Incidental Mutation 'R9514:Fam186a'
ID 718411
Institutional Source Beutler Lab
Gene Symbol Fam186a
Ensembl Gene ENSMUSG00000045350
Gene Name family with sequence similarity 186, member A
Synonyms LOC380973, 1700030F18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9514 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 99816229-99864942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99844766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 493 (S493P)
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: S493P
SMART Domains Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: S493P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T C 11: 58,312,533 (GRCm39) S4P probably benign Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Acsl6 A G 11: 54,225,880 (GRCm39) N307D probably benign Het
Atxn1 A G 13: 45,721,433 (GRCm39) V154A probably benign Het
Bltp3a A G 17: 28,112,414 (GRCm39) D1201G probably damaging Het
Cacna2d4 T C 6: 119,213,611 (GRCm39) L10S probably benign Het
Cd33 A T 7: 43,182,150 (GRCm39) H98Q probably benign Het
Cebpz A T 17: 79,239,684 (GRCm39) M579K probably benign Het
Cenpk T G 13: 104,370,682 (GRCm39) C103G probably benign Het
Cep97 T A 16: 55,726,093 (GRCm39) Q670L probably benign Het
Cfap65 C T 1: 74,945,468 (GRCm39) probably null Het
Cir1 A G 2: 73,142,781 (GRCm39) S18P probably damaging Het
Coprs T C 8: 13,935,081 (GRCm39) Y158C probably damaging Het
Creld1 T C 6: 113,469,765 (GRCm39) F389S probably damaging Het
Dimt1 T C 13: 107,093,636 (GRCm39) I276T possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dsp T A 13: 38,371,781 (GRCm39) C911S probably benign Het
Egr3 A G 14: 70,314,978 (GRCm39) I29V probably benign Het
Fam83a G A 15: 57,849,765 (GRCm39) G103D possibly damaging Het
Fat2 T A 11: 55,175,808 (GRCm39) Q1635L probably damaging Het
Figla A C 6: 85,997,689 (GRCm39) H139P probably benign Het
Fryl T C 5: 73,262,115 (GRCm39) K551E probably damaging Het
Galr2 A G 11: 116,174,452 (GRCm39) T361A probably benign Het
Gart A T 16: 91,427,596 (GRCm39) S467R probably benign Het
Ggps1 T C 13: 14,229,742 (GRCm39) K45R probably benign Het
Ghsr G C 3: 27,426,630 (GRCm39) V229L possibly damaging Het
H2ac21 A G 3: 96,127,401 (GRCm39) E57G probably damaging Het
Hectd2 A T 19: 36,582,689 (GRCm39) H473L possibly damaging Het
Hic2 T C 16: 17,076,293 (GRCm39) V374A possibly damaging Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Il17rc T C 6: 113,449,741 (GRCm39) S116P probably damaging Het
Krt34 A T 11: 99,929,226 (GRCm39) I328N probably damaging Het
Krt79 G A 15: 101,840,288 (GRCm39) R303C probably damaging Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lamb2 C T 9: 108,358,006 (GRCm39) T149I probably damaging Het
Mau2 T C 8: 70,480,153 (GRCm39) Y318C probably damaging Het
Mier2 T C 10: 79,377,496 (GRCm39) S486G probably benign Het
Mllt10 A G 2: 18,164,322 (GRCm39) D284G probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Ncoa6 A G 2: 155,248,133 (GRCm39) S1724P probably benign Het
Nipal4 T A 11: 46,052,922 (GRCm39) probably null Het
Nlrc4 G C 17: 74,753,736 (GRCm39) L216V probably benign Het
Ogfr A G 2: 180,235,417 (GRCm39) M164V possibly damaging Het
Or1o4 G T 17: 37,591,386 (GRCm39) probably benign Het
Or4b12 G A 2: 90,096,709 (GRCm39) Q22* probably null Het
Pcdha12 G T 18: 37,155,526 (GRCm39) W748C probably damaging Het
Pkd1l3 T C 8: 110,395,849 (GRCm39) V2083A probably damaging Het
Plin3 C A 17: 56,587,824 (GRCm39) G297V probably benign Het
Prex1 C T 2: 166,419,896 (GRCm39) R1260Q possibly damaging Het
Prpf38b A G 3: 108,818,619 (GRCm39) V47A probably benign Het
Ptch1 T C 13: 63,675,071 (GRCm39) T851A probably benign Het
Ptk7 T A 17: 46,887,744 (GRCm39) I563F possibly damaging Het
Ptprm A G 17: 67,116,466 (GRCm39) Y938H probably damaging Het
R3hcc1l G A 19: 42,507,203 (GRCm39) probably benign Het
Rapgef6 T C 11: 54,443,684 (GRCm39) V89A probably benign Het
Sh2b1 CTC CTCCGCCACGGGGACCAGTTC 7: 126,066,770 (GRCm39) probably benign Het
Sh2b1 AGCTCAGCCACGGGGACC AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 ACCAGCTC ACCAGCTCAGCCACGGGGGCCAGCTC 7: 126,066,765 (GRCm39) probably benign Het
Slain1 T A 14: 103,932,748 (GRCm39) V444E probably damaging Het
Slc10a5 T A 3: 10,400,532 (GRCm39) I43F possibly damaging Het
Smarca2 T C 19: 26,659,452 (GRCm39) F914S possibly damaging Het
Smarca5 A C 8: 81,428,840 (GRCm39) L1003V probably damaging Het
Spata18 A T 5: 73,829,840 (GRCm39) I332F Het
Spata31d1e A G 13: 59,890,806 (GRCm39) V338A probably damaging Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Tbx19 A G 1: 164,966,546 (GRCm39) S443P unknown Het
Tktl2 C G 8: 66,965,840 (GRCm39) A466G probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem129 A G 5: 33,815,122 (GRCm39) V17A probably benign Het
Tom1l2 T C 11: 60,153,486 (GRCm39) T164A probably damaging Het
Tor1aip1 T A 1: 155,906,177 (GRCm39) D205V probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Trim11 G T 11: 58,878,477 (GRCm39) A251S unknown Het
Trim33 T C 3: 103,239,074 (GRCm39) V684A probably benign Het
Triobp C T 15: 78,877,378 (GRCm39) R1637C probably damaging Het
Trpm3 A G 19: 22,960,040 (GRCm39) N1225S probably benign Het
Usp21 T C 1: 171,112,503 (GRCm39) Y300C probably damaging Het
Usp32 T C 11: 84,913,560 (GRCm39) T924A probably damaging Het
Vmn1r198 A T 13: 22,539,015 (GRCm39) H167L possibly damaging Het
Vmn2r23 A G 6: 123,689,672 (GRCm39) T183A probably benign Het
Zc3h8 T C 2: 128,773,223 (GRCm39) Y213C probably damaging Het
Zcchc17 A T 4: 130,232,337 (GRCm39) D55E probably benign Het
Zfp408 A T 2: 91,478,368 (GRCm39) W26R probably damaging Het
Zfp937 G T 2: 150,080,890 (GRCm39) A307S possibly 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
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
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
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'- GATTCTAGACTGCCCTGCTCAC -3'
(R):5'- TTGGACACAAATCTGGAAACG -3'

Sequencing Primer
(F):5'- TCAGGGGTTACTGAAGTCACC -3'
(R):5'- CGGAGGAAAAGAAACTCACTCAACTG -3'
Posted On 2022-07-18