Incidental Mutation 'IGL02375:Fam71b'
ID291068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam71b
Ensembl Gene ENSMUSG00000020401
Gene Namefamily with sequence similarity 71, member B
SynonymsOTTMUSG00000005491
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02375
Quality Score
Status
Chromosome11
Chromosomal Location46396559-46407982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 46406552 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 228 (V228L)
Ref Sequence ENSEMBL: ENSMUSP00000055079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063166]
Predicted Effect probably damaging
Transcript: ENSMUST00000063166
AA Change: V228L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: V228L

DomainStartEndE-ValueType
Pfam:DUF3699 120 192 1.2e-32 PFAM
low complexity region 241 361 N/A INTRINSIC
low complexity region 497 523 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
SCOP:d1g7sa3 586 650 1e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139280
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F07Rik A G 2: 173,522,703 M14V probably benign Het
1700034J05Rik T A 6: 146,953,315 K76N possibly damaging Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Epn2 A G 11: 61,519,671 V512A probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grhl2 T C 15: 37,291,577 V303A probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mios T A 6: 8,222,598 F511I probably benign Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Rgn C T X: 20,550,461 S28L probably damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in Fam71b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Fam71b APN 11 46405397 nonsense probably null
IGL02571:Fam71b APN 11 46405245 missense probably damaging 0.99
R0013:Fam71b UTSW 11 46406804 missense unknown
R1902:Fam71b UTSW 11 46407011 missense probably benign 0.44
R1985:Fam71b UTSW 11 46407866 makesense probably null
R2079:Fam71b UTSW 11 46405107 missense probably benign 0.14
R2151:Fam71b UTSW 11 46405331 nonsense probably null
R2857:Fam71b UTSW 11 46405212 missense probably damaging 1.00
R2859:Fam71b UTSW 11 46405212 missense probably damaging 1.00
R3807:Fam71b UTSW 11 46404953 missense possibly damaging 0.77
R4232:Fam71b UTSW 11 46407405 missense possibly damaging 0.51
R4342:Fam71b UTSW 11 46407216 missense possibly damaging 0.67
R4679:Fam71b UTSW 11 46404813 missense possibly damaging 0.68
R5119:Fam71b UTSW 11 46407036 missense probably damaging 1.00
R5207:Fam71b UTSW 11 46405163 missense probably benign 0.13
R5540:Fam71b UTSW 11 46404888 missense probably damaging 0.99
R6618:Fam71b UTSW 11 46407299 missense probably damaging 1.00
R6862:Fam71b UTSW 11 46407591 missense possibly damaging 0.78
R7036:Fam71b UTSW 11 46407408 missense
R7489:Fam71b UTSW 11 46407441 missense
Z1088:Fam71b UTSW 11 46407723 missense possibly damaging 0.87
Posted On2015-04-16