Incidental Mutation 'R0457:Fam186b'
ID 41251
Institutional Source Beutler Lab
Gene Symbol Fam186b
Ensembl Gene ENSMUSG00000078907
Gene Name family with sequence similarity 186, member B
Synonyms EG545136
MMRRC Submission 038657-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0457 (G1)
Quality Score 170
Status Not validated
Chromosome 15
Chromosomal Location 99168899-99193769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99169166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 927 (I927S)
Ref Sequence ENSEMBL: ENSMUSP00000104728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109100]
AlphaFold D3Z420
Predicted Effect probably benign
Transcript: ENSMUST00000109100
AA Change: I927S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: I927S

DomainStartEndE-ValueType
Blast:FBG 12 193 1e-19 BLAST
low complexity region 354 363 N/A INTRINSIC
low complexity region 478 493 N/A INTRINSIC
low complexity region 508 522 N/A INTRINSIC
low complexity region 789 810 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,844,054 (GRCm39) I249M possibly damaging Het
Adcy5 T C 16: 35,094,915 (GRCm39) S691P probably benign Het
Ajm1 G T 2: 25,468,358 (GRCm39) R518S possibly damaging Het
Aspscr1 A G 11: 120,568,444 (GRCm39) E12G probably benign Het
Atp2a2 T C 5: 122,607,777 (GRCm39) Q244R probably benign Het
Birc6 A G 17: 74,959,023 (GRCm39) M3818V probably benign Het
Birc6 C T 17: 74,969,620 (GRCm39) A4230V probably damaging Het
Bub1b T C 2: 118,440,340 (GRCm39) F148S probably damaging Het
C1ra T C 6: 124,499,712 (GRCm39) S633P probably benign Het
Cacna2d1 A G 5: 16,472,414 (GRCm39) T274A probably damaging Het
Cmya5 A G 13: 93,232,095 (GRCm39) W998R possibly damaging Het
Crbn T C 6: 106,758,018 (GRCm39) K404R probably benign Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Csmd1 C A 8: 16,551,407 (GRCm39) probably null Het
Defa-ps1 A T 8: 22,185,758 (GRCm39) noncoding transcript Het
Dnajc10 T A 2: 80,175,290 (GRCm39) V559D possibly damaging Het
Dock1 A T 7: 134,739,874 (GRCm39) E1423D possibly damaging Het
Dpf3 A T 12: 83,319,179 (GRCm39) S44T probably damaging Het
Dyrk3 A T 1: 131,064,094 (GRCm39) V31D possibly damaging Het
F5 T C 1: 164,021,769 (GRCm39) S1415P probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fer1l6 G A 15: 58,509,943 (GRCm39) probably null Het
Fndc7 G T 3: 108,783,861 (GRCm39) S249R probably benign Het
Ganab A G 19: 8,884,614 (GRCm39) E139G possibly damaging Het
Gbp5 A G 3: 142,213,518 (GRCm39) D478G probably damaging Het
Gm17324 T A 9: 78,355,580 (GRCm39) M1K probably null Het
Gtpbp6 T A 5: 110,254,608 (GRCm39) R126S probably damaging Het
Hapln4 G A 8: 70,541,122 (GRCm39) W385* probably null Het
Hmcn2 T A 2: 31,305,296 (GRCm39) probably null Het
Hsp90ab1 A G 17: 45,879,914 (GRCm39) V534A probably damaging Het
Kat6b C A 14: 21,720,598 (GRCm39) T1650K probably damaging Het
Kpna1 T A 16: 35,823,275 (GRCm39) D42E probably benign Het
Lrrc14b A G 13: 74,509,279 (GRCm39) M376T probably benign Het
Lrrc40 A G 3: 157,760,201 (GRCm39) probably null Het
Ltv1 T C 10: 13,067,887 (GRCm39) T34A probably benign Het
Mga T A 2: 119,746,969 (GRCm39) N373K probably damaging Het
Msh3 A T 13: 92,357,505 (GRCm39) M101K probably damaging Het
Mthfd2l T C 5: 91,168,065 (GRCm39) M320T possibly damaging Het
Mug1 G A 6: 121,838,514 (GRCm39) E506K probably benign Het
Ngb T C 12: 87,147,503 (GRCm39) D54G probably damaging Het
Ntrk1 A G 3: 87,699,014 (GRCm39) F84L probably benign Het
Or1j18 A T 2: 36,624,545 (GRCm39) I71F probably benign Het
Or52n2b T A 7: 104,566,180 (GRCm39) T108S probably benign Het
Phf12 T A 11: 77,908,994 (GRCm39) I358N possibly damaging Het
Plec A G 15: 76,061,801 (GRCm39) F2577S probably damaging Het
Polr1c T A 17: 46,558,689 (GRCm39) Y36F probably benign Het
Prkd1 A T 12: 50,413,155 (GRCm39) M672K probably damaging Het
Prob1 T C 18: 35,785,539 (GRCm39) Y905C probably damaging Het
Ptpn23 T A 9: 110,215,361 (GRCm39) H1433L possibly damaging Het
Rnf11 A T 4: 109,314,149 (GRCm39) L80Q probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Scgb2b7 A T 7: 31,403,437 (GRCm39) C90S possibly damaging Het
Slc4a9 T C 18: 36,668,471 (GRCm39) L710P probably damaging Het
Spire1 T A 18: 67,685,670 (GRCm39) I35F probably damaging Het
Sptbn2 T C 19: 4,795,966 (GRCm39) V1715A possibly damaging Het
St7 T C 6: 17,819,281 (GRCm39) F62L probably damaging Het
Svep1 C T 4: 58,118,136 (GRCm39) G862D probably damaging Het
Syne1 A T 10: 4,972,041 (GRCm39) M8789K probably damaging Het
Synpo2 A G 3: 122,906,421 (GRCm39) L965P probably damaging Het
Trhde A T 10: 114,284,167 (GRCm39) M772K probably benign Het
Ttn T A 2: 76,608,851 (GRCm39) K15976* probably null Het
Unc13a A C 8: 72,110,645 (GRCm39) probably null Het
Vcan T C 13: 89,851,318 (GRCm39) E1214G possibly damaging Het
Vmn1r29 T C 6: 58,285,072 (GRCm39) V264A probably benign Het
Vmn1r60 T A 7: 5,548,118 (GRCm39) probably benign Het
Wdr90 C T 17: 26,079,459 (GRCm39) R225H probably benign Het
Wnk1 G A 6: 119,946,293 (GRCm39) T620I probably damaging Het
Zan C T 5: 137,405,968 (GRCm39) probably benign Het
Zfp37 A T 4: 62,109,902 (GRCm39) C387* probably null Het
Zfp521 T C 18: 13,977,897 (GRCm39) T839A probably benign Het
Other mutations in Fam186b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Fam186b APN 15 99,178,199 (GRCm39) missense probably benign 0.00
IGL01729:Fam186b APN 15 99,178,132 (GRCm39) missense probably benign 0.02
IGL01948:Fam186b APN 15 99,178,327 (GRCm39) missense probably benign 0.00
IGL02133:Fam186b APN 15 99,171,584 (GRCm39) missense probably damaging 0.96
IGL03010:Fam186b APN 15 99,178,508 (GRCm39) missense possibly damaging 0.80
IGL03371:Fam186b APN 15 99,178,258 (GRCm39) missense probably benign 0.00
R0522:Fam186b UTSW 15 99,178,400 (GRCm39) missense probably benign 0.00
R0571:Fam186b UTSW 15 99,184,834 (GRCm39) missense probably benign 0.02
R0620:Fam186b UTSW 15 99,178,009 (GRCm39) missense probably benign 0.34
R1575:Fam186b UTSW 15 99,184,852 (GRCm39) missense probably benign 0.00
R1883:Fam186b UTSW 15 99,176,679 (GRCm39) missense probably damaging 0.96
R2144:Fam186b UTSW 15 99,178,538 (GRCm39) missense probably benign 0.00
R2267:Fam186b UTSW 15 99,183,524 (GRCm39) missense probably damaging 0.99
R2332:Fam186b UTSW 15 99,178,309 (GRCm39) missense probably benign 0.42
R2394:Fam186b UTSW 15 99,178,058 (GRCm39) missense probably benign 0.01
R3624:Fam186b UTSW 15 99,178,396 (GRCm39) missense probably benign 0.01
R4681:Fam186b UTSW 15 99,178,771 (GRCm39) missense probably benign 0.00
R4811:Fam186b UTSW 15 99,178,118 (GRCm39) missense probably benign 0.01
R4906:Fam186b UTSW 15 99,169,202 (GRCm39) missense probably damaging 0.99
R5028:Fam186b UTSW 15 99,178,682 (GRCm39) missense probably damaging 0.99
R5047:Fam186b UTSW 15 99,178,567 (GRCm39) missense probably damaging 1.00
R5295:Fam186b UTSW 15 99,181,755 (GRCm39) missense probably damaging 1.00
R5440:Fam186b UTSW 15 99,171,734 (GRCm39) missense possibly damaging 0.75
R5468:Fam186b UTSW 15 99,176,751 (GRCm39) missense possibly damaging 0.93
R5596:Fam186b UTSW 15 99,169,170 (GRCm39) missense possibly damaging 0.90
R5759:Fam186b UTSW 15 99,177,598 (GRCm39) missense probably benign 0.09
R6239:Fam186b UTSW 15 99,178,315 (GRCm39) missense probably benign
R7117:Fam186b UTSW 15 99,183,471 (GRCm39) missense probably damaging 0.98
R7141:Fam186b UTSW 15 99,181,773 (GRCm39) missense probably benign 0.03
R7223:Fam186b UTSW 15 99,177,718 (GRCm39) missense possibly damaging 0.77
R7301:Fam186b UTSW 15 99,176,629 (GRCm39) missense probably benign 0.00
R7441:Fam186b UTSW 15 99,177,970 (GRCm39) missense probably benign 0.00
R7614:Fam186b UTSW 15 99,184,867 (GRCm39) missense probably damaging 1.00
R7825:Fam186b UTSW 15 99,181,728 (GRCm39) missense not run
R7853:Fam186b UTSW 15 99,178,628 (GRCm39) missense probably damaging 1.00
R8340:Fam186b UTSW 15 99,177,595 (GRCm39) missense probably benign 0.02
R8523:Fam186b UTSW 15 99,177,613 (GRCm39) missense probably benign 0.00
R8821:Fam186b UTSW 15 99,178,733 (GRCm39) missense possibly damaging 0.69
R8939:Fam186b UTSW 15 99,177,223 (GRCm39) missense probably benign 0.00
R9016:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9018:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9305:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9341:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9343:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9343:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9345:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9346:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9450:Fam186b UTSW 15 99,183,425 (GRCm39) missense probably damaging 0.97
R9464:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9517:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9521:Fam186b UTSW 15 99,178,419 (GRCm39) missense probably benign 0.00
R9563:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9565:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9565:Fam186b UTSW 15 99,176,685 (GRCm39) missense probably damaging 1.00
R9568:Fam186b UTSW 15 99,176,571 (GRCm39) missense probably damaging 1.00
R9652:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9653:Fam186b UTSW 15 99,177,616 (GRCm39) missense probably damaging 0.99
R9727:Fam186b UTSW 15 99,171,669 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTGTGACCTTCAGCAATGAGACAG -3'
(R):5'- TGGCCGAAATGTTAGGCTAAGCAG -3'

Sequencing Primer
(F):5'- GAAAATAGAGTTTCCCAAAGTTCTGG -3'
(R):5'- TCAGGTCAAGTCTGAGCCC -3'
Posted On 2013-05-23