Incidental Mutation 'R7402:Adamtsl3'
ID 574267
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 045484-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82227825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1337 (V1337I)
Ref Sequence ENSEMBL: ENSMUSP00000133637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect probably damaging
Transcript: ENSMUST00000173287
AA Change: V1337I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: V1337I

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
TSP1 90 136 6.43e-8 SMART
TSP1 355 414 1.59e-1 SMART
TSP1 433 492 3.72e-4 SMART
TSP1 494 547 4.28e-4 SMART
TSP1 579 638 1.85e-2 SMART
TSP1 660 717 1.75e-2 SMART
TSP1 719 773 3.45e-8 SMART
TSP1 775 833 3.67e-3 SMART
TSP1 836 894 8.99e-2 SMART
IGc2 938 1002 7.59e-4 SMART
IG 1213 1296 4.87e0 SMART
IGc2 1326 1388 1.01e-13 SMART
TSP1 1441 1498 1.95e-2 SMART
TSP1 1500 1559 6.76e-2 SMART
TSP1 1616 1666 3.84e-1 SMART
Pfam:PLAC 1674 1704 2.4e-11 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469
AA Change: V411I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:IG 22 79 1e-26 BLAST
SCOP:d1biha4 27 77 2e-5 SMART
IG 283 366 4.87e0 SMART
IGc2 396 458 1.01e-13 SMART
TSP1 511 568 1.95e-2 SMART
TSP1 570 629 6.76e-2 SMART
TSP1 686 736 3.84e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)

Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,943,487 (GRCm39) P12Q probably damaging Het
Acsf3 A G 8: 123,507,163 (GRCm39) Y152C probably damaging Het
Adam22 T A 5: 8,145,049 (GRCm39) Q803L possibly damaging Het
Adra1b T C 11: 43,666,845 (GRCm39) D464G possibly damaging Het
Alpk3 T A 7: 80,726,660 (GRCm39) I115K probably benign Het
Amdhd2 A G 17: 24,380,657 (GRCm39) S96P Het
Ankib1 T G 5: 3,819,586 (GRCm39) D111A probably benign Het
Arhgef2 A G 3: 88,540,873 (GRCm39) D216G probably damaging Het
Astn1 A T 1: 158,380,425 (GRCm39) probably benign Het
Atosa C A 9: 74,913,668 (GRCm39) Y107* probably null Het
Atrn T A 2: 130,789,520 (GRCm39) W328R probably damaging Het
Atxn7 A T 14: 14,095,427 (GRCm38) H375L probably damaging Het
Btaf1 A T 19: 36,980,915 (GRCm39) N1579Y probably damaging Het
Cacna1b A T 2: 24,497,671 (GRCm39) L2079Q probably benign Het
Ccdc102a T C 8: 95,629,981 (GRCm39) K520R probably damaging Het
Cd2ap T C 17: 43,116,054 (GRCm39) H602R possibly damaging Het
Cdkn2aip A G 8: 48,164,408 (GRCm39) V435A possibly damaging Het
Cenpf A T 1: 189,391,575 (GRCm39) Y735* probably null Het
Cep350 T A 1: 155,803,961 (GRCm39) I1041L probably benign Het
Ckap4 A G 10: 84,363,863 (GRCm39) V400A probably damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Coq10b A C 1: 55,100,500 (GRCm39) K61N probably benign Het
Csmd2 G A 4: 128,215,889 (GRCm39) S548N Het
Csmd2 A C 4: 128,215,888 (GRCm39) S548R Het
Ctif A G 18: 75,744,807 (GRCm39) I99T probably benign Het
Ctns T G 11: 73,083,903 (GRCm39) T40P possibly damaging Het
Cyp11b1 C T 15: 74,712,674 (GRCm39) R129H probably damaging Het
Cyp2c68 A T 19: 39,729,318 (GRCm39) N56K probably benign Het
D6Wsu163e A G 6: 126,938,968 (GRCm39) K401R probably damaging Het
Dstn T A 2: 143,780,368 (GRCm39) C23S probably benign Het
Fam72a A T 1: 131,466,613 (GRCm39) E132D probably damaging Het
Fam72a G T 1: 131,466,614 (GRCm39) E133* probably null Het
Gbp8 T A 5: 105,179,161 (GRCm39) I113F probably damaging Het
Gm3095 A T 14: 15,170,332 (GRCm39) R60S possibly damaging Het
Gpa33 A T 1: 165,980,263 (GRCm39) M109L probably damaging Het
Grik2 A G 10: 49,411,493 (GRCm39) L215P probably damaging Het
Gucy2g A C 19: 55,194,725 (GRCm39) F897L probably damaging Het
Hinfp A G 9: 44,209,314 (GRCm39) L295P probably damaging Het
Ift122 T C 6: 115,871,283 (GRCm39) V526A probably benign Het
Ighv5-12 T C 12: 113,665,853 (GRCm39) T82A probably benign Het
Il18rap T A 1: 40,564,111 (GRCm39) S76R probably benign Het
Itga6 A T 2: 71,683,897 (GRCm39) N1045I probably benign Het
Kctd21 A T 7: 96,996,970 (GRCm39) I148F possibly damaging Het
Kif28 T A 1: 179,567,644 (GRCm39) H42L probably benign Het
Kmt2c A C 5: 25,600,418 (GRCm39) C326W probably damaging Het
Knl1 T A 2: 118,925,707 (GRCm39) L1912* probably null Het
Lrfn1 A T 7: 28,158,947 (GRCm39) I289F probably damaging Het
Lrriq1 T C 10: 103,057,185 (GRCm39) K205R possibly damaging Het
Mbd5 A T 2: 49,147,566 (GRCm39) N592I probably damaging Het
Mbl2 A G 19: 30,216,802 (GRCm39) N205D possibly damaging Het
Mcm4 C A 16: 15,455,042 (GRCm39) M1I probably null Het
Mgat4a T A 1: 37,493,865 (GRCm39) H327L probably damaging Het
Miox A G 15: 89,219,206 (GRCm39) D16G probably benign Het
Mvk C A 5: 114,594,039 (GRCm39) P298Q possibly damaging Het
Nol6 A G 4: 41,118,699 (GRCm39) L726P probably damaging Het
Nos1 T C 5: 118,087,880 (GRCm39) I1381T probably benign Het
Nup98 A T 7: 101,784,144 (GRCm39) S1063T probably benign Het
Obscn T G 11: 58,886,275 (GRCm39) M7862L unknown Het
Obsl1 T C 1: 75,464,348 (GRCm39) T1653A probably benign Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or4c105 G T 2: 88,647,687 (GRCm39) M57I probably damaging Het
Or8g53 T A 9: 39,683,260 (GRCm39) T279S probably benign Het
Or8u9 A G 2: 86,001,546 (GRCm39) I205T probably benign Het
Or9q2 C T 19: 13,772,358 (GRCm39) V206I probably damaging Het
Pcdhb20 A G 18: 37,638,005 (GRCm39) Y177C probably benign Het
Pcdhb3 A C 18: 37,434,657 (GRCm39) I208L probably benign Het
Phlpp1 G T 1: 106,317,420 (GRCm39) G1214W probably damaging Het
Ppp4r3a A T 12: 101,025,053 (GRCm39) S149T possibly damaging Het
Pxdn T C 12: 30,052,438 (GRCm39) C872R probably damaging Het
Rarb A G 14: 16,548,419 (GRCm38) C101R probably damaging Het
Rcor3 A C 1: 191,812,283 (GRCm39) V114G probably benign Het
Rnpepl1 A G 1: 92,847,372 (GRCm39) Q653R probably benign Het
Rpap2 T A 5: 107,768,324 (GRCm39) Y387* probably null Het
Rttn C T 18: 89,004,035 (GRCm39) T343M possibly damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Six5 T C 7: 18,828,968 (GRCm39) L136P probably damaging Het
Slc12a5 T A 2: 164,824,852 (GRCm39) M419K probably benign Het
Slc22a21 T C 11: 53,851,226 (GRCm39) M179V probably benign Het
Slc35a4 A G 18: 36,813,570 (GRCm39) D6G unknown Het
Spdye4c A T 2: 128,434,261 (GRCm39) M1L probably benign Het
Svep1 A T 4: 58,069,699 (GRCm39) C2696S possibly damaging Het
Tceanc2 T C 4: 107,004,893 (GRCm39) N85S probably benign Het
Teddm2 G C 1: 153,726,344 (GRCm39) L124V probably benign Het
Teddm2 A T 1: 153,726,343 (GRCm39) L124Q probably damaging Het
Tgfbr1 T A 4: 47,405,623 (GRCm39) W409R probably damaging Het
Tkt A G 14: 30,280,755 (GRCm39) D62G probably damaging Het
Tnrc6b T A 15: 80,768,501 (GRCm39) V1054D probably damaging Het
Trpm7 C A 2: 126,641,126 (GRCm39) L1564F probably damaging Het
Vmn1r43 A T 6: 89,846,803 (GRCm39) C228S probably benign Het
Vmn2r106 T C 17: 20,487,883 (GRCm39) R839G probably damaging Het
Vmn2r5 G A 3: 64,403,176 (GRCm39) T523I probably benign Het
Vwa3b C T 1: 37,153,678 (GRCm39) Q507* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfp281 T G 1: 136,553,190 (GRCm39) L56R probably damaging Het
Zfp407 G A 18: 84,579,661 (GRCm39) T484I probably benign Het
Zfp451 T C 1: 33,852,843 (GRCm39) T24A probably benign Het
Zfp607b T A 7: 27,392,919 (GRCm39) F16I probably damaging Het
Zfp638 T A 6: 83,905,670 (GRCm39) V41E possibly damaging Het
Other mutations in Adamtsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Adamtsl3 APN 7 82,261,656 (GRCm39) missense probably damaging 1.00
IGL01936:Adamtsl3 APN 7 82,244,579 (GRCm39) missense possibly damaging 0.93
IGL02819:Adamtsl3 APN 7 82,223,329 (GRCm39) missense probably damaging 0.99
P0012:Adamtsl3 UTSW 7 82,223,465 (GRCm39) missense probably benign 0.27
R0096:Adamtsl3 UTSW 7 82,114,907 (GRCm39) intron probably benign
R0096:Adamtsl3 UTSW 7 82,114,907 (GRCm39) intron probably benign
R0180:Adamtsl3 UTSW 7 82,225,198 (GRCm39) missense probably benign 0.00
R0270:Adamtsl3 UTSW 7 82,206,032 (GRCm39) missense probably damaging 1.00
R0295:Adamtsl3 UTSW 7 82,197,213 (GRCm39) critical splice donor site probably null
R0329:Adamtsl3 UTSW 7 82,171,198 (GRCm39) missense probably damaging 1.00
R0330:Adamtsl3 UTSW 7 82,171,198 (GRCm39) missense probably damaging 1.00
R0548:Adamtsl3 UTSW 7 82,178,191 (GRCm39) critical splice donor site probably null
R0611:Adamtsl3 UTSW 7 82,178,120 (GRCm39) missense probably damaging 1.00
R0671:Adamtsl3 UTSW 7 82,172,390 (GRCm39) missense probably damaging 1.00
R0711:Adamtsl3 UTSW 7 82,114,907 (GRCm39) intron probably benign
R0845:Adamtsl3 UTSW 7 82,225,204 (GRCm39) missense probably damaging 1.00
R1119:Adamtsl3 UTSW 7 82,189,525 (GRCm39) missense probably damaging 0.96
R1458:Adamtsl3 UTSW 7 82,172,528 (GRCm39) missense probably damaging 1.00
R1644:Adamtsl3 UTSW 7 82,099,298 (GRCm39) missense possibly damaging 0.87
R1691:Adamtsl3 UTSW 7 82,148,814 (GRCm39) missense probably damaging 1.00
R1838:Adamtsl3 UTSW 7 82,142,581 (GRCm39) missense probably damaging 1.00
R2131:Adamtsl3 UTSW 7 82,227,802 (GRCm39) missense probably damaging 1.00
R2245:Adamtsl3 UTSW 7 82,099,308 (GRCm39) missense probably damaging 1.00
R2274:Adamtsl3 UTSW 7 82,255,766 (GRCm39) missense probably benign 0.37
R2275:Adamtsl3 UTSW 7 82,255,766 (GRCm39) missense probably benign 0.37
R2448:Adamtsl3 UTSW 7 82,148,956 (GRCm39) missense probably damaging 1.00
R3725:Adamtsl3 UTSW 7 82,261,612 (GRCm39) missense possibly damaging 0.80
R3757:Adamtsl3 UTSW 7 81,986,415 (GRCm39) missense probably benign 0.01
R3821:Adamtsl3 UTSW 7 82,255,687 (GRCm39) splice site probably benign
R4618:Adamtsl3 UTSW 7 82,255,728 (GRCm39) missense probably benign 0.41
R4842:Adamtsl3 UTSW 7 82,178,069 (GRCm39) missense probably damaging 1.00
R4887:Adamtsl3 UTSW 7 82,223,822 (GRCm39) missense possibly damaging 0.87
R4888:Adamtsl3 UTSW 7 82,223,822 (GRCm39) missense possibly damaging 0.87
R4925:Adamtsl3 UTSW 7 82,251,507 (GRCm39) critical splice donor site probably null
R4960:Adamtsl3 UTSW 7 82,216,185 (GRCm39) missense probably damaging 0.99
R5026:Adamtsl3 UTSW 7 82,225,262 (GRCm39) missense probably benign 0.07
R5152:Adamtsl3 UTSW 7 82,223,752 (GRCm39) missense probably benign 0.11
R5198:Adamtsl3 UTSW 7 82,261,006 (GRCm39) missense possibly damaging 0.63
R5244:Adamtsl3 UTSW 7 82,247,277 (GRCm39) missense probably benign 0.02
R5281:Adamtsl3 UTSW 7 82,178,142 (GRCm39) missense probably damaging 1.00
R5323:Adamtsl3 UTSW 7 82,206,269 (GRCm39) missense probably damaging 1.00
R5523:Adamtsl3 UTSW 7 82,223,650 (GRCm39) missense possibly damaging 0.86
R5602:Adamtsl3 UTSW 7 82,206,447 (GRCm39) missense possibly damaging 0.89
R5638:Adamtsl3 UTSW 7 82,260,958 (GRCm39) missense probably damaging 0.99
R5682:Adamtsl3 UTSW 7 82,255,758 (GRCm39) missense probably damaging 0.99
R5782:Adamtsl3 UTSW 7 82,189,494 (GRCm39) splice site probably null
R5946:Adamtsl3 UTSW 7 82,225,265 (GRCm39) missense probably damaging 0.98
R6091:Adamtsl3 UTSW 7 82,114,829 (GRCm39) missense probably damaging 1.00
R6258:Adamtsl3 UTSW 7 82,178,191 (GRCm39) critical splice donor site probably null
R6500:Adamtsl3 UTSW 7 82,227,818 (GRCm39) missense probably benign 0.00
R6765:Adamtsl3 UTSW 7 82,216,232 (GRCm39) missense possibly damaging 0.60
R6785:Adamtsl3 UTSW 7 82,171,212 (GRCm39) missense probably damaging 0.99
R6982:Adamtsl3 UTSW 7 82,164,271 (GRCm39) missense probably damaging 1.00
R7109:Adamtsl3 UTSW 7 82,261,069 (GRCm39) missense
R7341:Adamtsl3 UTSW 7 82,206,082 (GRCm39) missense probably damaging 1.00
R7506:Adamtsl3 UTSW 7 82,164,186 (GRCm39) missense probably damaging 1.00
R7549:Adamtsl3 UTSW 7 82,223,117 (GRCm39) missense probably damaging 1.00
R7575:Adamtsl3 UTSW 7 82,223,756 (GRCm39) missense possibly damaging 0.85
R7592:Adamtsl3 UTSW 7 81,986,459 (GRCm39) missense probably benign 0.00
R7617:Adamtsl3 UTSW 7 82,206,054 (GRCm39) splice site probably null
R7654:Adamtsl3 UTSW 7 82,223,702 (GRCm39) missense probably benign
R7721:Adamtsl3 UTSW 7 82,255,728 (GRCm39) missense possibly damaging 0.62
R7784:Adamtsl3 UTSW 7 82,223,197 (GRCm39) missense probably damaging 1.00
R7858:Adamtsl3 UTSW 7 82,099,371 (GRCm39) missense probably damaging 1.00
R8109:Adamtsl3 UTSW 7 82,251,487 (GRCm39) missense possibly damaging 0.94
R8125:Adamtsl3 UTSW 7 82,099,541 (GRCm39) splice site probably null
R8211:Adamtsl3 UTSW 7 82,172,371 (GRCm39) missense probably damaging 1.00
R8348:Adamtsl3 UTSW 7 82,253,007 (GRCm39) missense possibly damaging 0.89
R8360:Adamtsl3 UTSW 7 82,197,187 (GRCm39) missense probably damaging 1.00
R8448:Adamtsl3 UTSW 7 82,253,007 (GRCm39) missense possibly damaging 0.89
R8465:Adamtsl3 UTSW 7 82,247,330 (GRCm39) missense probably benign 0.43
R8547:Adamtsl3 UTSW 7 82,077,621 (GRCm39) missense probably damaging 1.00
R8551:Adamtsl3 UTSW 7 82,189,678 (GRCm39) missense probably benign 0.34
R8558:Adamtsl3 UTSW 7 82,077,600 (GRCm39) missense possibly damaging 0.59
R8709:Adamtsl3 UTSW 7 82,077,642 (GRCm39) missense possibly damaging 0.94
R8722:Adamtsl3 UTSW 7 82,244,745 (GRCm39) critical splice donor site probably null
R8930:Adamtsl3 UTSW 7 82,261,069 (GRCm39) missense
R8932:Adamtsl3 UTSW 7 82,261,069 (GRCm39) missense
R9131:Adamtsl3 UTSW 7 82,244,722 (GRCm39) missense probably benign 0.00
R9169:Adamtsl3 UTSW 7 82,223,188 (GRCm39) missense probably damaging 0.99
R9272:Adamtsl3 UTSW 7 82,189,753 (GRCm39) missense probably damaging 1.00
R9276:Adamtsl3 UTSW 7 82,206,710 (GRCm39) intron probably benign
R9351:Adamtsl3 UTSW 7 82,169,929 (GRCm39) missense possibly damaging 0.94
R9352:Adamtsl3 UTSW 7 82,091,656 (GRCm39) missense probably damaging 1.00
R9749:Adamtsl3 UTSW 7 82,099,394 (GRCm39) missense probably benign 0.04
R9750:Adamtsl3 UTSW 7 82,244,589 (GRCm39) missense probably benign 0.11
RF005:Adamtsl3 UTSW 7 82,261,603 (GRCm39) missense
X0003:Adamtsl3 UTSW 7 82,260,967 (GRCm39) nonsense probably null
X0063:Adamtsl3 UTSW 7 82,223,365 (GRCm39) missense probably benign 0.25
Z1088:Adamtsl3 UTSW 7 82,189,533 (GRCm39) missense probably damaging 1.00
Z1088:Adamtsl3 UTSW 7 82,148,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCTTGTCATTGAACAAGAGC -3'
(R):5'- GAGAGATACTTTGTACGTATGCATG -3'

Sequencing Primer
(F):5'- GCTTGTCATTGAACAAGAGCTTAAAC -3'
(R):5'- GCATGCTTCAGATCTGAACG -3'
Posted On 2019-09-13