE-ValueType
coiled coil region 40 82 N/A INTRINSIC
low complexity region 86 109 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,233,495 (GRCm39) R1269H probably damaging Het
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Cyp4b1 T C 4: 115,483,047 (GRCm39) N415D possibly damaging Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Dtx3l A G 16: 35,752,543 (GRCm39) S688P probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Ern2 T C 7: 121,780,187 (GRCm39) T164A possibly damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mrpl19 T C 6: 81,941,047 (GRCm39) S115G probably damaging Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Nfatc2 T C 2: 168,348,914 (GRCm39) N638D possibly damaging Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Fam133b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Fam133b APN 5 3,614,242 (GRCm39) splice site probably benign
IGL03026:Fam133b APN 5 3,609,646 (GRCm39) utr 3 prime probably benign
IGL03218:Fam133b APN 5 3,604,684 (GRCm39) nonsense probably null
R0433:Fam133b UTSW 5 3,608,560 (GRCm39) splice site probably benign
R1299:Fam133b UTSW 5 3,604,626 (GRCm39) splice site probably benign
R3276:Fam133b UTSW 5 3,608,522 (GRCm39) missense probably damaging 1.00
R3705:Fam133b UTSW 5 3,611,034 (GRCm39) splice site probably benign
R4722:Fam133b UTSW 5 3,593,949 (GRCm39) critical splice donor site probably null
R4799:Fam133b UTSW 5 3,607,815 (GRCm39) missense probably damaging 0.99
R6151:Fam133b UTSW 5 3,609,133 (GRCm39) missense probably null
R6709:Fam133b UTSW 5 3,619,059 (GRCm39) utr 3 prime probably benign
R6835:Fam133b UTSW 5 3,604,732 (GRCm39) missense possibly damaging 0.94
R8056:Fam133b UTSW 5 3,615,744 (GRCm39) missense unknown
Predicted Primers
Posted On 2017-05-11