Incidental Mutation 'R5323:Adamtsl3'
ID 500909
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 042906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5323 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82206269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 784 (C784S)
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: C784S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: C784S

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A T 12: 112,745,989 (GRCm39) probably benign Het
Apon A G 10: 128,090,907 (GRCm39) E195G probably damaging Het
Atxn10 A G 15: 85,275,944 (GRCm39) I334V probably benign Het
Camsap1 G T 2: 25,855,823 (GRCm39) A145E probably damaging Het
Capns1 G T 7: 29,887,147 (GRCm39) F243L possibly damaging Het
Catsper2 A T 2: 121,237,216 (GRCm39) I228N probably damaging Het
Ceacam14 A T 7: 17,549,402 (GRCm39) *264C probably null Het
Cel A C 2: 28,450,530 (GRCm39) V165G probably damaging Het
Cldnd1 T A 16: 58,550,016 (GRCm39) D66E possibly damaging Het
Cntnap5b T A 1: 100,311,275 (GRCm39) C589* probably null Het
Dnah3 T A 7: 119,620,234 (GRCm39) H1554L probably damaging Het
Fbxw25 T A 9: 109,492,573 (GRCm39) M55L probably benign Het
Fn1 T C 1: 71,636,591 (GRCm39) H2187R probably benign Het
Fsip2 A G 2: 82,818,489 (GRCm39) T4741A possibly damaging Het
Gabpa T A 16: 84,653,934 (GRCm39) I272N possibly damaging Het
Ganab T C 19: 8,886,049 (GRCm39) S212P probably benign Het
Ggt1 A G 10: 75,421,495 (GRCm39) probably null Het
Hpgds T C 6: 65,109,169 (GRCm39) T81A probably benign Het
Insr G A 8: 3,252,902 (GRCm39) T419I probably benign Het
Itgb7 A G 15: 102,140,059 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,799,289 (GRCm39) I951V possibly damaging Het
Lrrc4c T A 2: 97,460,498 (GRCm39) C375S probably damaging Het
Muc17 G T 5: 137,175,537 (GRCm39) C44* probably null Het
Mycbpap A T 11: 94,394,330 (GRCm39) D313E probably benign Het
Neo1 A G 9: 58,813,931 (GRCm39) probably null Het
Ntsr2 C T 12: 16,709,934 (GRCm39) S405F probably benign Het
Nup153 G A 13: 46,870,682 (GRCm39) P21S probably benign Het
Obscn T A 11: 58,887,703 (GRCm39) E7705D probably benign Het
Ogn A G 13: 49,762,817 (GRCm39) D53G probably benign Het
Or10d5j A T 9: 39,868,125 (GRCm39) Y35* probably null Het
Or14j10 A T 17: 37,935,046 (GRCm39) I160K probably benign Het
Or5k8 G A 16: 58,645,066 (GRCm39) T2I probably benign Het
Or5p5 T C 7: 107,413,883 (GRCm39) F33L possibly damaging Het
Or9i1b A T 19: 13,896,980 (GRCm39) I199F possibly damaging Het
Pde6a G A 18: 61,365,983 (GRCm39) R236H possibly damaging Het
Pigk T A 3: 152,443,837 (GRCm39) M85K probably damaging Het
Pirb A C 7: 3,719,598 (GRCm39) I516S possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pum2 T A 12: 8,794,706 (GRCm39) I737N probably damaging Het
Recql5 A T 11: 115,818,215 (GRCm39) C159S probably damaging Het
Rxrg A G 1: 167,452,573 (GRCm39) N125S probably benign Het
Sgip1 C A 4: 102,823,477 (GRCm39) N699K probably damaging Het
Shprh G A 10: 11,046,041 (GRCm39) probably null Het
Smcp C T 3: 92,491,454 (GRCm39) G131D unknown Het
St8sia6 A G 2: 13,798,188 (GRCm39) L23P possibly damaging Het
Stk32c T A 7: 138,699,276 (GRCm39) T335S probably benign Het
Stox1 G A 10: 62,499,812 (GRCm39) A916V possibly damaging Het
Syk A T 13: 52,785,753 (GRCm39) T297S probably benign Het
Tert G T 13: 73,796,490 (GRCm39) A1074S probably benign Het
Tex9 A T 9: 72,385,187 (GRCm39) D135E probably damaging Het
Tmem132a G A 19: 10,841,371 (GRCm39) H318Y possibly damaging Het
Ttn A G 2: 76,738,249 (GRCm39) S4097P probably benign Het
Ush2a A T 1: 188,553,874 (GRCm39) probably null Het
Usp36 A T 11: 118,156,020 (GRCm39) S586T probably benign Het
Vsig8 A G 1: 172,388,244 (GRCm39) S71G probably benign Het
Zfp318 G A 17: 46,697,662 (GRCm39) D173N probably damaging Het
Zfp638 T A 6: 83,939,076 (GRCm39) S936T probably damaging Het
Zic2 A G 14: 122,713,728 (GRCm39) Y214C 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
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
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'- ATCCTGAGGAATTCCCAGCC -3'
(R):5'- GTGTGGCTCTTACCTTCGAC -3'

Sequencing Primer
(F):5'- GAGGAAAAGCCGCATGCCTTAC -3'
(R):5'- ACCTTCGACCAGTCTCCGG -3'
Posted On 2017-12-01