Incidental Mutation 'R7846:Ylpm1'
ID 606635
Institutional Source Beutler Lab
Gene Symbol Ylpm1
Ensembl Gene ENSMUSG00000021244
Gene Name YLP motif containing 1
Synonyms A930013E17Rik, Zap3, ZAP
MMRRC Submission 045900-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7846 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 85043095-85117289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85104042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2019 (E2019G)
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: E2019G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: E2019G

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 possibly damaging
Transcript: ENSMUST00000101202
AA Change: E1266G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: E1266G

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 possibly damaging
Transcript: ENSMUST00000164558
AA Change: E1561G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: E1561G

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 possibly damaging
Transcript: ENSMUST00000168977
AA Change: E1313G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: E1313G

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: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 A G 5: 100,954,698 (GRCm39) V247A probably damaging Het
Acot13 G T 13: 25,002,133 (GRCm39) T103K probably damaging Het
Acsl6 A T 11: 54,251,901 (GRCm39) I683F probably damaging Het
Acss2 A T 2: 155,402,953 (GRCm39) H577L probably damaging Het
Ahctf1 A T 1: 179,614,638 (GRCm39) V382D probably damaging Het
Aldob T C 4: 49,538,858 (GRCm39) H220R probably damaging Het
Ankrd1 C T 19: 36,094,218 (GRCm39) V169M probably damaging Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Cep76 A G 18: 67,762,975 (GRCm39) F283L probably damaging Het
Chrna5 A T 9: 54,912,391 (GRCm39) D397V probably benign Het
Coro7 T C 16: 4,488,400 (GRCm39) D90G probably damaging Het
Csnk1g3 A G 18: 54,081,177 (GRCm39) N383D probably benign Het
Cwf19l2 C A 9: 3,477,889 (GRCm39) Q865K probably damaging Het
Cyth2 C A 7: 45,460,378 (GRCm39) W149C probably damaging Het
Dgkh C A 14: 78,856,026 (GRCm39) R349L probably damaging Het
Dnajc1 G T 2: 18,224,704 (GRCm39) T383N possibly damaging Het
Efcab3 T A 11: 104,605,571 (GRCm39) probably null Het
Extl3 A T 14: 65,313,181 (GRCm39) M667K probably damaging Het
Fam149a G T 8: 45,811,678 (GRCm39) A75E Het
Fgd4 T G 16: 16,240,590 (GRCm39) Q713P probably damaging Het
Frat2 T A 19: 41,836,215 (GRCm39) I46F probably damaging Het
Gzmc A G 14: 56,469,017 (GRCm39) V234A probably damaging Het
H2-Q4 A G 17: 35,599,134 (GRCm39) N135D probably damaging Het
Ighv1-85 A T 12: 115,963,937 (GRCm39) V21D possibly damaging Het
Itprid1 A G 6: 55,955,320 (GRCm39) Q976R possibly damaging Het
Kcna6 A T 6: 126,715,983 (GRCm39) V302E probably damaging Het
Kdm3b G T 18: 34,942,293 (GRCm39) V795L possibly damaging Het
Kdm5b G A 1: 134,545,578 (GRCm39) R913H probably damaging Het
Lpp T A 16: 24,426,876 (GRCm39) M1K probably null Het
Med12l T C 3: 59,172,355 (GRCm39) S1704P probably damaging Het
Mfsd10 G T 5: 34,793,456 (GRCm39) S95* probably null Het
Napepld C T 5: 21,880,721 (GRCm39) E225K probably benign Het
Ndfip2 T C 14: 105,535,448 (GRCm39) F245L probably damaging Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or10k2 A G 8: 84,268,526 (GRCm39) H251R probably damaging Het
Or13a20 C T 7: 140,232,374 (GRCm39) H161Y probably damaging Het
Or51i1 A G 7: 103,670,736 (GRCm39) I263T possibly damaging Het
Or52z15 A G 7: 103,332,407 (GRCm39) I161V probably benign Het
Or5p6 A G 7: 107,631,199 (GRCm39) I117T probably benign Het
Or8b47 A G 9: 38,435,675 (GRCm39) T216A probably benign Het
Pcdhgb2 A T 18: 37,825,273 (GRCm39) I755F possibly damaging Het
Pde4dip A G 3: 97,622,490 (GRCm39) L1573P probably damaging Het
Peg3 A T 7: 6,713,650 (GRCm39) V524E probably damaging Het
Phc1 G T 6: 122,310,329 (GRCm39) T126N probably damaging Het
Phf1 C A 17: 27,154,291 (GRCm39) Y169* probably null Het
Pramel25 A T 4: 143,520,563 (GRCm39) D269V probably benign Het
Prl3a1 G A 13: 27,456,442 (GRCm39) E99K probably damaging Het
Prss57 G A 10: 79,623,213 (GRCm39) A78V probably damaging Het
Ptprb A T 10: 116,119,453 (GRCm39) T196S probably benign Het
Rgsl1 A T 1: 153,701,783 (GRCm39) C224S possibly damaging Het
Rtn4 T C 11: 29,643,274 (GRCm39) V29A unknown Het
Selplg G A 5: 113,957,481 (GRCm39) T275M probably damaging Het
Skint11 C T 4: 114,102,076 (GRCm39) T363I possibly damaging Het
Slc22a29 T A 19: 8,170,851 (GRCm39) I289F probably benign Het
Slc26a2 A G 18: 61,331,776 (GRCm39) S552P probably benign Het
Sptb T A 12: 76,655,300 (GRCm39) K1480* probably null Het
Sptbn1 C A 11: 30,092,153 (GRCm39) M537I probably damaging Het
Sqor A T 2: 122,627,008 (GRCm39) H43L probably benign Het
Srcin1 C A 11: 97,416,926 (GRCm39) E913* probably null Het
Srgap1 A G 10: 121,621,397 (GRCm39) L1032P probably damaging Het
Stc2 T C 11: 31,315,413 (GRCm39) K142R probably benign Het
Stox1 A C 10: 62,495,305 (GRCm39) N989K probably damaging Het
Tert T A 13: 73,776,314 (GRCm39) L355H probably damaging Het
Tfb2m A G 1: 179,358,926 (GRCm39) F319S probably damaging Het
Trps1 A G 15: 50,695,273 (GRCm39) F341L probably damaging Het
Ttk T C 9: 83,725,732 (GRCm39) V218A probably benign Het
Vmn1r159 A G 7: 22,542,696 (GRCm39) I112T probably benign Het
Vps8 C A 16: 21,351,070 (GRCm39) Q916K probably benign Het
Wdr12 A T 1: 60,121,225 (GRCm39) D364E probably damaging Het
Zfp267 C A 3: 36,219,738 (GRCm39) T587N probably benign Het
Zfp507 A G 7: 35,493,963 (GRCm39) L360P 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
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
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'- CTGTAGTCTTTTAGTCCCACTTCAAAG -3'
(R):5'- ATAAAGAGCGTACATAGCCTCC -3'

Sequencing Primer
(F):5'- GTCCCACTTCAAAGTTCAGAGTG -3'
(R):5'- AGCGTACATAGCCTCCAGGAG -3'
Posted On 2019-12-20