Incidental Mutation 'R5782:Adamtsl3'
ID 447798
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 043379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5782 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 82189494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect probably null
Transcript: ENSMUST00000173287
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469

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 null
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A T 17: 33,652,735 (GRCm39) Q265L probably benign Het
Agt A T 8: 125,283,870 (GRCm39) probably null Het
Ankrd11 A G 8: 123,626,756 (GRCm39) L142P probably damaging Het
Arhgef19 C A 4: 140,983,623 (GRCm39) Q719K probably damaging Het
Armh3 A G 19: 45,874,466 (GRCm39) V569A probably benign Het
Atrnl1 G T 19: 57,741,718 (GRCm39) W1159L possibly damaging Het
Atxn2 T C 5: 121,935,373 (GRCm39) Y325H probably damaging Het
Brwd1 A T 16: 95,844,243 (GRCm39) Y770* probably null Het
Cdc20 T C 4: 118,290,239 (GRCm39) E474G probably benign Het
Cdk5rap3 A G 11: 96,802,412 (GRCm39) L254P probably benign Het
Cep83 A T 10: 94,584,894 (GRCm39) N333I probably damaging Het
Cox4i2 A C 2: 152,606,731 (GRCm39) D150A probably damaging Het
Cse1l A G 2: 166,770,921 (GRCm39) I314M probably damaging Het
Cuedc1 A G 11: 88,060,858 (GRCm39) Y67C probably damaging Het
Cyp2j9 C T 4: 96,462,142 (GRCm39) V380I probably benign Het
Fancd2 A G 6: 113,525,833 (GRCm39) N302S probably benign Het
Foxa1 T A 12: 57,589,302 (GRCm39) H306L probably benign Het
Gse1 T C 8: 121,293,260 (GRCm39) S204P probably damaging Het
Hspa13 C A 16: 75,554,985 (GRCm39) R367L probably damaging Het
Kcnk2 T G 1: 188,988,776 (GRCm39) D267A probably damaging Het
Kctd18 A G 1: 57,998,396 (GRCm39) Y68H probably damaging Het
Khdc4 T G 3: 88,618,985 (GRCm39) V563G probably damaging Het
Klf7 C T 1: 64,081,570 (GRCm39) E253K possibly damaging Het
Lcn12 A T 2: 25,383,769 (GRCm39) F34I probably damaging Het
Lrrk2 A T 15: 91,586,386 (GRCm39) R401W probably damaging Het
Lzts1 A T 8: 69,593,350 (GRCm39) S86T probably benign Het
Mtres1 T C 10: 43,408,899 (GRCm39) I81M probably benign Het
Mtus1 T A 8: 41,535,764 (GRCm39) I651F probably damaging Het
Myl2 T A 5: 122,242,933 (GRCm39) F106L probably damaging Het
Neb T A 2: 52,154,059 (GRCm39) K2351* probably null Het
Or14c45 T A 7: 86,176,421 (GRCm39) I152N probably damaging Het
Or52e5 T C 7: 104,718,956 (GRCm39) I94T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Parg A T 14: 31,996,862 (GRCm39) R318* probably null Het
Pcdhga3 C T 18: 37,809,353 (GRCm39) S602F possibly damaging Het
Pcnx2 A G 8: 126,480,223 (GRCm39) V2028A probably damaging Het
Pkhd1 T C 1: 20,128,824 (GRCm39) T3960A probably benign Het
Psen1 T A 12: 83,759,233 (GRCm39) H81Q possibly damaging Het
Psma6 A G 12: 55,457,041 (GRCm39) N109S possibly damaging Het
Ptpro A T 6: 137,376,496 (GRCm39) I659F possibly damaging Het
Rap1gds1 C G 3: 138,664,840 (GRCm39) E288D possibly damaging Het
Reln C T 5: 22,223,054 (GRCm39) R993K probably benign Het
Saxo1 T A 4: 86,364,044 (GRCm39) L146F probably damaging Het
Six4 A G 12: 73,150,832 (GRCm39) V571A probably benign Het
Slc2a10 C A 2: 165,356,758 (GRCm39) Y139* probably null Het
Slc34a1 A G 13: 55,550,501 (GRCm39) I66V possibly damaging Het
Slfn8 G T 11: 82,907,867 (GRCm39) N46K probably damaging Het
Smc6 G C 12: 11,340,835 (GRCm39) A496P probably damaging Het
Stk31 T G 6: 49,446,070 (GRCm39) N902K probably benign Het
Stk36 T A 1: 74,644,584 (GRCm39) Y114N possibly damaging Het
Sult2b1 C T 7: 45,380,770 (GRCm39) V271M probably damaging Het
Tenm4 A G 7: 96,542,246 (GRCm39) I1920V probably benign Het
Trbc2 A G 6: 41,523,871 (GRCm39) probably benign Het
Trpc2 A G 7: 101,733,186 (GRCm39) D419G possibly damaging Het
Trpm7 T C 2: 126,639,634 (GRCm39) N1654S probably benign Het
Tsku A T 7: 98,002,057 (GRCm39) D91E probably damaging Het
Ttn T A 2: 76,606,355 (GRCm39) R18151S probably damaging Het
Tyr C T 7: 87,142,224 (GRCm39) C112Y probably damaging Het
Ubash3a G A 17: 31,454,477 (GRCm39) G435S probably benign Het
Vav1 T C 17: 57,603,001 (GRCm39) I51T probably damaging Het
Vmn2r61 T A 7: 41,949,253 (GRCm39) C558S probably damaging Het
Zan C T 5: 137,418,269 (GRCm39) C2943Y unknown Het
Zfp1002 T C 2: 150,097,438 (GRCm39) E25G probably benign Het
Zfp267 T C 3: 36,219,128 (GRCm39) S384P possibly damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp575 C A 7: 24,285,027 (GRCm39) G205C possibly damaging Het
Zfp740 G T 15: 102,116,801 (GRCm39) probably benign Het
Zzz3 A G 3: 152,133,737 (GRCm39) E265G 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
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'- CTGGAATGTGTCACACTGGTC -3'
(R):5'- ACCCAGTTCTCGAGACACAG -3'

Sequencing Primer
(F):5'- GTCACACTGGTCTTAGCATGGAAC -3'
(R):5'- TTCTCGAGACACAGGGCTCTG -3'
Posted On 2016-12-15