Incidental Mutation 'R6351:Fam186a'
ID 514289
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 # R6351 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99816229-99864942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99839623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 2207 (L2207R)
Ref Sequence ENSEMBL: ENSMUSP00000097783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100209]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000100209
AA Change: L2207R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: L2207R

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 99% (95/96)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a C A 9: 119,170,630 (GRCm39) S17* probably null Het
Adamts16 T A 13: 70,984,322 (GRCm39) S114C probably damaging Het
Agpat5 T C 8: 18,896,724 (GRCm39) V50A probably benign Het
Agrn T C 4: 156,263,891 (GRCm39) N124S probably benign Het
Ak8 T C 2: 28,625,638 (GRCm39) I227T probably benign Het
Akap6 A G 12: 53,188,808 (GRCm39) E2074G probably damaging Het
Apc T A 18: 34,445,265 (GRCm39) S702R probably damaging Het
Ascc3 T C 10: 50,596,769 (GRCm39) I1233T probably damaging Het
Asphd2 A T 5: 112,533,698 (GRCm39) F318I probably damaging Het
Bltp1 G A 3: 36,962,377 (GRCm39) A493T probably damaging Het
Bnc2 T C 4: 84,211,380 (GRCm39) T397A probably benign Het
Bpifb4 C T 2: 153,799,054 (GRCm39) T528I probably damaging Het
Brinp3 A G 1: 146,777,323 (GRCm39) E590G probably damaging Het
Ccdc149 A G 5: 52,542,477 (GRCm39) S372P probably benign Het
Cdhr2 A G 13: 54,874,589 (GRCm39) H887R probably benign Het
Clcn6 C T 4: 148,101,957 (GRCm39) V376I probably benign Het
Cntln T G 4: 85,033,591 (GRCm39) C1305W probably damaging Het
Cspg4 A G 9: 56,799,928 (GRCm39) D1564G probably benign Het
Cux1 A T 5: 136,338,646 (GRCm39) S582T probably damaging Het
Cwh43 G A 5: 73,569,248 (GRCm39) A97T possibly damaging Het
Dsc1 A T 18: 20,219,826 (GRCm39) F781L probably damaging Het
Dsc3 G T 18: 20,099,348 (GRCm39) H723N probably benign Het
Ear10 A T 14: 44,160,512 (GRCm39) V105D probably damaging Het
Ecel1 A G 1: 87,077,231 (GRCm39) V659A possibly damaging Het
Eogt A T 6: 97,097,155 (GRCm39) F316I probably damaging Het
Etaa1 T C 11: 17,897,188 (GRCm39) N310D possibly damaging Het
Exoc3l2 G A 7: 19,203,633 (GRCm39) R75Q possibly damaging Het
Fam187b T C 7: 30,677,024 (GRCm39) Y178H probably damaging Het
Fat1 A T 8: 45,486,532 (GRCm39) Q3362L probably damaging Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fsip2 G A 2: 82,823,028 (GRCm39) V6254I possibly damaging Het
Gabra5 T C 7: 57,063,528 (GRCm39) T299A probably damaging Het
Gbp11 T C 5: 105,475,464 (GRCm39) T295A probably benign Het
Glcci1 C T 6: 8,573,203 (GRCm39) Q44* probably null Het
Gpc5 A T 14: 115,636,612 (GRCm39) T432S probably benign Het
Grhl1 G A 12: 24,634,857 (GRCm39) E228K probably damaging Het
Hyal5 T C 6: 24,891,708 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints9 A G 14: 65,230,456 (GRCm39) I128V probably damaging Het
Kcnt2 A T 1: 140,302,850 (GRCm39) N130I probably damaging Het
Krba1 T C 6: 48,391,062 (GRCm39) V717A probably benign Het
Lrp12 T A 15: 39,741,584 (GRCm39) D377V probably damaging Het
Magi1 G T 6: 93,920,210 (GRCm39) D135E possibly damaging Het
Map10 T A 8: 126,397,984 (GRCm39) L459Q probably damaging Het
Mitf A G 6: 97,980,873 (GRCm39) D238G possibly damaging Het
Ms4a19 C T 19: 11,119,765 (GRCm39) G14D probably damaging Het
Mylk G T 16: 34,742,341 (GRCm39) R951L probably benign Het
Nacad T A 11: 6,549,235 (GRCm39) D1272V probably damaging Het
Nacad T A 11: 6,550,165 (GRCm39) K1009* probably null Het
Ncor1 T C 11: 62,264,124 (GRCm39) D786G probably benign Het
Oas2 G A 5: 120,886,603 (GRCm39) R188C probably benign Het
Odf2l A G 3: 144,841,479 (GRCm39) I300V probably benign Het
Or1j10 T A 2: 36,267,208 (GRCm39) V140D possibly damaging Het
Or51b17 A T 7: 103,542,342 (GRCm39) L200* probably null Het
Or51v8 A G 7: 103,320,163 (GRCm39) I25T possibly damaging Het
Or5p60 A G 7: 107,723,637 (GRCm39) S278P probably damaging Het
Or9i1 A G 19: 13,839,186 (GRCm39) T10A probably benign Het
Pes1 T A 11: 3,928,865 (GRCm39) D574E probably benign Het
Phf20 C T 2: 156,136,130 (GRCm39) R650C possibly damaging Het
Pias4 G A 10: 80,993,098 (GRCm39) T248I probably damaging Het
Pkhd1 T C 1: 20,282,175 (GRCm39) T2889A probably benign Het
Plcxd1 C A 5: 110,250,033 (GRCm39) probably null Het
Plekha7 A G 7: 115,776,133 (GRCm39) F194L probably damaging Het
Plxnb2 T C 15: 89,041,973 (GRCm39) N1642S possibly damaging Het
Pnpla7 A T 2: 24,901,576 (GRCm39) D534V probably damaging Het
Ppp2r5c A T 12: 110,521,313 (GRCm39) S279C probably damaging Het
Ptprq T A 10: 107,544,529 (GRCm39) T334S probably damaging Het
Rab39 T C 9: 53,597,821 (GRCm39) D148G probably benign Het
Reep3 A T 10: 66,870,432 (GRCm39) F121L probably benign Het
Reln G T 5: 22,106,661 (GRCm39) C3236* probably null Het
Rrp8 C T 7: 105,384,016 (GRCm39) C162Y probably damaging Het
Scrib C A 15: 75,936,835 (GRCm39) Q399H possibly damaging Het
Sertad1 T A 7: 27,189,224 (GRCm39) Y182N possibly damaging Het
Sfrp5 A G 19: 42,190,263 (GRCm39) V63A possibly damaging Het
Shoc1 T C 4: 59,069,317 (GRCm39) D703G probably benign Het
Slc46a1 T C 11: 78,357,985 (GRCm39) M346T probably benign Het
Sycp2 A G 2: 178,005,209 (GRCm39) L886S probably damaging Het
Teddm1b A T 1: 153,750,505 (GRCm39) I105F probably benign Het
Thumpd1 A T 7: 119,319,828 (GRCm39) I46N possibly damaging Het
Tmod4 A G 3: 95,035,164 (GRCm39) N223S probably damaging Het
Tnfrsf10b G C 14: 70,010,850 (GRCm39) C85S probably damaging Het
Tox T C 4: 6,697,439 (GRCm39) T455A probably benign Het
Tox T C 4: 6,741,536 (GRCm39) Q148R probably benign Het
Trp53bp1 A C 2: 121,100,426 (GRCm39) S109R probably damaging Het
Tshz2 A T 2: 169,726,888 (GRCm39) T26S probably benign Het
Tubb4a T A 17: 57,388,016 (GRCm39) N337Y probably damaging Het
Tubb6 T A 18: 67,534,458 (GRCm39) V119E probably damaging Het
Unk C T 11: 115,945,772 (GRCm39) T481I probably benign Het
Vmn2r112 C T 17: 22,820,259 (GRCm39) T44I probably benign Het
Vstm5 G A 9: 15,168,829 (GRCm39) G131D probably damaging Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp369 T A 13: 65,444,044 (GRCm39) S396T possibly damaging Het
Zfp932 T A 5: 110,157,209 (GRCm39) C302* probably null Het
Zfp972 A T 2: 177,548,728 (GRCm39) probably null Het
Zfyve21 C A 12: 111,794,028 (GRCm39) A212E probably benign 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
R5637: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
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 PCR Primer
(F):5'- TAGAGGCGACAGCTGGTTTG -3'
(R):5'- GAAGATTTGCCTCACCCCTGAG -3'

Sequencing Primer
(F):5'- TGGGGATTTGGATAGACTCAGAG -3'
(R):5'- CCCTGGGGATCACTGTCAC -3'
Posted On 2018-04-27