Incidental Mutation 'R5026:Adamtsl3'
ID 391349
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 042617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5026 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82225262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 357 (L357Q)
Ref Sequence ENSEMBL: ENSMUSP00000133337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect probably benign
Transcript: ENSMUST00000173287
AA Change: L1283Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: L1283Q

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
AA Change: L357Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469
AA Change: L357Q

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.7%
Validation Efficiency 96% (88/92)
Allele List at MGI

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

Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,356,383 (GRCm39) N608S probably benign Het
Actg1 T C 11: 120,237,784 (GRCm39) N7S probably damaging Het
Ahnak A T 19: 8,987,995 (GRCm39) Q3093L possibly damaging Het
Ankrd16 T A 2: 11,794,692 (GRCm39) V359E probably benign Het
Ankrd40 T C 11: 94,230,550 (GRCm39) probably benign Het
Ano10 G A 9: 122,101,625 (GRCm39) Q49* probably null Het
Aoah A T 13: 21,099,129 (GRCm39) D236V probably damaging Het
Bin1 T C 18: 32,552,983 (GRCm39) probably null Het
Braf T C 6: 39,665,221 (GRCm39) D49G probably benign Het
Brsk1 A T 7: 4,707,265 (GRCm39) R273W probably damaging Het
C2cd3 T A 7: 100,109,049 (GRCm39) M2259K possibly damaging Het
Cabp1 T C 5: 115,313,531 (GRCm39) N43D possibly damaging Het
Ccar2 T A 14: 70,379,951 (GRCm39) Q412L possibly damaging Het
Cd4 T C 6: 124,843,583 (GRCm39) T443A possibly damaging Het
Cdh23 T A 10: 60,140,627 (GRCm39) I3206F possibly damaging Het
Ceacam9 A T 7: 16,459,122 (GRCm39) probably null Het
Chid1 T C 7: 141,093,749 (GRCm39) D289G probably damaging Het
Chmp6 T A 11: 119,809,469 (GRCm39) L196Q probably damaging Het
Cog8 A G 8: 107,775,757 (GRCm39) S536P probably benign Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah7a T G 1: 53,701,657 (GRCm39) Y166S probably damaging Het
Dnah7b G T 1: 46,226,523 (GRCm39) W1318L probably damaging Het
Ecd A G 14: 20,387,098 (GRCm39) F212S probably damaging Het
Entpd6 A T 2: 150,605,564 (GRCm39) S265C probably damaging Het
Epb41l2 A G 10: 25,360,206 (GRCm39) T523A possibly damaging Het
Focad T C 4: 88,262,819 (GRCm39) S939P unknown Het
Gjb3 A T 4: 127,220,280 (GRCm39) V84D probably damaging Het
Gm572 A T 4: 148,739,301 (GRCm39) E43V possibly damaging Het
Gm6185 T A 1: 161,052,178 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,201,522 (GRCm39) C787S probably damaging Het
Grpel2 A G 18: 61,849,024 (GRCm39) L162P probably damaging Het
Herc1 A G 9: 66,393,408 (GRCm39) T4096A probably benign Het
Hook3 A T 8: 26,600,785 (GRCm39) M41K probably damaging Het
Ifit1bl1 T C 19: 34,571,293 (GRCm39) Y388C probably damaging Het
Ighv3-4 A G 12: 114,217,382 (GRCm39) Y70H probably benign Het
Itm2c T C 1: 85,834,213 (GRCm39) L176P probably damaging Het
Lmtk3 G A 7: 45,443,836 (GRCm39) probably benign Het
Macf1 G A 4: 123,333,287 (GRCm39) T2376I possibly damaging Het
Map1a T G 2: 121,138,019 (GRCm39) S2660A possibly damaging Het
Mmrn2 A G 14: 34,121,158 (GRCm39) H676R probably benign Het
Nbeal1 A T 1: 60,276,338 (GRCm39) K693M probably damaging Het
Ndufa13 T A 8: 70,347,920 (GRCm39) R49* probably null Het
Neb T A 2: 52,094,892 (GRCm39) T1115S possibly damaging Het
Nvl C T 1: 180,932,720 (GRCm39) R699H probably damaging Het
Or10w1 A G 19: 13,632,296 (GRCm39) I163V probably benign Het
Or5d47 A T 2: 87,804,364 (GRCm39) I215N probably damaging Het
Or8b53 A G 9: 38,667,041 (GRCm39) D19G probably benign Het
Or8d2b A T 9: 38,789,195 (GRCm39) H241L possibly damaging Het
Piezo1 G T 8: 123,213,557 (GRCm39) D1779E probably benign Het
Prl8a9 A G 13: 27,745,560 (GRCm39) S77P probably damaging Het
Prune2 A T 19: 17,176,506 (GRCm39) I2904F probably damaging Het
Retreg1 T A 15: 25,970,214 (GRCm39) S151T probably damaging Het
Rnf213 A G 11: 119,327,590 (GRCm39) D1859G probably damaging Het
Rnf39 T C 17: 37,256,426 (GRCm39) F173L probably benign Het
Rspry1 T A 8: 95,376,931 (GRCm39) N371K probably damaging Het
Samd9l T A 6: 3,375,284 (GRCm39) D659V possibly damaging Het
Sez6 T A 11: 77,859,815 (GRCm39) F378Y probably damaging Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Slit2 A T 5: 48,414,147 (GRCm39) N917I probably damaging Het
Smg1 T A 7: 117,792,768 (GRCm39) probably benign Het
Tes T C 6: 17,096,339 (GRCm39) V24A probably benign Het
Tial1 C T 7: 128,050,120 (GRCm39) E82K probably damaging Het
Tmem94 G A 11: 115,683,930 (GRCm39) C750Y probably damaging Het
Tmppe T A 9: 114,234,887 (GRCm39) N395K possibly damaging Het
Tnn T C 1: 159,973,707 (GRCm39) H220R probably benign Het
Trappc10 T C 10: 78,040,122 (GRCm39) T610A possibly damaging Het
Trmt1l T A 1: 151,316,627 (GRCm39) M196K probably damaging Het
Trpv4 T C 5: 114,760,715 (GRCm39) *872W probably null Het
Ttn T C 2: 76,579,353 (GRCm39) T23847A probably benign Het
Ube4b T A 4: 149,445,022 (GRCm39) L440F probably damaging Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Unc13c T A 9: 73,838,185 (GRCm39) T889S possibly damaging Het
Vmn1r215 C T 13: 23,260,449 (GRCm39) T163I probably benign Het
Vmn2r16 T A 5: 109,508,722 (GRCm39) Y483* probably null Het
Wdr47 T A 3: 108,525,838 (GRCm39) C120* probably null Het
Zc3h6 G A 2: 128,859,229 (GRCm39) V1087I probably benign Het
Zfp423 T C 8: 88,507,302 (GRCm39) H889R probably damaging Het
Zfp825 G T 13: 74,629,196 (GRCm39) H107N probably benign Het
Zfp945 T C 17: 23,069,859 (GRCm39) H680R probably 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
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'- CACCATTAGGACTCCATGCTTC -3'
(R):5'- GCCTTACAGATACTGTTTCCAGAG -3'

Sequencing Primer
(F):5'- ATGCTTCTCTCTAACCTGCAATGG -3'
(R):5'- GGCAGCATTCTAGGTTAATCCAGC -3'
Posted On 2016-06-06