Incidental Mutation 'R0010:Ylpm1'
ID 32504
Institutional Source Beutler Lab
Gene Symbol Ylpm1
Ensembl Gene ENSMUSG00000021244
Gene Name YLP motif containing 1
Synonyms A930013E17Rik, Zap3, ZAP
MMRRC Submission 038305-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0010 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 85043095-85117289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85075800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 384 (Q384K)
Ref Sequence ENSEMBL: ENSMUSP00000126347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021670] [ENSMUST00000101202] [ENSMUST00000164558] [ENSMUST00000168977]
AlphaFold Q9R0I7
Predicted Effect probably damaging
Transcript: ENSMUST00000021670
AA Change: Q842K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: Q842K

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: Q384K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: Q384K

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
Meta Mutation Damage Score 0.0838 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,410,607 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aoc1l3 A T 6: 48,965,840 (GRCm39) H616L probably damaging Het
Bbs7 T C 3: 36,661,866 (GRCm39) probably null Het
Cacna1h T C 17: 25,599,818 (GRCm39) K1566E probably damaging Het
Ccdc73 C T 2: 104,811,332 (GRCm39) probably benign Het
Cd74 A T 18: 60,942,143 (GRCm39) H124L probably benign Het
Cd74 A T 18: 60,936,968 (GRCm39) probably benign Het
Cdk5rap2 T C 4: 70,161,696 (GRCm39) E270G probably benign Het
Ces2a G A 8: 105,468,028 (GRCm39) D520N probably benign Het
Cldnd1 T A 16: 58,551,622 (GRCm39) probably benign Het
Cox17 T A 16: 38,167,532 (GRCm39) C24S possibly damaging Het
Cyp2b9 T A 7: 25,886,178 (GRCm39) probably benign Het
Dennd4a T C 9: 64,803,997 (GRCm39) L1112P probably benign Het
Dennd4c T C 4: 86,699,814 (GRCm39) S222P probably damaging Het
Dhx37 T A 5: 125,508,680 (GRCm39) Q85L probably benign Het
Egfem1 G T 3: 29,637,068 (GRCm39) C192F probably damaging Het
Eif3f A T 7: 108,540,212 (GRCm39) N336Y possibly damaging Het
Evc2 T A 5: 37,574,793 (GRCm39) L1016Q probably damaging Het
Fam114a2 G T 11: 57,404,982 (GRCm39) T40N probably damaging Het
Fam135b T C 15: 71,493,881 (GRCm39) K16R probably damaging Het
Fcho1 A G 8: 72,162,643 (GRCm39) Y725H probably damaging Het
Frem1 T C 4: 82,918,335 (GRCm39) I536V probably benign Het
Galnt2l G A 8: 122,997,337 (GRCm39) probably benign Het
Ginm1 T C 10: 7,651,138 (GRCm39) probably benign Het
Glrb A T 3: 80,767,622 (GRCm39) probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10320 T C 13: 98,626,054 (GRCm39) Y110C probably damaging Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gm5422 A G 10: 31,125,750 (GRCm39) noncoding transcript Het
Igkv6-29 A T 6: 70,115,754 (GRCm39) probably benign Het
Inpp5d G A 1: 87,625,268 (GRCm39) probably null Het
Itpr3 T G 17: 27,339,951 (GRCm39) V2610G probably damaging Het
Kmt5c T A 7: 4,749,207 (GRCm39) M88K probably benign Het
Lrp12 C T 15: 39,741,672 (GRCm39) A367T probably damaging Het
Ltbp1 A G 17: 75,670,386 (GRCm39) T1476A probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Milr1 T G 11: 106,657,829 (GRCm39) *209G probably null Het
Mitf A G 6: 97,784,242 (GRCm39) K33R probably benign Het
Mon2 A C 10: 122,868,599 (GRCm39) S485A probably damaging Het
Mpdu1 C T 11: 69,549,667 (GRCm39) G47R probably damaging Het
Ms4a4d A G 19: 11,532,190 (GRCm39) N112S probably damaging Het
Mybpc3 G A 2: 90,965,178 (GRCm39) W1082* probably null Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Naa15 A T 3: 51,343,634 (GRCm39) probably null Het
Nav3 A G 10: 109,659,087 (GRCm39) probably benign Het
Nek7 T A 1: 138,471,942 (GRCm39) Q66L possibly damaging Het
Nktr G A 9: 121,570,232 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,006 (GRCm39) probably benign Het
Npr1 T C 3: 90,362,139 (GRCm39) E1002G probably damaging Het
Nup133 A T 8: 124,631,318 (GRCm39) I1072N probably damaging Het
Oc90 C T 15: 65,748,397 (GRCm39) C371Y probably damaging Het
Or5ak24 A T 2: 85,260,239 (GRCm39) D311E probably benign Het
Or7g20 A T 9: 18,946,618 (GRCm39) L66F probably damaging Het
Or8b42 A T 9: 38,342,216 (GRCm39) I213F possibly damaging Het
Pradc1 A T 6: 85,424,213 (GRCm39) N44K probably damaging Het
Pradc1 T C 6: 85,424,602 (GRCm39) D116G probably damaging Het
Ptprk G A 10: 28,461,965 (GRCm39) C91Y probably damaging Het
Pus7 T C 5: 23,952,843 (GRCm39) I491V probably benign Het
Rock1 T A 18: 10,084,380 (GRCm39) D951V probably damaging Het
Scgb2b26 T A 7: 33,643,774 (GRCm39) E55D probably damaging Het
Scn8a T C 15: 100,911,454 (GRCm39) V958A probably damaging Het
Sec14l1 T C 11: 117,034,596 (GRCm39) probably benign Het
Sec24c A G 14: 20,739,329 (GRCm39) probably benign Het
Sema6b C T 17: 56,431,105 (GRCm39) E853K probably benign Het
Sgk1 G A 10: 21,873,337 (GRCm39) probably null Het
Shprh C T 10: 11,027,675 (GRCm39) T94I probably benign Het
Slc16a3 T C 11: 120,847,531 (GRCm39) S240P probably benign Het
Slc5a8 T C 10: 88,722,452 (GRCm39) V95A probably benign Het
Smg1 A T 7: 117,771,082 (GRCm39) probably benign Het
Spta1 G A 1: 174,045,509 (GRCm39) V1556I probably benign Het
Trappc14 T C 5: 138,258,555 (GRCm39) probably null Het
Trappc4 G A 9: 44,316,528 (GRCm39) probably benign Het
Tubgcp6 A G 15: 88,987,386 (GRCm39) S1188P probably benign Het
Txlna T G 4: 129,522,879 (GRCm39) D487A probably benign Het
Ube2d2b T C 5: 107,978,502 (GRCm39) F51S possibly damaging Het
Vmn2r6 G A 3: 64,466,966 (GRCm39) Q178* probably null Het
Wdfy3 T C 5: 101,996,215 (GRCm39) T3234A probably damaging Het
Zbtb41 T G 1: 139,351,268 (GRCm39) V127G probably damaging Het
Zfp605 T A 5: 110,275,400 (GRCm39) C173S probably benign Het
Zfp608 A T 18: 55,028,286 (GRCm39) probably benign Het
Zhx2 T C 15: 57,684,670 (GRCm39) V13A possibly 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
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
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'- TCCAAGCACTGCTGCCTTAACG -3'
(R):5'- CTGAGCTGCCTTGGTATCCTTGAC -3'

Sequencing Primer
(F):5'- CGTTTTGAAGGAAATCGCCC -3'
(R):5'- TGGTATCCTTGACATCTGCG -3'
Posted On 2013-05-09