Incidental Mutation 'R1452:Ylpm1'
ID 161093
Institutional Source Beutler Lab
Gene Symbol Ylpm1
Ensembl Gene ENSMUSG00000021244
Gene Name YLP motif containing 1
Synonyms A930013E17Rik, Zap3, ZAP
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 85043095-85117289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85077157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1294 (I1294T)
Ref Sequence ENSEMBL: ENSMUSP00000021670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021670] [ENSMUST00000101202] [ENSMUST00000164558] [ENSMUST00000168977]
AlphaFold Q9R0I7
Predicted Effect possibly damaging
Transcript: ENSMUST00000021670
AA Change: I1294T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: I1294T

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 benign
Transcript: ENSMUST00000164558
AA Change: I836T

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: I836T

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 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Akt3 A T 1: 176,958,633 (GRCm39) Y26N possibly damaging Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Atrip T A 9: 108,901,727 (GRCm39) D110V probably damaging Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cd53 C T 3: 106,676,275 (GRCm39) G31S probably damaging Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Emsy G T 7: 98,249,881 (GRCm39) T802K probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or4c3d C T 2: 89,882,015 (GRCm39) V218I possibly damaging Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Slco1b2 A T 6: 141,617,926 (GRCm39) I424F probably benign Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L 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
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'- TGCTCCAATTGAGCGAGAAAGACTC -3'
(R):5'- TCTGACTGAGAACCATTACCCCTCC -3'

Sequencing Primer
(F):5'- GTGAACGTGACTATCAAGATGATAC -3'
(R):5'- CATGGGGGAATGTCTATCCACATC -3'
Posted On 2014-03-14