Incidental Mutation 'R8109:Adamtsl3'
ID 643868
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 067538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8109 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82251487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1494 (I1494N)
Ref Sequence ENSEMBL: ENSMUSP00000133637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000173287
AA Change: I1494N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: I1494N

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: I568N

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (47/48)
Allele List at MGI

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

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,767,284 (GRCm39) V130A probably benign Het
Acte1 C T 7: 143,451,203 (GRCm39) probably null Het
Adamts12 A C 15: 11,331,877 (GRCm39) K1465T probably benign Het
Adamtsl1 T C 4: 86,166,306 (GRCm39) V223A Het
Ank3 T C 10: 69,826,148 (GRCm39) Y1606H Het
Arhgap32 A G 9: 32,093,150 (GRCm39) I168V probably benign Het
Atxn7l2 G A 3: 108,110,617 (GRCm39) R675C probably damaging Het
Brcc3dc A G 10: 108,535,520 (GRCm39) M145T probably damaging Het
Bst2 A T 8: 71,989,990 (GRCm39) W28R probably damaging Het
Cadps T A 14: 12,488,975 (GRCm38) T861S probably benign Het
Ceacam11 A G 7: 17,709,243 (GRCm39) Y147C probably benign Het
Clasp2 T A 9: 113,740,588 (GRCm39) N1187K probably damaging Het
Dcaf7 T C 11: 105,937,604 (GRCm39) W76R probably damaging Het
Ephb1 G A 9: 101,918,222 (GRCm39) T429I probably damaging Het
Flg A T 3: 93,197,734 (GRCm39) Q21L unknown Het
Flrt2 T C 12: 95,747,333 (GRCm39) V557A probably benign Het
Gdpgp1 T C 7: 79,888,581 (GRCm39) V204A probably damaging Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Jph2 T C 2: 163,181,206 (GRCm39) K653E probably benign Het
Kmt2c T C 5: 25,486,382 (GRCm39) S4724G probably damaging Het
Llgl2 T C 11: 115,741,619 (GRCm39) V583A possibly damaging Het
Met T C 6: 17,562,236 (GRCm39) V1199A probably damaging Het
Mmp25 A G 17: 23,863,768 (GRCm39) W21R probably benign Het
Nsun4 A T 4: 115,909,040 (GRCm39) C507S probably benign Het
Or1j19 T A 2: 36,676,618 (GRCm39) M27K probably benign Het
Pard6g T C 18: 80,160,658 (GRCm39) V257A possibly damaging Het
Pcdh1 A G 18: 38,332,049 (GRCm39) V457A probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Plpp6 T A 19: 28,941,891 (GRCm39) M164K possibly damaging Het
Rhobtb2 C A 14: 70,038,080 (GRCm39) R60L probably damaging Het
Rsph10b A C 5: 143,922,348 (GRCm39) I845L probably benign Het
Sdf4 C T 4: 156,094,295 (GRCm39) A325V probably damaging Het
Slc4a3 A G 1: 75,528,448 (GRCm39) D481G possibly damaging Het
Smo A G 6: 29,755,522 (GRCm39) Y398C probably damaging Het
Sox18 A G 2: 181,313,293 (GRCm39) Y8H possibly damaging Het
Sycp1 A T 3: 102,758,918 (GRCm39) S780T probably benign Het
Tdg T A 10: 82,480,353 (GRCm39) V239E probably damaging Het
Tenm2 T C 11: 35,899,137 (GRCm39) T2675A probably benign Het
Thrap3 C A 4: 126,080,273 (GRCm39) R31L unknown Het
Tinagl1 T A 4: 130,063,123 (GRCm39) I149F probably damaging Het
Tnc A G 4: 63,927,000 (GRCm39) V842A probably benign Het
Tpm3-rs7 A G 14: 113,552,772 (GRCm39) D222G probably benign Het
Ube4a T C 9: 44,846,781 (GRCm39) I773V probably benign Het
Vmn1r229 T C 17: 21,035,268 (GRCm39) V171A probably benign Het
Zc3hav1 T C 6: 38,306,114 (GRCm39) E646G probably damaging Het
Zfp341 A T 2: 154,469,820 (GRCm39) M168L probably benign Het
Zfp874a A C 13: 67,597,563 (GRCm39) D13E 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
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
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'- CTTTCTGCAGAGCACTTTTGG -3'
(R):5'- CTGTTAAACAGTCCAAATTGCTGTC -3'

Sequencing Primer
(F):5'- TGCAGAGCACTTTTGGGAACC -3'
(R):5'- GCATGATGCATTCAGAGGCC -3'
Posted On 2020-09-02