Incidental Mutation 'R5637:Fam186a'
ID 440462
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: 0.059) question?
Stock # R5637 (G1)
Quality Score 99
Status Not validated
Chromosome 15
Chromosomal Location 99816229-99864942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99839628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 2205 (H2205Q)
Ref Sequence ENSEMBL: ENSMUSP00000097783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100209]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000100209
AA Change: H2205Q

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: H2205Q

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: ENSMUST00000104255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180309
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,694,050 (GRCm39) F327L probably damaging Het
Adgrl3 C A 5: 81,841,391 (GRCm39) S824Y probably damaging Het
Arfip2 A G 7: 105,286,370 (GRCm39) M144T probably damaging Het
Arhgap32 A G 9: 32,158,502 (GRCm39) N179S probably damaging Het
Ash2l T C 8: 26,317,339 (GRCm39) Y249C probably damaging Het
Ccndbp1 A G 2: 120,842,165 (GRCm39) T141A probably benign Het
Cd177 T A 7: 24,455,748 (GRCm39) H258L probably benign Het
Celsr3 T C 9: 108,714,332 (GRCm39) W1956R probably damaging Het
Cep295 T C 9: 15,245,108 (GRCm39) probably null Het
Cngb1 T C 8: 95,984,549 (GRCm39) H420R probably damaging Het
Cobl C T 11: 12,246,531 (GRCm39) probably benign Het
Cobll1 T C 2: 64,956,247 (GRCm39) D337G possibly damaging Het
Dmrta1 A G 4: 89,577,068 (GRCm39) N175D probably benign Het
Dnah7b G T 1: 46,395,674 (GRCm39) V3859L possibly damaging Het
Dnah7c A G 1: 46,799,521 (GRCm39) probably null Het
Dusp4 C A 8: 35,284,451 (GRCm39) H255Q probably damaging Het
Evx1 T C 6: 52,292,751 (GRCm39) V134A possibly damaging Het
F12 T C 13: 55,570,228 (GRCm39) K93E possibly damaging Het
Fcgbpl1 A G 7: 27,852,277 (GRCm39) N1267D probably benign Het
Frem2 A G 3: 53,560,358 (GRCm39) I1383T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr158 A G 2: 21,788,083 (GRCm39) I575V probably benign Het
Hdc A G 2: 126,458,109 (GRCm39) V71A probably benign Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Inppl1 A T 7: 101,478,055 (GRCm39) S652R probably benign Het
Itpripl1 T C 2: 126,984,044 (GRCm39) D26G probably damaging Het
Klc1 T A 12: 111,740,842 (GRCm39) L106H probably damaging Het
Klhl25 T A 7: 75,515,540 (GRCm39) probably null Het
Krt6a T C 15: 101,600,714 (GRCm39) D318G probably benign Het
Lrp2 T C 2: 69,302,762 (GRCm39) N2989S probably damaging Het
Lta4h A G 10: 93,304,731 (GRCm39) probably null Het
Man1c1 A G 4: 134,318,735 (GRCm39) S251P probably damaging Het
Mapre2 T C 18: 23,886,919 (GRCm39) probably benign Het
Mfap3l A T 8: 61,109,821 (GRCm39) I66F probably damaging Het
Mvk A G 5: 114,594,003 (GRCm39) E286G possibly damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or14a260 G A 7: 85,984,812 (GRCm39) T264I probably benign Het
Or4f52 T A 2: 111,061,456 (GRCm39) K227N probably benign Het
Or7d11 A T 9: 19,966,279 (GRCm39) V160D possibly damaging Het
Pcdh9 A G 14: 94,123,198 (GRCm39) F991L possibly damaging Het
Pcdha9 T C 18: 37,131,426 (GRCm39) V165A probably benign Het
Pcsk6 A G 7: 65,618,745 (GRCm39) H437R probably damaging Het
Pfas C T 11: 68,884,149 (GRCm39) V589M probably damaging Het
Prpf40a A G 2: 53,046,746 (GRCm39) V288A possibly damaging Het
Rnf183 T C 4: 62,346,387 (GRCm39) D137G probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Scap G A 9: 110,210,640 (GRCm39) A991T possibly damaging Het
Sdk2 C A 11: 113,724,005 (GRCm39) V1222F probably damaging Het
Sdr16c6 T A 4: 4,063,232 (GRCm39) N181I possibly damaging Het
Semp2l2a A T 8: 13,887,713 (GRCm39) M126K possibly damaging Het
Serpinb7 A T 1: 107,356,037 (GRCm39) D20V probably damaging Het
Sh3bp2 C A 5: 34,718,392 (GRCm39) R531S possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox2 A G 3: 34,704,677 (GRCm39) N38S probably benign Het
Spg7 C A 8: 123,821,314 (GRCm39) Q680K possibly damaging Het
Styk1 T C 6: 131,277,381 (GRCm39) E331G possibly damaging Het
Tkfc G A 19: 10,571,897 (GRCm39) R380W probably benign Het
Trib3 A G 2: 152,180,410 (GRCm39) F261S probably damaging Het
Ubr1 T A 2: 120,793,998 (GRCm39) Q62L possibly damaging Het
Vmn2r54 T C 7: 12,349,296 (GRCm39) Y762C probably benign Het
Vmn2r97 T A 17: 19,167,628 (GRCm39) Y627* probably null Het
Zfp12 A G 5: 143,231,451 (GRCm39) K625E probably damaging Het
Zw10 T C 9: 48,968,950 (GRCm39) V38A probably damaging Het
Other mutations in Fam186a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Fam186a APN 15 99,825,572 (GRCm39) splice site probably benign
IGL03047:Fam186a UTSW 15 99,843,589 (GRCm39) missense unknown
R0172:Fam186a UTSW 15 99,852,768 (GRCm39) missense unknown
R0194:Fam186a UTSW 15 99,839,644 (GRCm39) missense possibly damaging 0.92
R0381:Fam186a UTSW 15 99,840,055 (GRCm39) missense probably damaging 0.97
R0799:Fam186a UTSW 15 99,839,893 (GRCm39) missense probably damaging 1.00
R1295:Fam186a UTSW 15 99,837,670 (GRCm39) splice site probably benign
R1366:Fam186a UTSW 15 99,841,270 (GRCm39) missense possibly damaging 0.89
R1519:Fam186a UTSW 15 99,845,536 (GRCm39) missense unknown
R1592:Fam186a UTSW 15 99,838,199 (GRCm39) missense probably benign 0.01
R1636:Fam186a UTSW 15 99,839,539 (GRCm39) missense unknown
R1719:Fam186a UTSW 15 99,840,227 (GRCm39) missense possibly damaging 0.54
R1759:Fam186a UTSW 15 99,864,762 (GRCm39) nonsense probably null
R1856:Fam186a UTSW 15 99,838,183 (GRCm39) missense possibly damaging 0.82
R2131:Fam186a UTSW 15 99,831,557 (GRCm39) unclassified probably benign
R2192:Fam186a UTSW 15 99,838,192 (GRCm39) missense possibly damaging 0.90
R2239:Fam186a UTSW 15 99,852,745 (GRCm39) missense unknown
R2251:Fam186a UTSW 15 99,842,978 (GRCm39) missense probably benign 0.02
R2902:Fam186a UTSW 15 99,843,049 (GRCm39) missense possibly damaging 0.73
R3037:Fam186a UTSW 15 99,841,675 (GRCm39) missense probably damaging 0.99
R3744:Fam186a UTSW 15 99,845,416 (GRCm39) missense unknown
R4021:Fam186a UTSW 15 99,839,680 (GRCm39) missense possibly damaging 0.66
R4183:Fam186a UTSW 15 99,831,566 (GRCm39) unclassified probably benign
R4238:Fam186a UTSW 15 99,841,523 (GRCm39) missense probably benign 0.05
R4667:Fam186a UTSW 15 99,842,413 (GRCm39) missense possibly damaging 0.92
R4817:Fam186a UTSW 15 99,831,419 (GRCm39) unclassified probably benign
R4835:Fam186a UTSW 15 99,843,689 (GRCm39) missense unknown
R4837:Fam186a UTSW 15 99,838,678 (GRCm39) missense unknown
R4897:Fam186a UTSW 15 99,843,158 (GRCm39) missense possibly damaging 0.66
R4902:Fam186a UTSW 15 99,844,723 (GRCm39) missense unknown
R4950:Fam186a UTSW 15 99,839,534 (GRCm39) missense unknown
R4995:Fam186a UTSW 15 99,842,980 (GRCm39) missense probably benign 0.27
R5062:Fam186a UTSW 15 99,842,527 (GRCm39) missense possibly damaging 0.66
R5124:Fam186a UTSW 15 99,840,977 (GRCm39) missense possibly damaging 0.90
R5133:Fam186a UTSW 15 99,853,374 (GRCm39) missense unknown
R5424:Fam186a UTSW 15 99,843,644 (GRCm39) missense unknown
R5624:Fam186a UTSW 15 99,839,628 (GRCm39) missense possibly damaging 0.90
R5628:Fam186a UTSW 15 99,839,628 (GRCm39) missense possibly damaging 0.90
R5639:Fam186a UTSW 15 99,844,931 (GRCm39) missense unknown
R5652:Fam186a UTSW 15 99,843,253 (GRCm39) missense possibly damaging 0.79
R5673:Fam186a UTSW 15 99,839,628 (GRCm39) missense possibly damaging 0.90
R5799:Fam186a UTSW 15 99,864,705 (GRCm39) nonsense probably null
R5965:Fam186a UTSW 15 99,842,978 (GRCm39) missense probably benign 0.37
R6044:Fam186a UTSW 15 99,839,878 (GRCm39) missense probably damaging 0.97
R6077:Fam186a UTSW 15 99,840,584 (GRCm39) missense possibly damaging 0.46
R6120:Fam186a UTSW 15 99,838,244 (GRCm39) missense probably benign 0.00
R6185:Fam186a UTSW 15 99,845,530 (GRCm39) missense unknown
R6186:Fam186a UTSW 15 99,845,206 (GRCm39) missense unknown
R6242:Fam186a UTSW 15 99,837,788 (GRCm39) missense unknown
R6351:Fam186a UTSW 15 99,839,623 (GRCm39) missense probably damaging 0.97
R6368:Fam186a UTSW 15 99,841,198 (GRCm39) missense possibly damaging 0.66
R6369:Fam186a UTSW 15 99,845,212 (GRCm39) missense unknown
R6559:Fam186a UTSW 15 99,842,356 (GRCm39) missense possibly damaging 0.46
R6855:Fam186a UTSW 15 99,852,756 (GRCm39) missense unknown
R6867:Fam186a UTSW 15 99,843,731 (GRCm39) missense unknown
R6957:Fam186a UTSW 15 99,844,357 (GRCm39) missense unknown
R6961:Fam186a UTSW 15 99,838,082 (GRCm39) missense probably benign 0.16
R6994:Fam186a UTSW 15 99,840,347 (GRCm39) missense probably benign 0.35
R6996:Fam186a UTSW 15 99,853,374 (GRCm39) missense unknown
R7062:Fam186a UTSW 15 99,831,521 (GRCm39) unclassified probably benign
R7064:Fam186a UTSW 15 99,839,557 (GRCm39) missense unknown
R7173:Fam186a UTSW 15 99,843,531 (GRCm39) missense unknown
R7244:Fam186a UTSW 15 99,844,273 (GRCm39) missense unknown
R7270:Fam186a UTSW 15 99,842,033 (GRCm39) missense possibly damaging 0.66
R7410:Fam186a UTSW 15 99,844,826 (GRCm39) nonsense probably null
R7437:Fam186a UTSW 15 99,840,775 (GRCm39) missense probably damaging 1.00
R7475:Fam186a UTSW 15 99,845,395 (GRCm39) missense unknown
R7487:Fam186a UTSW 15 99,840,017 (GRCm39) missense possibly damaging 0.66
R7526:Fam186a UTSW 15 99,839,796 (GRCm39) missense possibly damaging 0.83
R7650:Fam186a UTSW 15 99,837,788 (GRCm39) missense unknown
R7658:Fam186a UTSW 15 99,837,725 (GRCm39) missense unknown
R7663:Fam186a UTSW 15 99,842,950 (GRCm39) missense probably benign 0.00
R7703:Fam186a UTSW 15 99,852,678 (GRCm39) missense unknown
R7814:Fam186a UTSW 15 99,842,545 (GRCm39) missense possibly damaging 0.92
R7958:Fam186a UTSW 15 99,841,189 (GRCm39) missense probably damaging 0.99
R7970:Fam186a UTSW 15 99,831,467 (GRCm39) missense unknown
R8076:Fam186a UTSW 15 99,841,351 (GRCm39) missense possibly damaging 0.83
R8087:Fam186a UTSW 15 99,839,725 (GRCm39) missense possibly damaging 0.46
R8130:Fam186a UTSW 15 99,841,914 (GRCm39) frame shift probably null
R8239:Fam186a UTSW 15 99,839,191 (GRCm39) missense unknown
R8246:Fam186a UTSW 15 99,838,428 (GRCm39) missense unknown
R8446:Fam186a UTSW 15 99,845,335 (GRCm39) missense unknown
R8469:Fam186a UTSW 15 99,845,186 (GRCm39) missense unknown
R8676:Fam186a UTSW 15 99,845,023 (GRCm39) missense unknown
R8790:Fam186a UTSW 15 99,841,024 (GRCm39) missense possibly damaging 0.90
R8808:Fam186a UTSW 15 99,842,604 (GRCm39) missense possibly damaging 0.83
R8848:Fam186a UTSW 15 99,838,034 (GRCm39) missense possibly damaging 0.83
R9083:Fam186a UTSW 15 99,843,079 (GRCm39) missense probably benign 0.27
R9106:Fam186a UTSW 15 99,844,107 (GRCm39) small deletion probably benign
R9116:Fam186a UTSW 15 99,840,472 (GRCm39) missense possibly damaging 0.95
R9156:Fam186a UTSW 15 99,841,159 (GRCm39) missense possibly damaging 0.46
R9227:Fam186a UTSW 15 99,853,384 (GRCm39) missense unknown
R9250:Fam186a UTSW 15 99,845,330 (GRCm39) missense unknown
R9282:Fam186a UTSW 15 99,839,879 (GRCm39) missense probably damaging 0.97
R9495:Fam186a UTSW 15 99,844,766 (GRCm39) missense unknown
R9514:Fam186a UTSW 15 99,844,766 (GRCm39) missense unknown
R9521:Fam186a UTSW 15 99,841,471 (GRCm39) missense probably damaging 0.97
R9553:Fam186a UTSW 15 99,844,561 (GRCm39) missense unknown
R9641:Fam186a UTSW 15 99,838,244 (GRCm39) missense probably benign 0.00
R9655:Fam186a UTSW 15 99,840,973 (GRCm39) missense probably damaging 0.99
R9661:Fam186a UTSW 15 99,842,492 (GRCm39) missense possibly damaging 0.66
R9673:Fam186a UTSW 15 99,841,024 (GRCm39) missense possibly damaging 0.90
R9762:Fam186a UTSW 15 99,842,393 (GRCm39) missense possibly damaging 0.66
X0021:Fam186a UTSW 15 99,843,316 (GRCm39) missense probably benign 0.00
Z1088:Fam186a UTSW 15 99,843,875 (GRCm39) missense unknown
Predicted Primers
Posted On 2016-11-08