Incidental Mutation 'R4342:Fam71b'
ID 324185
Institutional Source Beutler Lab
Gene Symbol Fam71b
Ensembl Gene ENSMUSG00000020401
Gene Name family with sequence similarity 71, member B
Synonyms OTTMUSG00000005491
MMRRC Submission 041100-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 46396559-46407982 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46407216 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 449 (D449G)
Ref Sequence ENSEMBL: ENSMUSP00000055079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063166]
AlphaFold Q5STT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000063166
AA Change: D449G

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: D449G

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,516,495 C488R probably benign Het
Adamts19 A T 18: 58,942,500 H489L probably damaging Het
Ahnak T C 19: 9,012,083 V3577A possibly damaging Het
Arhgap44 G A 11: 65,012,061 R401* probably null Het
Cbx3-ps2 T C 13: 65,559,688 noncoding transcript Het
Ccdc174 T A 6: 91,885,356 L86* probably null Het
Cd38 A C 5: 43,869,089 I72L probably benign Het
Cers4 T C 8: 4,521,223 L264P probably damaging Het
Cldn23 A G 8: 35,825,498 S279P probably benign Het
Cth T A 3: 157,924,976 T19S probably damaging Het
Dnajc22 T A 15: 99,104,464 L330* probably null Het
Epas1 G A 17: 86,823,800 C336Y probably damaging Het
Evi5l A C 8: 4,183,492 probably benign Het
Fbxl2 A T 9: 113,985,306 H272Q probably benign Het
Fgd3 C T 13: 49,273,709 probably null Het
Fhdc1 C A 3: 84,444,826 V1031F probably benign Het
Fscn1 T C 5: 142,972,021 Y308H probably damaging Het
Gm5878 G A 6: 85,125,651 R31* probably null Het
Gm996 A G 2: 25,579,108 Y264H possibly damaging Het
Gpatch2l T C 12: 86,260,679 V277A probably benign Het
Greb1l T A 18: 10,544,561 M1385K probably benign Het
Grin2a A G 16: 9,653,589 I605T possibly damaging Het
Hoxc11 C T 15: 102,954,671 S49F probably damaging Het
Igf2r C T 17: 12,709,511 E982K possibly damaging Het
Ighv10-3 A T 12: 114,523,504 M99K possibly damaging Het
Itgb4 A T 11: 115,988,729 T614S probably benign Het
Kcnv1 G A 15: 45,114,444 T66M probably damaging Het
Mast4 A G 13: 102,774,248 V461A probably damaging Het
Mcts2 G A 2: 152,687,664 V132M probably damaging Het
Mical3 C A 6: 120,934,838 E1083* probably null Het
Nbeal2 A G 9: 110,631,793 probably benign Het
Nek4 T C 14: 30,953,906 V66A probably damaging Het
Nfasc A G 1: 132,631,705 F229S probably damaging Het
Nhsl1 T C 10: 18,526,689 F1221S probably damaging Het
Nr1d1 T G 11: 98,771,814 K118Q probably damaging Het
Ntm T C 9: 29,109,431 E164G probably damaging Het
Olfr576 A G 7: 102,966,024 N308S probably benign Het
Parp1 G T 1: 180,587,329 A411S probably benign Het
Pds5b A G 5: 150,800,854 T1301A probably benign Het
Pkhd1 A G 1: 20,058,617 V3954A probably benign Het
Pkp4 A T 2: 59,350,608 K739I probably damaging Het
Pla2g4e T C 2: 120,186,446 probably benign Het
Plod3 G C 5: 136,988,146 A50P probably benign Het
Ralgds T C 2: 28,552,095 L96P probably damaging Het
Rbm6 A T 9: 107,847,247 probably benign Het
Scp2d1 T C 2: 144,824,167 L142P probably damaging Het
Setd5 AT ATT 6: 113,111,320 probably benign Het
Sgf29 G A 7: 126,671,777 C143Y probably damaging Het
Slc22a12 A G 19: 6,541,099 I156T probably benign Het
Stambpl1 A G 19: 34,234,046 Q169R probably benign Het
Tex2 T C 11: 106,567,006 probably benign Het
Trip11 A T 12: 101,884,316 I878N probably damaging Het
Ttf1 C T 2: 29,065,476 S284L probably benign Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,139,723 V195E probably damaging Het
Vmn1r14 T A 6: 57,233,823 Y85N probably benign Het
Wdyhv1 T C 15: 58,152,714 S120P probably benign Het
Zfp131 C T 13: 119,776,018 R268H probably damaging Het
Other mutations in Fam71b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Fam71b APN 11 46405397 nonsense probably null
IGL02375:Fam71b APN 11 46406552 missense probably damaging 0.99
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
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
R7809:Fam71b UTSW 11 46407804 missense
R7822:Fam71b UTSW 11 46404903 missense
R7996:Fam71b UTSW 11 46405062 missense
R8984:Fam71b UTSW 11 46404868 nonsense probably null
R9324:Fam71b UTSW 11 46404983 missense
Z1088:Fam71b UTSW 11 46407723 missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GCCATGATAGGATCAGCTGC -3'
(R):5'- TGGAACTGTGGCGACTCATG -3'

Sequencing Primer
(F):5'- TAGGATCAGCTGCCAAAGATC -3'
(R):5'- TGTGGCGACTCATGCCTGTC -3'
Posted On 2015-06-24