Incidental Mutation 'R9653:Fam186b'
ID 727229
Institutional Source Beutler Lab
Gene Symbol Fam186b
Ensembl Gene ENSMUSG00000078907
Gene Name family with sequence similarity 186, member B
Synonyms EG545136
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9653 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 99168899-99193769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99177616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 570 (A570V)
Ref Sequence ENSEMBL: ENSMUSP00000104728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109100] [ENSMUST00000230608]
AlphaFold D3Z420
Predicted Effect probably damaging
Transcript: ENSMUST00000109100
AA Change: A570V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: A570V

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
Predicted Effect probably benign
Transcript: ENSMUST00000230608
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,243,741 (GRCm39) P1868L probably benign Het
Abcc1 T C 16: 14,214,257 (GRCm39) Y191H probably damaging Het
Adamtsl5 C T 10: 80,180,763 (GRCm39) G100R probably damaging Het
Adgrg5 C T 8: 95,663,864 (GRCm39) P235S Het
Anks1b T G 10: 90,346,524 (GRCm39) L608R probably damaging Het
Ano10 C G 9: 122,080,221 (GRCm39) A597P possibly damaging Het
Calb2 T C 8: 110,881,374 (GRCm39) M58V probably benign Het
Ccdc180 T C 4: 45,923,495 (GRCm39) I1092T probably damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Chmp2a A T 7: 12,766,456 (GRCm39) F129I probably damaging Het
Clasp2 T A 9: 113,670,993 (GRCm39) W365R probably benign Het
Col12a1 T C 9: 79,584,556 (GRCm39) K1344R probably benign Het
Col3a1 A G 1: 45,360,728 (GRCm39) I53V unknown Het
Coro2b T C 9: 62,335,259 (GRCm39) Y309C probably damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Crygs T A 16: 22,625,304 (GRCm39) T46S probably benign Het
Ctbp2 C G 7: 132,615,933 (GRCm39) R334P probably damaging Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dhdh T C 7: 45,128,551 (GRCm39) D209G probably damaging Het
Dnah7b T C 1: 46,252,544 (GRCm39) V1742A possibly damaging Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dscaml1 T C 9: 45,643,466 (GRCm39) probably null Het
Eps8l1 A T 7: 4,481,886 (GRCm39) K704M unknown Het
Fgd4 T A 16: 16,254,461 (GRCm39) H524L probably benign Het
Fktn T A 4: 53,731,273 (GRCm39) F103I probably benign Het
Gcc2 T C 10: 58,110,822 (GRCm39) M1001T possibly damaging Het
Gm4847 T C 1: 166,467,582 (GRCm39) S205G possibly damaging Het
Grid2 A T 6: 63,907,968 (GRCm39) N203Y possibly damaging Het
Hif3a G A 7: 16,782,641 (GRCm39) A308V probably damaging Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Igfn1 G A 1: 135,883,323 (GRCm39) Q2728* probably null Het
Ighv5-16 C A 12: 113,802,313 (GRCm39) K62N possibly damaging Het
Ip6k3 A T 17: 27,367,588 (GRCm39) Y203N possibly damaging Het
Itga2 G A 13: 115,020,991 (GRCm39) P120L probably benign Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Kcnj3 G A 2: 55,484,864 (GRCm39) V321M probably damaging Het
Kmt2c A G 5: 25,507,819 (GRCm39) L3206P probably damaging Het
Krtap5-4 T C 7: 141,857,908 (GRCm39) C193R unknown Het
Large1 G T 8: 73,564,106 (GRCm39) H553Q probably benign Het
Lrfn5 T A 12: 61,890,418 (GRCm39) V569D probably damaging Het
Luzp2 A G 7: 54,702,580 (GRCm39) T48A probably damaging Het
Lypd6 A T 2: 50,080,758 (GRCm39) T149S probably benign Het
Map3k1 T C 13: 111,890,296 (GRCm39) N1301S possibly damaging Het
Ndufv2 C T 17: 66,396,251 (GRCm39) W91* probably null Het
Nisch A T 14: 30,893,628 (GRCm39) V1315E probably damaging Het
Npas1 T C 7: 16,190,146 (GRCm39) I467V probably benign Het
Nucb1 A G 7: 45,144,202 (GRCm39) M337T probably benign Het
Oog3 T G 4: 143,884,489 (GRCm39) R482S probably benign Het
Or10d4b T C 9: 39,535,154 (GRCm39) L243P probably damaging Het
Or4f14c A T 2: 111,941,261 (GRCm39) M112K probably damaging Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or56a42-ps1 A T 7: 104,775,985 (GRCm39) N164K probably benign Het
Padi2 T C 4: 140,662,036 (GRCm39) probably null Het
Pam C T 1: 97,768,469 (GRCm39) V660M possibly damaging Het
Phc2 C T 4: 128,641,012 (GRCm39) L700F probably damaging Het
Plekha1 T C 7: 130,479,494 (GRCm39) V4A possibly damaging Het
Rai1 A G 11: 60,080,142 (GRCm39) E1402G probably benign Het
Recql5 G A 11: 115,788,032 (GRCm39) A429V probably benign Het
Rere A G 4: 150,516,010 (GRCm39) N101S probably benign Het
Robo1 T G 16: 72,821,330 (GRCm39) S1357A possibly damaging Het
Rsl1 T A 13: 67,330,106 (GRCm39) Y185N probably damaging Het
Rsph3a T C 17: 8,165,074 (GRCm39) S145P possibly damaging Het
Sall1 T C 8: 89,757,506 (GRCm39) E866G probably damaging Het
Sall3 A T 18: 81,016,228 (GRCm39) S567T probably benign Het
Sap30 G A 8: 57,938,156 (GRCm39) Q154* probably null Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Scn8a A G 15: 100,937,947 (GRCm39) E1772G probably damaging Het
Scube3 C T 17: 28,375,772 (GRCm39) A169V probably damaging Het
Sema6c T C 3: 95,080,525 (GRCm39) S940P probably benign Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Shisal2b A G 13: 105,000,296 (GRCm39) probably benign Het
Skp1 A G 11: 52,134,514 (GRCm39) T82A possibly damaging Het
Slc39a14 G T 14: 70,547,248 (GRCm39) T366K probably damaging Het
Snrnp200 G T 2: 127,067,959 (GRCm39) V819L probably damaging Het
Sntg1 T A 1: 8,433,749 (GRCm39) T501S unknown Het
Srsf12 T C 4: 33,231,249 (GRCm39) S253P possibly damaging Het
Sycp2l A G 13: 41,295,381 (GRCm39) S315G probably benign Het
Tars2 T C 3: 95,655,379 (GRCm39) Y337C probably damaging Het
Thbs4 T C 13: 92,898,022 (GRCm39) D599G probably benign Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Tmem255b T A 8: 13,506,005 (GRCm39) V204E probably damaging Het
Usp24 T A 4: 106,204,564 (GRCm39) M261K probably benign Het
Utrn T A 10: 12,497,123 (GRCm39) I2429F probably benign Het
Utrn C T 10: 12,539,189 (GRCm39) A1943T probably benign Het
Vmn2r85 A T 10: 130,261,694 (GRCm39) D214E probably damaging Het
Wdr81 G T 11: 75,340,213 (GRCm39) P183T Het
Zfp28 G A 7: 6,395,623 (GRCm39) R134H Het
Zfp532 T A 18: 65,756,308 (GRCm39) D80E possibly damaging Het
Zfyve26 T C 12: 79,334,418 (GRCm39) D200G 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
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
R9727:Fam186b UTSW 15 99,171,669 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACCTTGTCCTTAGGTGTCCC -3'
(R):5'- CTTCAGCGGCAGAAGAAGTG -3'

Sequencing Primer
(F):5'- TTGCTGCAGAGAGACCTGG -3'
(R):5'- AAGAAGTGGGCCCTGCTG -3'
Posted On 2022-10-06