Incidental Mutation 'R1519:Fam186a'
ID 167320
Institutional Source Beutler Lab
Gene Symbol Fam186a
Ensembl Gene ENSMUSG00000045350
Gene Name family with sequence similarity 186, member A
Synonyms LOC380973, 1700030F18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99918348-99967061 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99947655 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 236 (S236L)
Ref Sequence ENSEMBL: ENSMUSP00000097783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100209]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000100209
AA Change: S236L
SMART Domains Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: S236L

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:FBG 44 222 4e-48 BLAST
coiled coil region 292 340 N/A INTRINSIC
low complexity region 423 443 N/A INTRINSIC
low complexity region 446 458 N/A INTRINSIC
low complexity region 632 644 N/A INTRINSIC
low complexity region 702 713 N/A INTRINSIC
internal_repeat_2 743 1156 1.05e-58 PROSPERO
internal_repeat_1 833 1270 7.71e-59 PROSPERO
low complexity region 1271 1285 N/A INTRINSIC
low complexity region 1289 1300 N/A INTRINSIC
low complexity region 1309 1323 N/A INTRINSIC
low complexity region 1327 1338 N/A INTRINSIC
low complexity region 1347 1361 N/A INTRINSIC
low complexity region 1365 1376 N/A INTRINSIC
low complexity region 1384 1395 N/A INTRINSIC
low complexity region 1403 1414 N/A INTRINSIC
low complexity region 1423 1437 N/A INTRINSIC
low complexity region 1441 1452 N/A INTRINSIC
low complexity region 1460 1471 N/A INTRINSIC
low complexity region 1479 1490 N/A INTRINSIC
low complexity region 1498 1509 N/A INTRINSIC
low complexity region 1518 1532 N/A INTRINSIC
low complexity region 1536 1547 N/A INTRINSIC
low complexity region 1555 1566 N/A INTRINSIC
low complexity region 1574 1585 N/A INTRINSIC
internal_repeat_1 1586 1981 7.71e-59 PROSPERO
internal_repeat_2 1737 2197 1.05e-58 PROSPERO
low complexity region 2367 2378 N/A INTRINSIC
low complexity region 2549 2564 N/A INTRINSIC
low complexity region 2644 2655 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180309
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
9230019H11Rik A G 10: 3,125,230 (GRCm38) noncoding transcript Het
9530077C05Rik T G 9: 22,430,375 (GRCm38) L114R probably benign Het
Abhd5 T C 9: 122,379,014 (GRCm38) probably null Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Actn1 T C 12: 80,205,078 (GRCm38) E75G probably damaging Het
Adam4 A T 12: 81,420,877 (GRCm38) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm38) R689W probably damaging Het
Anxa2 T C 9: 69,485,241 (GRCm38) I124T probably damaging Het
Aph1c T C 9: 66,833,265 (GRCm38) T10A probably benign Het
Arhgap40 T A 2: 158,546,801 (GRCm38) W552R probably benign Het
Baz2b C T 2: 59,948,254 (GRCm38) R754H possibly damaging Het
Blmh A G 11: 76,966,781 (GRCm38) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm38) L83F probably damaging Het
Cd163l1 G A 7: 140,228,156 (GRCm38) V747I probably benign Het
Cdh23 A T 10: 60,379,343 (GRCm38) Y1403N possibly damaging Het
Cic A T 7: 25,293,810 (GRCm38) probably null Het
Coro1b T A 19: 4,150,584 (GRCm38) V200D possibly damaging Het
Csl T A 10: 99,757,955 (GRCm38) E416V probably damaging Het
Cyp3a25 A G 5: 146,001,447 (GRCm38) probably null Het
Dennd2d T A 3: 106,492,559 (GRCm38) F266Y probably damaging Het
Dnah10 A G 5: 124,760,952 (GRCm38) E1072G probably damaging Het
Dnah6 T A 6: 73,049,048 (GRCm38) K3435N probably damaging Het
Dnah9 G A 11: 65,881,761 (GRCm38) A3715V probably damaging Het
Fam198b A G 3: 79,941,464 (GRCm38) N506D possibly damaging Het
Frs3 A G 17: 47,702,978 (GRCm38) T199A probably benign Het
Fsd1 A G 17: 55,993,870 (GRCm38) N243S probably benign Het
Gabra5 A C 7: 57,408,893 (GRCm38) L369R probably benign Het
Gins4 A G 8: 23,234,776 (GRCm38) V54A probably benign Het
Gli1 T C 10: 127,334,269 (GRCm38) E339G possibly damaging Het
Gm12185 A G 11: 48,907,767 (GRCm38) V633A probably damaging Het
Gm8251 A G 1: 44,056,970 (GRCm38) V1656A probably benign Het
Gm8765 G A 13: 50,700,407 (GRCm38) probably null Het
Gpr83 T A 9: 14,868,197 (GRCm38) C182S probably null Het
Gspt1 A G 16: 11,220,855 (GRCm38) V627A probably damaging Het
Heatr1 T C 13: 12,412,159 (GRCm38) C722R probably benign Het
Jak1 C T 4: 101,162,922 (GRCm38) R680Q probably damaging Het
Kif2c A G 4: 117,169,940 (GRCm38) V287A probably damaging Het
Kmo A G 1: 175,656,802 (GRCm38) E366G probably damaging Het
Kmo C T 1: 175,651,618 (GRCm38) P240L possibly damaging Het
Lepr A T 4: 101,789,344 (GRCm38) N824I probably damaging Het
Lyrm7 T A 11: 54,848,599 (GRCm38) H75L possibly damaging Het
Map4k1 A T 7: 28,991,036 (GRCm38) Q351L probably benign Het
Mgam T C 6: 40,661,683 (GRCm38) I450T probably benign Het
Nbeal2 A G 9: 110,636,305 (GRCm38) L955P probably damaging Het
Nlrp9c T C 7: 26,378,101 (GRCm38) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm38) I70K probably benign Het
Olfr201 C T 16: 59,268,944 (GRCm38) C241Y probably damaging Het
Olfr298 A G 7: 86,489,125 (GRCm38) M142T probably damaging Het
Otud7a A G 7: 63,758,643 (GRCm38) Y898C probably damaging Het
Pcdhb18 A C 18: 37,490,892 (GRCm38) D425A probably damaging Het
Prdm1 A T 10: 44,439,986 (GRCm38) L733* probably null Het
Prdm2 A T 4: 143,135,583 (GRCm38) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,137,306 (GRCm38) D167G probably damaging Het
Rnf215 G T 11: 4,135,451 (GRCm38) R60L probably damaging Het
Sdk1 A T 5: 141,999,950 (GRCm38) H779L probably benign Het
Serpine2 A G 1: 79,795,031 (GRCm38) F390L probably damaging Het
Sh3d21 T A 4: 126,151,726 (GRCm38) K387* probably null Het
Slc13a2 T C 11: 78,397,746 (GRCm38) Y568C possibly damaging Het
Slc27a5 T C 7: 12,988,459 (GRCm38) probably null Het
Slc32a1 T C 2: 158,614,577 (GRCm38) L384P probably damaging Het
Sorcs1 T C 19: 50,252,587 (GRCm38) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm38) Y228C possibly damaging Het
Spc25 T C 2: 69,200,087 (GRCm38) I71V probably damaging Het
Tcte1 T A 17: 45,535,252 (GRCm38) F261I probably damaging Het
Thsd7a T A 6: 12,471,175 (GRCm38) K481N probably benign Het
Tll2 G T 19: 41,086,400 (GRCm38) N908K probably benign Het
Tmem236 T C 2: 14,192,280 (GRCm38) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,767,011 (GRCm38) S949N probably benign Het
Triobp A G 15: 78,973,738 (GRCm38) T1180A probably benign Het
Trip11 A C 12: 101,886,160 (GRCm38) D548E probably benign Het
Trpv2 T A 11: 62,589,826 (GRCm38) probably null Het
Vmn1r12 T A 6: 57,159,555 (GRCm38) H212Q probably damaging Het
Vmn2r112 A G 17: 22,618,903 (GRCm38) T782A possibly damaging Het
Vmn2r7 A G 3: 64,716,455 (GRCm38) V239A possibly damaging Het
Vmn2r80 T A 10: 79,194,219 (GRCm38) N626K probably damaging Het
Vmn2r99 A G 17: 19,380,060 (GRCm38) S449G probably benign Het
Wfikkn2 T C 11: 94,238,107 (GRCm38) T403A probably benign Het
Xirp2 A G 2: 67,515,679 (GRCm38) I2755V probably benign Het
Yjefn3 A G 8: 69,889,079 (GRCm38) V153A probably benign Het
Zfp677 C A 17: 21,397,237 (GRCm38) H185Q possibly damaging Het
Zfp947 C T 17: 22,146,292 (GRCm38) V134I probably benign Het
Other mutations in Fam186a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Fam186a APN 15 99,927,691 (GRCm38) splice site probably benign
IGL03047:Fam186a UTSW 15 99,945,708 (GRCm38) missense unknown
R0172:Fam186a UTSW 15 99,954,887 (GRCm38) missense unknown
R0194:Fam186a UTSW 15 99,941,763 (GRCm38) missense possibly damaging 0.92
R0381:Fam186a UTSW 15 99,942,174 (GRCm38) missense probably damaging 0.97
R0799:Fam186a UTSW 15 99,942,012 (GRCm38) missense probably damaging 1.00
R1295:Fam186a UTSW 15 99,939,789 (GRCm38) splice site probably benign
R1366:Fam186a UTSW 15 99,943,389 (GRCm38) missense possibly damaging 0.89
R1592:Fam186a UTSW 15 99,940,318 (GRCm38) missense probably benign 0.01
R1636:Fam186a UTSW 15 99,941,658 (GRCm38) missense unknown
R1719:Fam186a UTSW 15 99,942,346 (GRCm38) missense possibly damaging 0.54
R1759:Fam186a UTSW 15 99,966,881 (GRCm38) nonsense probably null
R1856:Fam186a UTSW 15 99,940,302 (GRCm38) missense possibly damaging 0.82
R2131:Fam186a UTSW 15 99,933,676 (GRCm38) unclassified probably benign
R2192:Fam186a UTSW 15 99,940,311 (GRCm38) missense possibly damaging 0.90
R2239:Fam186a UTSW 15 99,954,864 (GRCm38) missense unknown
R2251:Fam186a UTSW 15 99,945,097 (GRCm38) missense probably benign 0.02
R2902:Fam186a UTSW 15 99,945,168 (GRCm38) missense possibly damaging 0.73
R3037:Fam186a UTSW 15 99,943,794 (GRCm38) missense probably damaging 0.99
R3744:Fam186a UTSW 15 99,947,535 (GRCm38) missense unknown
R4021:Fam186a UTSW 15 99,941,799 (GRCm38) missense possibly damaging 0.66
R4183:Fam186a UTSW 15 99,933,685 (GRCm38) unclassified probably benign
R4238:Fam186a UTSW 15 99,943,642 (GRCm38) missense probably benign 0.05
R4667:Fam186a UTSW 15 99,944,532 (GRCm38) missense possibly damaging 0.92
R4817:Fam186a UTSW 15 99,933,538 (GRCm38) unclassified probably benign
R4835:Fam186a UTSW 15 99,945,808 (GRCm38) missense unknown
R4837:Fam186a UTSW 15 99,940,797 (GRCm38) missense unknown
R4897:Fam186a UTSW 15 99,945,277 (GRCm38) missense possibly damaging 0.66
R4902:Fam186a UTSW 15 99,946,842 (GRCm38) missense unknown
R4950:Fam186a UTSW 15 99,941,653 (GRCm38) missense unknown
R4995:Fam186a UTSW 15 99,945,099 (GRCm38) missense probably benign 0.27
R5062:Fam186a UTSW 15 99,944,646 (GRCm38) missense possibly damaging 0.66
R5124:Fam186a UTSW 15 99,943,096 (GRCm38) missense possibly damaging 0.90
R5133:Fam186a UTSW 15 99,955,493 (GRCm38) missense unknown
R5424:Fam186a UTSW 15 99,945,763 (GRCm38) missense unknown
R5624:Fam186a UTSW 15 99,941,747 (GRCm38) missense possibly damaging 0.90
R5628:Fam186a UTSW 15 99,941,747 (GRCm38) missense possibly damaging 0.90
R5637:Fam186a UTSW 15 99,941,747 (GRCm38) missense possibly damaging 0.90
R5639:Fam186a UTSW 15 99,947,050 (GRCm38) missense unknown
R5652:Fam186a UTSW 15 99,945,372 (GRCm38) missense possibly damaging 0.79
R5673:Fam186a UTSW 15 99,941,747 (GRCm38) missense possibly damaging 0.90
R5799:Fam186a UTSW 15 99,966,824 (GRCm38) nonsense probably null
R5965:Fam186a UTSW 15 99,945,097 (GRCm38) missense probably benign 0.37
R6044:Fam186a UTSW 15 99,941,997 (GRCm38) missense probably damaging 0.97
R6077:Fam186a UTSW 15 99,942,703 (GRCm38) missense possibly damaging 0.46
R6120:Fam186a UTSW 15 99,940,363 (GRCm38) missense probably benign 0.00
R6185:Fam186a UTSW 15 99,947,649 (GRCm38) missense unknown
R6186:Fam186a UTSW 15 99,947,325 (GRCm38) missense unknown
R6242:Fam186a UTSW 15 99,939,907 (GRCm38) missense unknown
R6351:Fam186a UTSW 15 99,941,742 (GRCm38) missense probably damaging 0.97
R6368:Fam186a UTSW 15 99,943,317 (GRCm38) missense possibly damaging 0.66
R6369:Fam186a UTSW 15 99,947,331 (GRCm38) missense unknown
R6559:Fam186a UTSW 15 99,944,475 (GRCm38) missense possibly damaging 0.46
R6855:Fam186a UTSW 15 99,954,875 (GRCm38) missense unknown
R6867:Fam186a UTSW 15 99,945,850 (GRCm38) missense unknown
R6957:Fam186a UTSW 15 99,946,476 (GRCm38) missense unknown
R6961:Fam186a UTSW 15 99,940,201 (GRCm38) missense probably benign 0.16
R6994:Fam186a UTSW 15 99,942,466 (GRCm38) missense probably benign 0.35
R6996:Fam186a UTSW 15 99,955,493 (GRCm38) missense unknown
R7062:Fam186a UTSW 15 99,933,640 (GRCm38) unclassified probably benign
R7064:Fam186a UTSW 15 99,941,676 (GRCm38) missense unknown
R7173:Fam186a UTSW 15 99,945,650 (GRCm38) missense unknown
R7244:Fam186a UTSW 15 99,946,392 (GRCm38) missense unknown
R7270:Fam186a UTSW 15 99,944,152 (GRCm38) missense possibly damaging 0.66
R7410:Fam186a UTSW 15 99,946,945 (GRCm38) nonsense probably null
R7437:Fam186a UTSW 15 99,942,894 (GRCm38) missense probably damaging 1.00
R7475:Fam186a UTSW 15 99,947,514 (GRCm38) missense unknown
R7487:Fam186a UTSW 15 99,942,136 (GRCm38) missense possibly damaging 0.66
R7526:Fam186a UTSW 15 99,941,915 (GRCm38) missense possibly damaging 0.83
R7650:Fam186a UTSW 15 99,939,907 (GRCm38) missense unknown
R7658:Fam186a UTSW 15 99,939,844 (GRCm38) missense unknown
R7663:Fam186a UTSW 15 99,945,069 (GRCm38) missense probably benign 0.00
R7703:Fam186a UTSW 15 99,954,797 (GRCm38) missense unknown
R7814:Fam186a UTSW 15 99,944,664 (GRCm38) missense possibly damaging 0.92
R7958:Fam186a UTSW 15 99,943,308 (GRCm38) missense probably damaging 0.99
R7970:Fam186a UTSW 15 99,933,586 (GRCm38) missense unknown
R8076:Fam186a UTSW 15 99,943,470 (GRCm38) missense possibly damaging 0.83
R8087:Fam186a UTSW 15 99,941,844 (GRCm38) missense possibly damaging 0.46
R8130:Fam186a UTSW 15 99,944,033 (GRCm38) frame shift probably null
R8239:Fam186a UTSW 15 99,941,310 (GRCm38) missense unknown
R8246:Fam186a UTSW 15 99,940,547 (GRCm38) missense unknown
R8446:Fam186a UTSW 15 99,947,454 (GRCm38) missense unknown
R8469:Fam186a UTSW 15 99,947,305 (GRCm38) missense unknown
R8676:Fam186a UTSW 15 99,947,142 (GRCm38) missense unknown
R8790:Fam186a UTSW 15 99,943,143 (GRCm38) missense possibly damaging 0.90
R8808:Fam186a UTSW 15 99,944,723 (GRCm38) missense possibly damaging 0.83
R8848:Fam186a UTSW 15 99,940,153 (GRCm38) missense possibly damaging 0.83
R9083:Fam186a UTSW 15 99,945,198 (GRCm38) missense probably benign 0.27
R9106:Fam186a UTSW 15 99,946,226 (GRCm38) small deletion probably benign
R9116:Fam186a UTSW 15 99,942,591 (GRCm38) missense possibly damaging 0.95
R9156:Fam186a UTSW 15 99,943,278 (GRCm38) missense possibly damaging 0.46
R9227:Fam186a UTSW 15 99,955,503 (GRCm38) missense unknown
R9250:Fam186a UTSW 15 99,947,449 (GRCm38) missense unknown
R9282:Fam186a UTSW 15 99,941,998 (GRCm38) missense probably damaging 0.97
R9495:Fam186a UTSW 15 99,946,885 (GRCm38) missense unknown
R9514:Fam186a UTSW 15 99,946,885 (GRCm38) missense unknown
R9521:Fam186a UTSW 15 99,943,590 (GRCm38) missense probably damaging 0.97
R9553:Fam186a UTSW 15 99,946,680 (GRCm38) missense unknown
R9641:Fam186a UTSW 15 99,940,363 (GRCm38) missense probably benign 0.00
R9655:Fam186a UTSW 15 99,943,092 (GRCm38) missense probably damaging 0.99
R9661:Fam186a UTSW 15 99,944,611 (GRCm38) missense possibly damaging 0.66
R9673:Fam186a UTSW 15 99,943,143 (GRCm38) missense possibly damaging 0.90
R9762:Fam186a UTSW 15 99,944,512 (GRCm38) missense possibly damaging 0.66
X0021:Fam186a UTSW 15 99,945,435 (GRCm38) missense probably benign 0.00
Z1088:Fam186a UTSW 15 99,945,994 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCTCGCTGAGTTCTTGGATGACC -3'
(R):5'- GTTAGTCAAGGCTGAGTTCCTTAGGC -3'

Sequencing Primer
(F):5'- TTGCTCTTCCTTCAGAACAGAC -3'
(R):5'- GGCTTAAACATGGACACAGAAC -3'
Posted On 2014-04-13