Incidental Mutation 'R5596:Fam186b'
ID 437846
Institutional Source Beutler Lab
Gene Symbol Fam186b
Ensembl Gene ENSMUSG00000078907
Gene Name family with sequence similarity 186, member B
Synonyms EG545136
MMRRC Submission 043148-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5596 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99168899-99193769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99169170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 926 (S926T)
Ref Sequence ENSEMBL: ENSMUSP00000104728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109100]
AlphaFold D3Z420
Predicted Effect possibly damaging
Transcript: ENSMUST00000109100
AA Change: S926T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: S926T

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,000,972 (GRCm39) M1503V possibly damaging Het
Abraxas1 A T 5: 100,966,403 (GRCm39) V53D probably damaging Het
Bub1b T C 2: 118,461,463 (GRCm39) S672P probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Cacng7 A T 7: 3,415,420 (GRCm39) I262F probably benign Het
Capzb T G 4: 139,006,738 (GRCm39) probably benign Het
Ccdc149 A G 5: 52,561,493 (GRCm39) V229A probably damaging Het
Cfap69 A G 5: 5,676,020 (GRCm39) L225P probably damaging Het
Cftr A G 6: 18,268,095 (GRCm39) T685A probably benign Het
Col12a1 G A 9: 79,611,041 (GRCm39) T177M probably damaging Het
Creb3l3 T G 10: 80,920,881 (GRCm39) D383A probably benign Het
Cyp2j8 T A 4: 96,395,578 (GRCm39) I16F probably benign Het
Dnah5 G T 15: 28,343,754 (GRCm39) A2385S probably damaging Het
Enox1 A G 14: 77,816,493 (GRCm39) I158V probably benign Het
Erich3 A T 3: 154,433,033 (GRCm39) T139S probably damaging Het
Gjd2 C A 2: 113,841,965 (GRCm39) V171F possibly damaging Het
Helz2 A T 2: 180,879,082 (GRCm39) probably benign Het
Herc1 T TTN 9: 66,341,345 (GRCm39) probably benign Het
Impg1 A T 9: 80,252,500 (GRCm39) V483E probably benign Het
Irx4 A G 13: 73,415,799 (GRCm39) N196S probably damaging Het
Kcnip1 T C 11: 33,580,597 (GRCm39) D213G probably damaging Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Med12l T A 3: 59,159,771 (GRCm39) N1273K probably benign Het
Musk T C 4: 58,373,036 (GRCm39) C654R probably damaging Het
Nlrp4d A T 7: 10,115,951 (GRCm39) S274T noncoding transcript Het
Omd A G 13: 49,745,814 (GRCm39) H408R probably benign Het
Pbld2 C T 10: 62,907,791 (GRCm39) A219V probably damaging Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Pramel32 C T 4: 88,548,292 (GRCm39) E38K probably damaging Het
Ptpn1 T C 2: 167,816,683 (GRCm39) I246T probably damaging Het
Sap18b G T 8: 96,551,998 (GRCm39) A3S unknown Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Sstr4 G T 2: 148,237,652 (GRCm39) V88F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tmcc2 T C 1: 132,288,221 (GRCm39) N489D probably damaging Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Tnxb T A 17: 34,907,778 (GRCm39) V1274E probably damaging Het
Ube3b T A 5: 114,544,221 (GRCm39) probably null Het
Vwa5a A T 9: 38,633,874 (GRCm39) I26F probably damaging 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
R0457:Fam186b UTSW 15 99,169,166 (GRCm39) missense probably benign 0.02
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
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'- TTCCCAAAGTTCTGGAACAACTTC -3'
(R):5'- CTGTGTGCTCAGGTCAAGTC -3'

Sequencing Primer
(F):5'- CAACTTCGCAACAACTGTGTGTG -3'
(R):5'- GTCAAGTCTGAGCCCAGC -3'
Posted On 2016-10-26