Incidental Mutation 'R7704:Adamts10'
ID 594211
Institutional Source Beutler Lab
Gene Symbol Adamts10
Ensembl Gene ENSMUSG00000024299
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 10
Synonyms ZnMP
MMRRC Submission 045765-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R7704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 33743178-33772756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33770126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1002 (C1002R)
Ref Sequence ENSEMBL: ENSMUSP00000084905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087605] [ENSMUST00000087623] [ENSMUST00000172922] [ENSMUST00000173013] [ENSMUST00000173030] [ENSMUST00000173241] [ENSMUST00000173372] [ENSMUST00000173931] [ENSMUST00000174695]
AlphaFold P58459
Predicted Effect probably benign
Transcript: ENSMUST00000087605
SMART Domains Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300

DomainStartEndE-ValueType
MYSc 11 691 N/A SMART
IQ 692 714 7.57e0 SMART
Pfam:Myosin_TH1 717 909 1.7e-51 PFAM
low complexity region 939 952 N/A INTRINSIC
low complexity region 973 987 N/A INTRINSIC
low complexity region 991 1001 N/A INTRINSIC
SH3 1044 1098 2.09e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087623
AA Change: C1002R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: C1002R

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 40 180 1.3e-33 PFAM
Pfam:Reprolysin_5 237 432 5e-15 PFAM
Pfam:Reprolysin_4 237 448 5e-11 PFAM
Pfam:Reprolysin 239 457 1.6e-25 PFAM
Pfam:Reprolysin_2 257 447 1.2e-13 PFAM
Pfam:Reprolysin_3 261 403 5.7e-13 PFAM
TSP1 550 602 7.21e-11 SMART
Pfam:ADAM_spacer1 706 818 1.3e-27 PFAM
TSP1 828 885 4.73e-6 SMART
TSP1 887 940 4.35e-2 SMART
TSP1 948 1003 2.66e-2 SMART
TSP1 1006 1058 9.98e-5 SMART
Pfam:PLAC 1070 1102 8.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172922
SMART Domains Protein: ENSMUSP00000133891
Gene: ENSMUSG00000024299

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 180 1.1e-30 PFAM
SCOP:d1bkca_ 238 271 4e-7 SMART
low complexity region 285 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173013
SMART Domains Protein: ENSMUSP00000134181
Gene: ENSMUSG00000024299

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 180 9.6e-31 PFAM
SCOP:d1bkca_ 238 271 3e-7 SMART
low complexity region 285 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173030
SMART Domains Protein: ENSMUSP00000134549
Gene: ENSMUSG00000024299

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 180 9.6e-31 PFAM
SCOP:d1bkca_ 238 271 3e-7 SMART
low complexity region 285 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173241
SMART Domains Protein: ENSMUSP00000134298
Gene: ENSMUSG00000024299

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 180 9.6e-31 PFAM
SCOP:d1bkca_ 238 271 3e-7 SMART
low complexity region 285 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173372
SMART Domains Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300

DomainStartEndE-ValueType
MYSc 11 691 N/A SMART
IQ 692 714 7.57e0 SMART
Pfam:Myosin_TH1 716 780 6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173931
SMART Domains Protein: ENSMUSP00000133434
Gene: ENSMUSG00000024299

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 180 9.6e-31 PFAM
SCOP:d1bkca_ 238 271 3e-7 SMART
low complexity region 285 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174348
SMART Domains Protein: ENSMUSP00000133856
Gene: ENSMUSG00000024299

DomainStartEndE-ValueType
Pfam:Reprolysin_5 23 220 2.6e-16 PFAM
Pfam:Reprolysin_4 23 235 2.6e-12 PFAM
Pfam:Reprolysin 25 243 1e-26 PFAM
Pfam:Reprolysin_2 43 233 7.1e-15 PFAM
Pfam:Reprolysin_3 47 189 4.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174695
SMART Domains Protein: ENSMUSP00000134600
Gene: ENSMUSG00000024300

DomainStartEndE-ValueType
Pfam:Myosin_head 47 98 1.3e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate a functional, zinc-dependent metallopeptidase enzyme. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 45,756,068 (GRCm39) W1458L probably damaging Het
Actn4 A T 7: 28,596,467 (GRCm39) I676N possibly damaging Het
Agbl2 A C 2: 90,619,349 (GRCm39) N58T probably benign Het
Akap12 A T 10: 4,306,082 (GRCm39) D1069V probably damaging Het
Bltp2 C A 11: 78,159,570 (GRCm39) Q540K probably benign Het
Cfap65 T A 1: 74,967,527 (GRCm39) T184S probably benign Het
Chd1 T C 17: 15,987,737 (GRCm39) V1517A probably benign Het
CN725425 T A 15: 91,119,993 (GRCm39) V38D possibly damaging Het
Copg1 T A 6: 87,884,940 (GRCm39) L712Q probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Ddx21 T C 10: 62,429,865 (GRCm39) Y293C probably damaging Het
Ddx46 C T 13: 55,821,832 (GRCm39) P839S probably benign Het
Dennd5a A G 7: 109,496,174 (GRCm39) V1164A possibly damaging Het
Dync1h1 T A 12: 110,632,200 (GRCm39) I4490N probably damaging Het
Ecm1 A C 3: 95,643,843 (GRCm39) Y236D probably damaging Het
Fat2 T C 11: 55,175,173 (GRCm39) T1847A probably benign Het
Galc T A 12: 98,175,102 (GRCm39) I567L probably benign Het
Gask1a C T 9: 121,780,151 (GRCm39) probably benign Het
H6pd T C 4: 150,067,360 (GRCm39) D350G probably benign Het
Ifi44 A G 3: 151,438,061 (GRCm39) Y409H probably benign Het
Kdm5a T G 6: 120,404,025 (GRCm39) F1210C probably damaging Het
Kdm5b C T 1: 134,515,669 (GRCm39) R98C probably damaging Het
Lipt1 T A 1: 37,915,043 (GRCm39) C366* probably null Het
Med13 G A 11: 86,236,744 (GRCm39) R138* probably null Het
Mterf1a A G 5: 3,941,845 (GRCm39) C8R probably benign Het
Ncapg2 A T 12: 116,382,897 (GRCm39) I243F probably damaging Het
Nop58 T C 1: 59,744,754 (GRCm39) S304P probably damaging Het
Nsd2 T C 5: 34,028,811 (GRCm39) *167Q probably null Het
Or1e30 T G 11: 73,678,616 (GRCm39) M284R probably damaging Het
Or2t35 T A 14: 14,407,867 (GRCm38) I213N probably damaging Het
Or52ab2 T A 7: 102,969,978 (GRCm39) M120K Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prdm16 C T 4: 154,425,947 (GRCm39) G613R probably damaging Het
Prss46 T C 9: 110,679,065 (GRCm39) S89P probably damaging Het
Scin T C 12: 40,174,687 (GRCm39) N132S possibly damaging Het
Sec14l2 T C 11: 4,058,574 (GRCm39) K196R probably benign Het
Sox17 C A 1: 4,563,895 (GRCm39) probably benign Het
Tango6 A G 8: 107,425,621 (GRCm39) T394A probably benign Het
Tbc1d22a T A 15: 86,250,876 (GRCm39) I398N probably damaging Het
Tdpoz8 A G 3: 92,981,752 (GRCm39) I183V probably benign Het
Tmem8b T C 4: 43,689,461 (GRCm39) V285A probably damaging Het
Tnfrsf11b T A 15: 54,123,497 (GRCm39) T35S probably benign Het
Unc13c T A 9: 73,606,494 (GRCm39) I1289F probably benign Het
Ust C T 10: 8,205,987 (GRCm39) V99I probably benign Het
Vmn1r76 A G 7: 11,664,344 (GRCm39) V290A probably benign Het
Vmn2r50 T C 7: 9,781,665 (GRCm39) N360S probably benign Het
Vmn2r93 T C 17: 18,536,910 (GRCm39) I531T probably benign Het
Zap70 T C 1: 36,818,395 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,630 (GRCm39) N443D probably benign Het
Other mutations in Adamts10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:Adamts10 APN 17 33,762,205 (GRCm39) missense probably benign 0.24
IGL01865:Adamts10 APN 17 33,772,140 (GRCm39) missense probably damaging 0.99
IGL02391:Adamts10 APN 17 33,747,785 (GRCm39) missense probably benign 0.00
IGL02711:Adamts10 APN 17 33,757,246 (GRCm39) missense probably damaging 0.99
R0122:Adamts10 UTSW 17 33,747,454 (GRCm39) unclassified probably benign
R0207:Adamts10 UTSW 17 33,764,364 (GRCm39) missense possibly damaging 0.64
R0481:Adamts10 UTSW 17 33,768,347 (GRCm39) nonsense probably null
R0508:Adamts10 UTSW 17 33,762,692 (GRCm39) missense probably damaging 1.00
R0558:Adamts10 UTSW 17 33,769,583 (GRCm39) missense probably benign 0.04
R0746:Adamts10 UTSW 17 33,768,521 (GRCm39) nonsense probably null
R1027:Adamts10 UTSW 17 33,762,737 (GRCm39) missense probably benign 0.44
R1449:Adamts10 UTSW 17 33,764,613 (GRCm39) missense probably damaging 0.96
R1471:Adamts10 UTSW 17 33,772,112 (GRCm39) missense probably damaging 1.00
R1522:Adamts10 UTSW 17 33,756,293 (GRCm39) missense probably benign 0.40
R1631:Adamts10 UTSW 17 33,756,316 (GRCm39) missense probably benign 0.25
R1863:Adamts10 UTSW 17 33,770,406 (GRCm39) critical splice donor site probably null
R1913:Adamts10 UTSW 17 33,768,529 (GRCm39) missense probably benign 0.00
R2091:Adamts10 UTSW 17 33,770,166 (GRCm39) critical splice donor site probably null
R2377:Adamts10 UTSW 17 33,747,866 (GRCm39) missense probably damaging 1.00
R3743:Adamts10 UTSW 17 33,747,686 (GRCm39) missense probably damaging 1.00
R4042:Adamts10 UTSW 17 33,768,514 (GRCm39) missense possibly damaging 0.69
R4646:Adamts10 UTSW 17 33,764,529 (GRCm39) missense probably damaging 1.00
R4654:Adamts10 UTSW 17 33,756,304 (GRCm39) missense possibly damaging 0.89
R4695:Adamts10 UTSW 17 33,750,713 (GRCm39) missense possibly damaging 0.95
R4721:Adamts10 UTSW 17 33,764,511 (GRCm39) splice site probably null
R4798:Adamts10 UTSW 17 33,747,726 (GRCm39) missense probably damaging 1.00
R4896:Adamts10 UTSW 17 33,747,870 (GRCm39) missense possibly damaging 0.90
R7454:Adamts10 UTSW 17 33,763,979 (GRCm39) missense possibly damaging 0.89
R7494:Adamts10 UTSW 17 33,768,352 (GRCm39) nonsense probably null
R7541:Adamts10 UTSW 17 33,750,590 (GRCm39) missense probably benign 0.00
R7955:Adamts10 UTSW 17 33,764,613 (GRCm39) missense probably damaging 0.96
R8154:Adamts10 UTSW 17 33,756,902 (GRCm39) missense probably damaging 1.00
R8895:Adamts10 UTSW 17 33,768,270 (GRCm39) missense probably damaging 1.00
R8986:Adamts10 UTSW 17 33,762,668 (GRCm39) missense probably benign 0.09
R9116:Adamts10 UTSW 17 33,756,330 (GRCm39) missense probably benign 0.31
Z1176:Adamts10 UTSW 17 33,747,762 (GRCm39) missense probably damaging 1.00
Z1176:Adamts10 UTSW 17 33,747,761 (GRCm39) missense probably damaging 1.00
Z1177:Adamts10 UTSW 17 33,764,568 (GRCm39) missense probably damaging 0.99
Z1177:Adamts10 UTSW 17 33,764,403 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- TGTGACACAGTCCTAGCACC -3'
(R):5'- CTTCAGTGCACTCTCGAGATG -3'

Sequencing Primer
(F):5'- TAGCACCCTGACCATCCATTG -3'
(R):5'- TGCACTCTCGAGATGGCTGG -3'
Posted On 2019-11-12