Incidental Mutation 'R5440:Fam186b'
ID 428606
Institutional Source Beutler Lab
Gene Symbol Fam186b
Ensembl Gene ENSMUSG00000078907
Gene Name family with sequence similarity 186, member B
Synonyms EG545136
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99168899-99193769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99171734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 838 (A838T)
Ref Sequence ENSEMBL: ENSMUSP00000104728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109100]
AlphaFold D3Z420
Predicted Effect possibly damaging
Transcript: ENSMUST00000109100
AA Change: A838T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: A838T

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G 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
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
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'- GTCTCCCCAAATCCAGGCTAAG -3'
(R):5'- CACATGAGCCTAGAAGTGGAAC -3'

Sequencing Primer
(F):5'- GGCTAAGCACCCACCCTTG -3'
(R):5'- TGGAACTAGGACACAGAGCCTC -3'
Posted On 2016-09-01