Incidental Mutation 'R6737:Ylpm1'
ID 530264
Institutional Source Beutler Lab
Gene Symbol Ylpm1
Ensembl Gene ENSMUSG00000021244
Gene Name YLP motif containing 1
Synonyms A930013E17Rik, Zap3, ZAP
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6737 (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 A at 85077620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1448 (H1448Q)
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: H1448Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: H1448Q

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: H990Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: H990Q

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Eif2ak4 TGG TG 2: 118,292,749 (GRCm39) probably null Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Pcdhb5 T A 18: 37,455,723 (GRCm39) L701H probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Prep A T 10: 44,973,591 (GRCm39) K233I possibly damaging Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Sh3bp2 A G 5: 34,719,818 (GRCm39) Y609C probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Wfdc2 A T 2: 164,405,362 (GRCm39) K88* probably null Het
Zc3h14 A G 12: 98,751,305 (GRCm39) K667E probably damaging 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
R6379:Ylpm1 UTSW 12 85,077,574 (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
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'- TCCTGACAGAATGGACTGGG -3'
(R):5'- TAAGAAACAGGGTTTAAAGGGTTCC -3'

Sequencing Primer
(F):5'- CTGGGAAAGAGAACGGTTGTC -3'
(R):5'- GGTGGCATGCATCTTTAATCCCAG -3'
Posted On 2018-08-01