Incidental Mutation 'R3276:Fam133b'
ID258206
Institutional Source Beutler Lab
Gene Symbol Fam133b
Ensembl Gene ENSMUSG00000058503
Gene Namefamily with sequence similarity 133, member B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.439) question?
Stock #R3276 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location3543833-3570238 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3558522 bp
ZygosityHeterozygous
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]
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 0.0404 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 86,506,866 R1269H probably damaging Het
Ace A G 11: 105,976,702 E164G probably null Het
Als2 A T 1: 59,170,008 V1464E possibly damaging Het
Atox1 A G 11: 55,450,553 L52P possibly damaging Het
Btnl10 A G 11: 58,922,390 K282E probably benign Het
Cdkn3 T C 14: 46,771,477 probably benign Het
Col16a1 A G 4: 130,057,999 K72E probably damaging Het
Col6a5 G A 9: 105,911,107 R1565* probably null Het
Col6a6 T C 9: 105,786,230 H36R probably benign Het
Cyp4b1 T C 4: 115,625,850 N415D possibly damaging Het
Dennd4a G T 9: 64,888,993 R767L probably damaging Het
Dhcr24 T C 4: 106,561,239 F25L probably benign Het
Dhrs3 A G 4: 144,923,940 T219A probably benign Het
Dhx58 A G 11: 100,696,979 F584S probably damaging Het
Dmbt1 A G 7: 131,088,071 T715A probably benign Het
Eogt T A 6: 97,131,394 I229F probably benign Het
Ern2 T C 7: 122,180,964 T164A possibly damaging Het
Fbxl21 T A 13: 56,537,122 Y346* probably null Het
Fcgbp C A 7: 28,091,661 H782Q probably damaging Het
Gm11492 T C 11: 87,567,244 V148A possibly damaging Het
Gm5592 A G 7: 41,288,380 E362G probably benign Het
Golga3 T C 5: 110,201,998 probably benign Het
Gpatch2l A G 12: 86,244,315 T91A possibly damaging Het
Hsp90aa1 T A 12: 110,695,680 M1L possibly damaging Het
Hsp90aa1 C A 12: 110,695,681 probably null Het
Itgad C A 7: 128,190,981 H651N possibly damaging Het
Itgav A G 2: 83,776,542 D409G probably damaging Het
Kcnt2 A G 1: 140,609,639 N1119S probably benign Het
Klhl32 T C 4: 24,682,063 I207V probably benign Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Lhfpl5 T C 17: 28,579,946 I143T possibly damaging Het
Lrrk1 T C 7: 66,305,521 K431E possibly damaging Het
Mag C T 7: 30,901,648 probably null Het
Maml3 A T 3: 51,856,930 N204K possibly damaging Het
Mrpl19 T C 6: 81,964,066 S115G probably damaging Het
Mthfd1l G C 10: 4,148,025 G954A probably damaging Het
Mut A G 17: 40,958,872 probably null Het
Myo19 A G 11: 84,892,175 I172V probably benign Het
Naca T C 10: 128,040,661 probably benign Het
Nfatc2 T C 2: 168,506,994 N638D possibly damaging Het
Nsun6 A G 2: 15,009,404 probably benign Het
Olfr1412 A G 1: 92,588,813 N161S probably benign Het
Olfr584 C A 7: 103,085,750 D72E probably damaging Het
Olfr913 T A 9: 38,594,643 C141S probably damaging Het
Padi6 A G 4: 140,735,389 L307P probably damaging Het
Pafah1b1 G A 11: 74,690,232 S57F probably damaging Het
Prcd A G 11: 116,659,811 E103G possibly damaging Het
Prkx A T X: 77,771,275 F260I probably damaging Het
Rad54l2 A G 9: 106,753,943 probably null Het
Ranbp1 T C 16: 18,247,429 probably benign Het
Rb1cc1 T A 1: 6,249,366 M1003K probably benign Het
Scap A T 9: 110,374,025 M256L probably benign Het
Sema4c C T 1: 36,549,879 R722H possibly damaging Het
Sgk1 C T 10: 21,996,601 R171W probably damaging Het
Spata7 A G 12: 98,637,598 N75D possibly damaging Het
Tmem120b T A 5: 123,114,104 I146N probably damaging Het
Ttc23l A G 15: 10,547,232 F99L possibly damaging Het
Ube3a T A 7: 59,276,519 C348* probably null Het
Ubr4 T A 4: 139,421,855 D1777E probably benign Het
Unc79 C A 12: 103,113,217 D1880E probably damaging Het
Usp36 C T 11: 118,276,759 probably null Het
Zswim9 T C 7: 13,277,270 T51A possibly damaging Het
Other mutations in Fam133b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Fam133b APN 5 3564242 splice site probably benign
IGL03026:Fam133b APN 5 3559646 utr 3 prime probably benign
IGL03218:Fam133b APN 5 3554684 nonsense probably null
R0433:Fam133b UTSW 5 3558560 splice site probably benign
R1299:Fam133b UTSW 5 3554626 splice site probably benign
R3176:Fam133b UTSW 5 3558522 missense probably damaging 1.00
R3705:Fam133b UTSW 5 3561034 splice site probably benign
R4722:Fam133b UTSW 5 3543949 critical splice donor site probably null
R4799:Fam133b UTSW 5 3557815 missense probably damaging 0.99
R6151:Fam133b UTSW 5 3559133 missense probably null
R6709:Fam133b UTSW 5 3569059 utr 3 prime probably benign
R6835:Fam133b UTSW 5 3554732 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGTATGTGTCATGCCCACCC -3'
(R):5'- AAACTTTTGCTCACCCTACCAG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGAAGGTGG -3'
(R):5'- AACTTTTGCTCACCCTACCAGATTTC -3'
Posted On2015-01-23