Incidental Mutation 'R8211:Adamtsl3'
ID 636166
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 067634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8211 (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 C at 82172371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 445 (S445P)
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: S445P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: S445P

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
Allele List at MGI

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

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik A G 17: 47,201,309 (GRCm39) probably benign Het
Afp T C 5: 90,649,345 (GRCm39) I304T possibly damaging Het
Alk G A 17: 72,176,702 (GRCm39) A1534V probably benign Het
Ank3 C T 10: 69,703,228 (GRCm39) P287L unknown Het
Appl1 T C 14: 26,667,555 (GRCm39) I367V probably benign Het
Arpin T A 7: 79,584,992 (GRCm39) M1L probably damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
B430203G13Rik A T 12: 17,974,540 (GRCm39) H82L noncoding transcript Het
Bcl11a T A 11: 24,028,394 (GRCm39) S2T probably damaging Het
Cfap299 A G 5: 98,477,294 (GRCm39) I28V possibly damaging Het
Cfap46 T A 7: 139,213,220 (GRCm39) M1605L unknown Het
Chga C A 12: 102,527,678 (GRCm39) Q111K possibly damaging Het
Drc7 A G 8: 95,782,707 (GRCm39) E24G unknown Het
Dst T C 1: 34,251,532 (GRCm39) L2195P probably damaging Het
Enpp5 G A 17: 44,392,402 (GRCm39) probably null Het
Fat2 A G 11: 55,203,035 (GRCm39) L13P possibly damaging Het
Grhl1 T C 12: 24,636,151 (GRCm39) probably null Het
Ikbke A G 1: 131,199,515 (GRCm39) I326T probably damaging Het
Krt26 C T 11: 99,226,110 (GRCm39) D195N probably damaging Het
Lamc2 A T 1: 153,042,024 (GRCm39) C37S probably damaging Het
Lrriq1 A G 10: 103,006,408 (GRCm39) L1239P probably damaging Het
Mrps5 T A 2: 127,445,644 (GRCm39) H390Q probably benign Het
Nphp3 T A 9: 103,909,096 (GRCm39) C769S possibly damaging Het
Obscn A G 11: 59,006,620 (GRCm39) S1181P probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pabpc6 G T 17: 9,888,386 (GRCm39) A55E probably damaging Het
Pcdha9 A T 18: 37,131,912 (GRCm39) E327V possibly damaging Het
Pds5b A G 5: 150,652,407 (GRCm39) T225A possibly damaging Het
Pi4ka A C 16: 17,100,769 (GRCm39) I1807S Het
Pick1 T A 15: 79,132,930 (GRCm39) I330N probably damaging Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rubcn A C 16: 32,656,913 (GRCm39) C502W possibly damaging Het
Slc26a10 G A 10: 127,009,834 (GRCm39) R571C probably benign Het
Slc44a2 A T 9: 21,259,434 (GRCm39) N587Y probably damaging Het
Slfn2 T G 11: 82,960,585 (GRCm39) V188G possibly damaging Het
Smok2b T C 17: 13,454,680 (GRCm39) V280A probably benign Het
Snx19 A G 9: 30,348,761 (GRCm39) E798G probably benign Het
Sspo T C 6: 48,469,543 (GRCm39) probably null Het
Ugt2b37 T C 5: 87,390,235 (GRCm39) I404V probably benign Het
Vmn1r160 T C 7: 22,570,751 (GRCm39) F35L possibly damaging Het
Vmn1r193 A T 13: 22,403,286 (GRCm39) Y235* probably null Het
Vmn2r53 T C 7: 12,315,843 (GRCm39) I659V probably benign Het
Vmn2r91 A G 17: 18,326,762 (GRCm39) D349G probably damaging Het
Zfp292 A T 4: 34,806,163 (GRCm39) S2299T probably benign Het
Zfp938 T C 10: 82,062,419 (GRCm39) N67S 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
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
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'- GACTTTGACTTTCTATGATGCTCAG -3'
(R):5'- TCTCACCTGAGACCACTCCATG -3'

Sequencing Primer
(F):5'- AGCCCTTTGAAGGCTAACTG -3'
(R):5'- TCCATGGCAACCCACTTGG -3'
Posted On 2020-07-13