Incidental Mutation 'R6379:Ylpm1'
ID 515219
Institutional Source Beutler Lab
Gene Symbol Ylpm1
Ensembl Gene ENSMUSG00000021244
Gene Name YLP motif containing 1
Synonyms A930013E17Rik, Zap3, ZAP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6379 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 85043095-85117289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85077574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 1433 (S1433F)
Ref Sequence ENSEMBL: ENSMUSP00000021670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021670] [ENSMUST00000101202] [ENSMUST00000164558] [ENSMUST00000168977]
AlphaFold Q9R0I7
Predicted Effect probably damaging
Transcript: ENSMUST00000021670
AA Change: S1433F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: S1433F

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 31 50 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 94 114 N/A INTRINSIC
low complexity region 139 225 N/A INTRINSIC
low complexity region 226 253 N/A INTRINSIC
low complexity region 341 382 N/A INTRINSIC
low complexity region 389 407 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 455 464 N/A INTRINSIC
low complexity region 538 654 N/A INTRINSIC
low complexity region 688 696 N/A INTRINSIC
low complexity region 751 763 N/A INTRINSIC
internal_repeat_1 771 840 4.03e-5 PROSPERO
low complexity region 841 854 N/A INTRINSIC
low complexity region 966 972 N/A INTRINSIC
internal_repeat_1 1062 1124 4.03e-5 PROSPERO
low complexity region 1252 1266 N/A INTRINSIC
low complexity region 1275 1293 N/A INTRINSIC
low complexity region 1326 1338 N/A INTRINSIC
low complexity region 1339 1353 N/A INTRINSIC
low complexity region 1408 1425 N/A INTRINSIC
coiled coil region 1447 1474 N/A INTRINSIC
low complexity region 1494 1517 N/A INTRINSIC
low complexity region 1518 1532 N/A INTRINSIC
low complexity region 1536 1557 N/A INTRINSIC
low complexity region 1598 1630 N/A INTRINSIC
low complexity region 1678 1694 N/A INTRINSIC
low complexity region 1705 1717 N/A INTRINSIC
low complexity region 1720 1736 N/A INTRINSIC
low complexity region 1797 1808 N/A INTRINSIC
Pfam:AAA_33 1829 1990 7.8e-11 PFAM
coiled coil region 1995 2032 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101202
SMART Domains Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 31 50 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 94 114 N/A INTRINSIC
low complexity region 139 206 N/A INTRINSIC
low complexity region 294 335 N/A INTRINSIC
low complexity region 342 360 N/A INTRINSIC
low complexity region 375 388 N/A INTRINSIC
low complexity region 408 417 N/A INTRINSIC
low complexity region 491 607 N/A INTRINSIC
low complexity region 641 649 N/A INTRINSIC
low complexity region 741 764 N/A INTRINSIC
low complexity region 765 779 N/A INTRINSIC
low complexity region 783 804 N/A INTRINSIC
low complexity region 845 877 N/A INTRINSIC
low complexity region 925 941 N/A INTRINSIC
low complexity region 952 964 N/A INTRINSIC
low complexity region 967 983 N/A INTRINSIC
low complexity region 1044 1055 N/A INTRINSIC
Pfam:AAA_33 1076 1265 4.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164558
AA Change: S975F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: S975F

DomainStartEndE-ValueType
low complexity region 80 196 N/A INTRINSIC
low complexity region 230 238 N/A INTRINSIC
low complexity region 293 305 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 508 514 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
low complexity region 817 835 N/A INTRINSIC
low complexity region 868 880 N/A INTRINSIC
low complexity region 881 895 N/A INTRINSIC
low complexity region 950 967 N/A INTRINSIC
coiled coil region 989 1016 N/A INTRINSIC
low complexity region 1036 1059 N/A INTRINSIC
low complexity region 1060 1074 N/A INTRINSIC
low complexity region 1078 1099 N/A INTRINSIC
low complexity region 1140 1172 N/A INTRINSIC
low complexity region 1220 1236 N/A INTRINSIC
low complexity region 1247 1259 N/A INTRINSIC
low complexity region 1262 1278 N/A INTRINSIC
low complexity region 1339 1350 N/A INTRINSIC
Pfam:AAA_33 1371 1559 5.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168977
SMART Domains Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 31 50 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 94 114 N/A INTRINSIC
low complexity region 139 225 N/A INTRINSIC
low complexity region 226 253 N/A INTRINSIC
low complexity region 341 382 N/A INTRINSIC
low complexity region 389 407 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 455 464 N/A INTRINSIC
low complexity region 538 654 N/A INTRINSIC
low complexity region 688 696 N/A INTRINSIC
low complexity region 788 811 N/A INTRINSIC
low complexity region 812 826 N/A INTRINSIC
low complexity region 830 851 N/A INTRINSIC
low complexity region 892 924 N/A INTRINSIC
low complexity region 972 988 N/A INTRINSIC
low complexity region 999 1011 N/A INTRINSIC
low complexity region 1014 1030 N/A INTRINSIC
low complexity region 1091 1102 N/A INTRINSIC
Pfam:AAA_33 1123 1311 4.5e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,269,912 (GRCm39) R21S probably benign Het
Aadacl4fm1 G T 4: 144,248,912 (GRCm39) R93L probably benign Het
Adcy5 A T 16: 35,114,369 (GRCm39) T991S probably benign Het
Aldh18a1 A T 19: 40,566,214 (GRCm39) probably null Het
Anxa1 T C 19: 20,351,079 (GRCm39) *347W probably null Het
Aopep T A 13: 63,216,057 (GRCm39) I443K probably damaging Het
Arid1a G T 4: 133,408,238 (GRCm39) L2090I unknown Het
Armh3 A T 19: 45,910,136 (GRCm39) V472D possibly damaging Het
Bambi T A 18: 3,512,198 (GRCm39) L194Q probably damaging Het
Card9 A G 2: 26,246,789 (GRCm39) V353A probably damaging Het
Ccdc198 T A 14: 49,481,191 (GRCm39) I99F probably benign Het
Ccdc60 C A 5: 116,269,082 (GRCm39) probably null Het
Ccdc71 A G 9: 108,340,811 (GRCm39) K208R possibly damaging Het
Cdh12 T C 15: 21,492,743 (GRCm39) V254A probably benign Het
Cep295nl T A 11: 118,224,556 (GRCm39) N96I probably benign Het
Ces1f C A 8: 94,006,279 (GRCm39) C17F probably benign Het
Clic6 C A 16: 92,336,423 (GRCm39) T577K probably damaging Het
Col28a1 T C 6: 8,012,996 (GRCm39) M1019V probably benign Het
Ctnnd2 C A 15: 30,634,844 (GRCm39) S73Y probably damaging Het
Daam1 C T 12: 71,998,712 (GRCm39) L556F unknown Het
Dchs2 A C 3: 83,262,453 (GRCm39) N2907T probably damaging Het
Dlgap3 A C 4: 127,128,767 (GRCm39) E829A probably damaging Het
Dpysl5 A T 5: 30,935,317 (GRCm39) probably null Het
Draxin C A 4: 148,192,400 (GRCm39) C304F probably damaging Het
Eif3j1 A G 2: 121,878,005 (GRCm39) D131G possibly damaging Het
Fads1 T C 19: 10,160,551 (GRCm39) Y46H probably damaging Het
Fcgbpl1 A C 7: 27,857,017 (GRCm39) T2122P probably damaging Het
Figla T A 6: 85,995,562 (GRCm39) I72K probably damaging Het
Fnbp4 T A 2: 90,581,468 (GRCm39) S174T probably benign Het
Foxn3 C A 12: 99,162,537 (GRCm39) A455S probably benign Het
Fyn C T 10: 39,331,070 (GRCm39) probably benign Het
Gtse1 G A 15: 85,748,425 (GRCm39) G277S probably benign Het
H2bc15 T A 13: 21,938,588 (GRCm39) V99E probably benign Het
Icam4 C A 9: 20,941,078 (GRCm39) A110E probably damaging Het
Itih3 G A 14: 30,631,681 (GRCm39) S802L probably damaging Het
Kcng4 T A 8: 120,360,359 (GRCm39) R6* probably null Het
Kmt2c A T 5: 25,564,339 (GRCm39) C977S probably damaging Het
Lrrc8d A T 5: 105,960,675 (GRCm39) M362L probably benign Het
Mtus2 T C 5: 148,014,008 (GRCm39) I267T probably benign Het
Nab1 A G 1: 52,520,156 (GRCm39) V275A probably damaging Het
Nfasc G A 1: 132,498,280 (GRCm39) Q1308* probably null Het
Nop9 T C 14: 55,983,249 (GRCm39) S7P possibly damaging Het
Npbwr1 G T 1: 5,987,438 (GRCm39) N25K probably benign Het
Nptx2 T C 5: 144,490,252 (GRCm39) L227P probably damaging Het
Nrg1 T C 8: 33,373,749 (GRCm39) probably benign Het
Nup160 T A 2: 90,532,753 (GRCm39) C571* probably null Het
Nynrin T C 14: 56,107,848 (GRCm39) L985P probably damaging Het
Obsl1 A C 1: 75,479,787 (GRCm39) L341R probably damaging Het
Or1r1 T G 11: 73,875,099 (GRCm39) S112R probably damaging Het
Pate7 T A 9: 35,689,381 (GRCm39) probably benign Het
Phip G T 9: 82,795,910 (GRCm39) N570K probably damaging Het
Pigx A T 16: 31,903,341 (GRCm39) I240N probably damaging Het
Platr25 T C 13: 62,854,051 (GRCm39) D37G probably damaging Het
Ppl A T 16: 4,915,555 (GRCm39) M639K probably benign Het
Scnn1b T G 7: 121,514,551 (GRCm39) M441R probably benign Het
Sh3gl1 A T 17: 56,326,143 (GRCm39) M121K probably damaging Het
Slc30a4 A T 2: 122,531,469 (GRCm39) V132D probably damaging Het
Slc38a7 A G 8: 96,575,155 (GRCm39) S42P probably benign Het
Slc66a1 G A 4: 139,027,296 (GRCm39) L349F probably benign Het
Srp68 A G 11: 116,156,227 (GRCm39) C172R probably damaging Het
Suz12 A T 11: 79,906,014 (GRCm39) D292V possibly damaging Het
Sv2b A T 7: 74,786,048 (GRCm39) D457E possibly damaging Het
Tas2r120 T C 6: 132,634,773 (GRCm39) V285A probably benign Het
Tdo2 T A 3: 81,866,102 (GRCm39) probably benign Het
Them7 G T 2: 105,115,031 (GRCm39) probably null Het
Tnip2 T C 5: 34,660,979 (GRCm39) T158A probably damaging Het
Tonsl C T 15: 76,513,942 (GRCm39) R1209H probably benign Het
Trpc2 T A 7: 101,745,298 (GRCm39) L838* probably null Het
Trpm1 A G 7: 63,848,942 (GRCm39) I63V probably benign Het
Vps13d A T 4: 144,814,828 (GRCm39) N90K probably benign Het
Zbtb18 A G 1: 177,275,141 (GRCm39) D158G probably damaging Het
Zfhx2 T A 14: 55,311,795 (GRCm39) T300S probably benign Het
Zscan2 T A 7: 80,513,085 (GRCm39) D23E probably benign Het
Other mutations in Ylpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ylpm1 APN 12 85,075,728 (GRCm39) missense possibly damaging 0.93
IGL00809:Ylpm1 APN 12 85,095,968 (GRCm39) missense probably damaging 0.99
IGL01508:Ylpm1 APN 12 85,062,229 (GRCm39) missense possibly damaging 0.74
IGL02199:Ylpm1 APN 12 85,080,779 (GRCm39) nonsense probably null
IGL02392:Ylpm1 APN 12 85,061,731 (GRCm39) missense unknown
IGL02455:Ylpm1 APN 12 85,077,037 (GRCm39) missense probably damaging 1.00
IGL02506:Ylpm1 APN 12 85,095,965 (GRCm39) missense probably damaging 1.00
IGL03102:Ylpm1 APN 12 85,096,032 (GRCm39) splice site probably benign
I1329:Ylpm1 UTSW 12 85,087,654 (GRCm39) missense probably damaging 1.00
IGL02799:Ylpm1 UTSW 12 85,091,258 (GRCm39) missense probably damaging 1.00
R0010:Ylpm1 UTSW 12 85,075,800 (GRCm39) missense probably damaging 0.97
R0090:Ylpm1 UTSW 12 85,075,814 (GRCm39) intron probably benign
R0149:Ylpm1 UTSW 12 85,075,612 (GRCm39) missense probably damaging 0.99
R0226:Ylpm1 UTSW 12 85,096,511 (GRCm39) missense probably benign 0.21
R0375:Ylpm1 UTSW 12 85,061,754 (GRCm39) missense unknown
R0378:Ylpm1 UTSW 12 85,043,850 (GRCm39) intron probably benign
R0507:Ylpm1 UTSW 12 85,075,886 (GRCm39) missense probably benign 0.03
R0742:Ylpm1 UTSW 12 85,075,886 (GRCm39) missense probably benign 0.03
R1350:Ylpm1 UTSW 12 85,060,856 (GRCm39) unclassified probably benign
R1452:Ylpm1 UTSW 12 85,077,157 (GRCm39) missense possibly damaging 0.94
R1500:Ylpm1 UTSW 12 85,061,770 (GRCm39) missense unknown
R1837:Ylpm1 UTSW 12 85,076,107 (GRCm39) missense possibly damaging 0.92
R1945:Ylpm1 UTSW 12 85,062,192 (GRCm39) missense probably damaging 0.98
R1971:Ylpm1 UTSW 12 85,087,560 (GRCm39) missense probably damaging 1.00
R2211:Ylpm1 UTSW 12 85,091,152 (GRCm39) nonsense probably null
R2213:Ylpm1 UTSW 12 85,116,492 (GRCm39) missense probably benign 0.25
R2269:Ylpm1 UTSW 12 85,061,824 (GRCm39) missense unknown
R2300:Ylpm1 UTSW 12 85,107,093 (GRCm39) splice site probably null
R2439:Ylpm1 UTSW 12 85,060,891 (GRCm39) unclassified probably benign
R2497:Ylpm1 UTSW 12 85,043,535 (GRCm39) missense probably damaging 0.98
R2890:Ylpm1 UTSW 12 85,076,587 (GRCm39) missense probably damaging 0.99
R3111:Ylpm1 UTSW 12 85,076,145 (GRCm39) missense probably damaging 0.98
R3436:Ylpm1 UTSW 12 85,096,644 (GRCm39) critical splice donor site probably null
R3437:Ylpm1 UTSW 12 85,096,644 (GRCm39) critical splice donor site probably null
R4156:Ylpm1 UTSW 12 85,104,177 (GRCm39) intron probably benign
R4157:Ylpm1 UTSW 12 85,104,177 (GRCm39) intron probably benign
R4959:Ylpm1 UTSW 12 85,096,719 (GRCm39) missense probably damaging 1.00
R5014:Ylpm1 UTSW 12 85,061,523 (GRCm39) missense unknown
R5039:Ylpm1 UTSW 12 85,089,013 (GRCm39) missense probably damaging 1.00
R5039:Ylpm1 UTSW 12 85,062,267 (GRCm39) missense probably damaging 0.98
R5084:Ylpm1 UTSW 12 85,076,095 (GRCm39) missense probably damaging 0.99
R5325:Ylpm1 UTSW 12 85,060,735 (GRCm39) unclassified probably benign
R5378:Ylpm1 UTSW 12 85,077,029 (GRCm39) missense probably damaging 0.99
R5428:Ylpm1 UTSW 12 85,077,003 (GRCm39) missense probably benign 0.04
R5467:Ylpm1 UTSW 12 85,043,633 (GRCm39) missense unknown
R5605:Ylpm1 UTSW 12 85,075,627 (GRCm39) missense probably damaging 1.00
R5614:Ylpm1 UTSW 12 85,111,718 (GRCm39) intron probably benign
R5748:Ylpm1 UTSW 12 85,107,025 (GRCm39) splice site probably null
R5860:Ylpm1 UTSW 12 85,087,660 (GRCm39) missense probably damaging 1.00
R5861:Ylpm1 UTSW 12 85,087,660 (GRCm39) missense probably damaging 1.00
R5881:Ylpm1 UTSW 12 85,088,899 (GRCm39) missense probably damaging 1.00
R5909:Ylpm1 UTSW 12 85,087,660 (GRCm39) missense probably damaging 1.00
R5912:Ylpm1 UTSW 12 85,087,660 (GRCm39) missense probably damaging 1.00
R5915:Ylpm1 UTSW 12 85,087,660 (GRCm39) missense probably damaging 1.00
R6000:Ylpm1 UTSW 12 85,044,030 (GRCm39) missense unknown
R6004:Ylpm1 UTSW 12 85,075,858 (GRCm39) missense possibly damaging 0.78
R6007:Ylpm1 UTSW 12 85,076,064 (GRCm39) missense probably benign 0.33
R6053:Ylpm1 UTSW 12 85,043,277 (GRCm39) missense possibly damaging 0.72
R6104:Ylpm1 UTSW 12 85,076,404 (GRCm39) missense probably benign 0.00
R6197:Ylpm1 UTSW 12 85,088,953 (GRCm39) missense probably damaging 1.00
R6293:Ylpm1 UTSW 12 85,062,051 (GRCm39) missense unknown
R6297:Ylpm1 UTSW 12 85,062,051 (GRCm39) missense unknown
R6305:Ylpm1 UTSW 12 85,077,319 (GRCm39) missense probably damaging 1.00
R6465:Ylpm1 UTSW 12 85,096,576 (GRCm39) missense probably damaging 1.00
R6608:Ylpm1 UTSW 12 85,062,051 (GRCm39) missense unknown
R6609:Ylpm1 UTSW 12 85,062,051 (GRCm39) missense unknown
R6737:Ylpm1 UTSW 12 85,077,620 (GRCm39) missense probably damaging 0.98
R6794:Ylpm1 UTSW 12 85,043,655 (GRCm39) missense unknown
R7383:Ylpm1 UTSW 12 85,091,242 (GRCm39) missense possibly damaging 0.93
R7514:Ylpm1 UTSW 12 85,077,268 (GRCm39) missense possibly damaging 0.94
R7577:Ylpm1 UTSW 12 85,043,994 (GRCm39) missense unknown
R7709:Ylpm1 UTSW 12 85,059,799 (GRCm39) missense unknown
R7718:Ylpm1 UTSW 12 85,075,896 (GRCm39) missense probably damaging 0.99
R7736:Ylpm1 UTSW 12 85,059,757 (GRCm39) missense unknown
R7758:Ylpm1 UTSW 12 85,061,796 (GRCm39) missense unknown
R7807:Ylpm1 UTSW 12 85,060,855 (GRCm39) nonsense probably null
R7838:Ylpm1 UTSW 12 85,095,640 (GRCm39) missense possibly damaging 0.90
R7846:Ylpm1 UTSW 12 85,104,042 (GRCm39) missense probably damaging 0.98
R8170:Ylpm1 UTSW 12 85,080,801 (GRCm39) missense probably benign 0.40
R8776:Ylpm1 UTSW 12 85,077,195 (GRCm39) missense probably damaging 1.00
R8776-TAIL:Ylpm1 UTSW 12 85,077,195 (GRCm39) missense probably damaging 1.00
R8812:Ylpm1 UTSW 12 85,043,566 (GRCm39) missense unknown
R8847:Ylpm1 UTSW 12 85,061,672 (GRCm39) missense unknown
R8874:Ylpm1 UTSW 12 85,116,394 (GRCm39) missense probably damaging 1.00
R9129:Ylpm1 UTSW 12 85,104,052 (GRCm39) missense
R9165:Ylpm1 UTSW 12 85,077,342 (GRCm39) missense probably damaging 1.00
R9198:Ylpm1 UTSW 12 85,080,689 (GRCm39) critical splice acceptor site probably null
R9564:Ylpm1 UTSW 12 85,091,176 (GRCm39) missense probably benign 0.30
R9629:Ylpm1 UTSW 12 85,044,036 (GRCm39) missense unknown
R9797:Ylpm1 UTSW 12 85,077,109 (GRCm39) missense possibly damaging 0.86
Z1088:Ylpm1 UTSW 12 85,076,929 (GRCm39) missense possibly damaging 0.95
Z1176:Ylpm1 UTSW 12 85,077,058 (GRCm39) missense possibly damaging 0.93
Z1177:Ylpm1 UTSW 12 85,104,057 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGGTATGACCGAGATTTCCG -3'
(R):5'- GAAACAGGGTTTAAAGGGTTCC -3'

Sequencing Primer
(F):5'- ATGACCGAGATTTCCGTGATAG -3'
(R):5'- GGTGGCATGCATCTTTAATCCCAG -3'
Posted On 2018-05-04