Incidental Mutation 'R0270:Adamtsl3'
ID 35219
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 038496-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0270 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82206032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 739 (R739Q)
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: R739Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: R739Q

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 probably benign
Transcript: ENSMUST00000173828
SMART Domains Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469

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
Meta Mutation Damage Score 0.7189 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 96.0%
  • 20x: 93.2%
Validation Efficiency 99% (113/114)
Allele List at MGI

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

Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,093,906 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,440 (GRCm39) N304K probably benign Het
Abcf3 T A 16: 20,378,918 (GRCm39) probably null Het
Acadm C T 3: 153,641,961 (GRCm39) M190I possibly damaging Het
Ank1 T A 8: 23,578,941 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,540,626 (GRCm39) probably benign Het
Arhgdib A G 6: 136,903,732 (GRCm39) V31A probably damaging Het
Arid4a A G 12: 71,119,406 (GRCm39) R342G probably damaging Het
Asic3 C T 5: 24,622,700 (GRCm39) L517F probably benign Het
Atxn7l1 C T 12: 33,392,150 (GRCm39) P242L possibly damaging Het
AY761185 T A 8: 21,434,616 (GRCm39) E37D possibly damaging Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Batf A T 12: 85,755,446 (GRCm39) T100S probably benign Het
Blcap A T 2: 157,399,897 (GRCm39) Y59* probably null Het
Cacnb3 G A 15: 98,540,440 (GRCm39) A350T probably damaging Het
Cdk15 T A 1: 59,349,965 (GRCm39) V319D probably damaging Het
Cenpf T C 1: 189,382,911 (GRCm39) H2661R probably benign Het
Cenpq T C 17: 41,240,941 (GRCm39) E106G probably damaging Het
Cfap43 A G 19: 47,785,642 (GRCm39) probably benign Het
Cfb G A 17: 35,079,362 (GRCm39) S778L possibly damaging Het
Clec2m A T 6: 129,302,571 (GRCm39) L152* probably null Het
Clspn T A 4: 126,467,029 (GRCm39) N631K probably damaging Het
Cntn2 T A 1: 132,449,462 (GRCm39) T660S probably damaging Het
Cntrob T A 11: 69,202,167 (GRCm39) H475L possibly damaging Het
Ddx46 T C 13: 55,821,917 (GRCm39) I863T probably benign Het
Dnah11 G A 12: 118,004,748 (GRCm39) T2191I probably damaging Het
Dock9 T C 14: 121,813,411 (GRCm39) T1703A probably benign Het
Fam13c C T 10: 70,380,343 (GRCm39) P424S probably benign Het
Fan1 T C 7: 63,998,619 (GRCm39) N968D probably benign Het
Fbxl20 A T 11: 97,989,329 (GRCm39) probably benign Het
Fkbp1b A T 12: 4,888,229 (GRCm39) probably benign Het
G930045G22Rik T A 6: 50,824,039 (GRCm39) noncoding transcript Het
Gm28042 C A 2: 119,872,073 (GRCm39) R1008S probably benign Het
Gon4l G A 3: 88,765,707 (GRCm39) S376N probably damaging Het
Gstt3 C A 10: 75,616,749 (GRCm39) R15L probably damaging Het
Gtdc1 A T 2: 44,642,186 (GRCm39) S73T possibly damaging Het
Hhatl A G 9: 121,613,786 (GRCm39) S419P probably benign Het
Hirip3 T G 7: 126,462,363 (GRCm39) S46R probably damaging Het
Hsf2 A G 10: 57,378,735 (GRCm39) T204A probably benign Het
Impg2 G A 16: 56,089,378 (GRCm39) E1108K possibly damaging Het
Itgb2l G T 16: 96,224,130 (GRCm39) probably benign Het
Itih5 A T 2: 10,256,075 (GRCm39) N847I probably benign Het
Kif1a T C 1: 92,982,164 (GRCm39) probably benign Het
Klhl1 T A 14: 96,755,780 (GRCm39) probably benign Het
Ktn1 T A 14: 47,952,119 (GRCm39) D963E probably benign Het
Lclat1 T A 17: 73,547,022 (GRCm39) V313E probably benign Het
Lrrn4 T C 2: 132,712,639 (GRCm39) S395G probably benign Het
Macroh2a1 G A 13: 56,243,927 (GRCm39) probably benign Het
Mbtps1 G A 8: 120,264,856 (GRCm39) probably benign Het
Me1 A G 9: 86,478,257 (GRCm39) probably benign Het
Mov10 C A 3: 104,702,721 (GRCm39) C948F probably benign Het
Mterf1a G A 5: 3,940,990 (GRCm39) Q293* probably null Het
Nfkb2 A T 19: 46,300,065 (GRCm39) M838L possibly damaging Het
Nhlrc2 T A 19: 56,540,302 (GRCm39) L97Q probably damaging Het
Nr6a1 A T 2: 38,629,032 (GRCm39) Y331N possibly damaging Het
Nup214 C T 2: 31,924,826 (GRCm39) A1785V probably damaging Het
Ogg1 C T 6: 113,306,217 (GRCm39) T138I probably benign Het
Or5ac20 A G 16: 59,104,116 (GRCm39) V248A probably damaging Het
Or5b107 A G 19: 13,143,251 (GRCm39) Y291C probably damaging Het
Or5b124 A G 19: 13,611,048 (GRCm39) Y191C probably damaging Het
Or7g17 T A 9: 18,768,127 (GRCm39) Y60N probably damaging Het
Plod2 G T 9: 92,466,574 (GRCm39) R178L probably benign Het
Polr3b T A 10: 84,554,339 (GRCm39) L1017Q probably benign Het
Postn C A 3: 54,291,971 (GRCm39) T724N probably damaging Het
Ppm1l T G 3: 69,225,309 (GRCm39) probably benign Het
Prpf8 T G 11: 75,396,075 (GRCm39) L1983R probably damaging Het
Psma7 A G 2: 179,681,193 (GRCm39) V59A probably benign Het
Qser1 T A 2: 104,619,306 (GRCm39) Y502F probably benign Het
Rad50 T C 11: 53,558,852 (GRCm39) D1129G probably damaging Het
Rasal1 C A 5: 120,812,794 (GRCm39) P606Q probably damaging Het
Rgs6 A G 12: 83,180,463 (GRCm39) Y438C probably damaging Het
Rnf180 A G 13: 105,388,774 (GRCm39) C73R probably benign Het
Rnf216 T A 5: 143,065,996 (GRCm39) I474F possibly damaging Het
Sdha A T 13: 74,480,366 (GRCm39) L371Q probably damaging Het
Sdk1 T G 5: 142,070,321 (GRCm39) L1162R possibly damaging Het
Sh3rf2 T C 18: 42,237,146 (GRCm39) I223T probably damaging Het
Sirpb1a A G 3: 15,475,587 (GRCm39) V316A probably damaging Het
Slc12a4 A T 8: 106,672,021 (GRCm39) I897N probably benign Het
Slc35d1 A T 4: 103,048,035 (GRCm39) V243E probably damaging Het
Slc4a11 T A 2: 130,532,852 (GRCm39) K200N possibly damaging Het
Slc9a8 T A 2: 167,293,216 (GRCm39) M188K probably damaging Het
Slco1a8 T A 6: 141,918,137 (GRCm39) I580F possibly damaging Het
Snrnp200 T C 2: 127,074,902 (GRCm39) S1492P probably damaging Het
Sphk2 T C 7: 45,360,149 (GRCm39) *618W probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tdpoz3 A G 3: 93,734,231 (GRCm39) N302S probably benign Het
Tdrd6 T C 17: 43,935,199 (GRCm39) M1950V probably benign Het
Tmem39a A G 16: 38,384,675 (GRCm39) probably benign Het
Trip4 A T 9: 65,765,640 (GRCm39) I353K probably damaging Het
Trip6 A T 5: 137,311,103 (GRCm39) F204L probably benign Het
Trpm4 T A 7: 44,968,677 (GRCm39) I419F possibly damaging Het
Ttn C A 2: 76,775,140 (GRCm39) E1967D probably damaging Het
Uba2 C T 7: 33,850,281 (GRCm39) V391M possibly damaging Het
Ubr4 T G 4: 139,206,746 (GRCm39) probably benign Het
Upf1 G A 8: 70,788,295 (GRCm39) probably benign Het
Vmn1r228 A C 17: 20,996,858 (GRCm39) V220G possibly damaging Het
Vmn2r79 A G 7: 86,652,594 (GRCm39) M429V probably benign Het
Vps36 C T 8: 22,700,472 (GRCm39) T210I possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Ybx1 C T 4: 119,138,788 (GRCm39) G126D probably benign Het
Yipf5 C A 18: 40,339,460 (GRCm39) probably benign Het
Zbtb47 A G 9: 121,596,641 (GRCm39) T666A probably benign Het
Zdhhc5 A C 2: 84,520,459 (GRCm39) S573A probably benign Het
Zfp457 A T 13: 67,441,991 (GRCm39) C99S probably damaging Het
Zfp52 T A 17: 21,781,564 (GRCm39) C471S probably damaging Het
Zfp558 C T 9: 18,379,252 (GRCm39) V71I probably damaging Het
Zfp655 A G 5: 145,181,267 (GRCm39) Y375C probably damaging Het
Zfp882 A T 8: 72,668,459 (GRCm39) T429S probably benign Het
Zmym2 T C 14: 57,187,141 (GRCm39) probably null 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
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
R7402:Adamtsl3 UTSW 7 82,227,825 (GRCm39) missense probably damaging 0.96
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'- GGGAAAGCAATCTACTCCCTGTCAC -3'
(R):5'- TAGTTTGCCACGCTGCTGTACC -3'

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