Incidental Mutation 'R9749:Adamtsl3'
ID 732410
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9749 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82099394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 183 (S183G)
Ref Sequence ENSEMBL: ENSMUSP00000133637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect probably benign
Transcript: ENSMUST00000173287
AA Change: S183G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: S183G

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: 99.8%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,080,521 (GRCm39) I382F possibly damaging Het
Adamtsl4 T C 3: 95,591,457 (GRCm39) H170R probably benign Het
Adcy2 T C 13: 68,773,974 (GRCm39) D1023G probably damaging Het
Agrn C A 4: 156,258,114 (GRCm39) V1083F probably benign Het
Arhgap21 T C 2: 20,854,026 (GRCm39) T1789A probably benign Het
Atr T C 9: 95,819,703 (GRCm39) probably null Het
Bcl2l13 T C 6: 120,842,633 (GRCm39) S109P possibly damaging Het
Bik A T 15: 83,425,540 (GRCm39) T14S possibly damaging Het
Car7 A G 8: 105,275,054 (GRCm39) D164G probably damaging Het
Cat T A 2: 103,285,445 (GRCm39) K499M probably benign Het
Ccar2 T A 14: 70,388,728 (GRCm39) Q161L probably benign Het
Cd109 T G 9: 78,592,166 (GRCm39) V760G probably damaging Het
Cep350 A T 1: 155,828,985 (GRCm39) H246Q probably benign Het
Cfap91 A G 16: 38,128,487 (GRCm39) I496T probably damaging Het
Chst13 T C 6: 90,295,251 (GRCm39) D54G probably damaging Het
Cilk1 T A 9: 78,060,999 (GRCm39) V215E probably damaging Het
Col4a4 A G 1: 82,463,353 (GRCm39) S1046P unknown Het
Col6a5 T C 9: 105,739,190 (GRCm39) Q2581R probably damaging Het
Cox5b-ps G A 13: 21,685,515 (GRCm39) A25V probably benign Het
Csmd2 A T 4: 128,389,921 (GRCm39) I2219F Het
Cux2 G A 5: 122,007,780 (GRCm39) S627L possibly damaging Het
Cyp2a22 A T 7: 26,638,715 (GRCm39) W24R probably null Het
Dhrs7c A T 11: 67,702,479 (GRCm39) T156S probably damaging Het
Dnah9 A G 11: 65,986,202 (GRCm39) V1144A probably damaging Het
Folh1 T C 7: 86,368,908 (GRCm39) T740A probably damaging Het
Foxo4 G A X: 100,301,955 (GRCm39) S209N probably benign Het
Gm10300 A G 4: 131,802,029 (GRCm39) T8A unknown Het
Gns T A 10: 121,214,057 (GRCm39) I244N probably benign Het
Gsdmd A G 15: 75,735,411 (GRCm39) K52E probably damaging Het
H1f0 A G 15: 78,913,217 (GRCm39) D99G probably benign Het
Hapln4 T C 8: 70,539,724 (GRCm39) Y252H probably damaging Het
Hmcn1 A C 1: 150,632,339 (GRCm39) I866S possibly damaging Het
Hrnr C T 3: 93,231,384 (GRCm39) R541C unknown Het
Igkv4-57-1 A G 6: 69,521,408 (GRCm39) I98T probably damaging Het
Itih3 T A 14: 30,641,279 (GRCm39) D253V probably damaging Het
Kansl1l T A 1: 66,760,970 (GRCm39) E869D probably damaging Het
Kif13a T C 13: 46,914,227 (GRCm39) Q502R probably damaging Het
Lama5 T A 2: 179,825,433 (GRCm39) Q2447L probably benign Het
Lcn6 A T 2: 25,570,034 (GRCm39) M1L probably benign Het
Lrrtm1 T C 6: 77,220,855 (GRCm39) V104A probably damaging Het
Map3k13 T C 16: 21,740,581 (GRCm39) L636P probably benign Het
Melk T A 4: 44,307,067 (GRCm39) H74Q possibly damaging Het
Mixl1 A T 1: 180,522,311 (GRCm39) M190K probably benign Het
Mttp A G 3: 137,830,989 (GRCm39) S27P probably damaging Het
Myh6 T C 14: 55,190,943 (GRCm39) I911V probably damaging Het
Ncapd3 T A 9: 26,956,873 (GRCm39) I262N probably benign Het
Ncapg2 C A 12: 116,411,368 (GRCm39) S1051* probably null Het
Nckap1 G A 2: 80,401,568 (GRCm39) Q39* probably null Het
Nemp1 A G 10: 127,524,198 (GRCm39) D76G probably benign Het
Or12e10 A C 2: 87,640,202 (GRCm39) K13Q probably benign Het
Or2a20 G A 6: 43,194,258 (GRCm39) W137* probably null Het
Or2l13 A T 16: 19,306,113 (GRCm39) H175L possibly damaging Het
Or4a2 T A 2: 89,248,662 (GRCm39) I32F possibly damaging Het
Or8k36-ps1 T C 2: 86,437,909 (GRCm39) E2G probably benign Het
Osbpl5 C A 7: 143,249,308 (GRCm39) V578L probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Rabl3 A G 16: 37,377,190 (GRCm39) D49G possibly damaging Het
Rngtt A G 4: 33,368,618 (GRCm39) I384V possibly damaging Het
Robo1 T C 16: 72,105,257 (GRCm39) probably benign Het
Rtcb C A 10: 85,785,453 (GRCm39) R125L probably damaging Het
Rtn4rl2 C A 2: 84,702,954 (GRCm39) R206L probably damaging Het
Sbk2 A T 7: 4,960,333 (GRCm39) I279N probably benign Het
Scaf1 A G 7: 44,656,576 (GRCm39) S768P unknown Het
Slc6a9 A G 4: 117,721,198 (GRCm39) H316R probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tas2r136 G T 6: 132,755,106 (GRCm39) T7K probably damaging Het
Tbc1d9 T A 8: 83,968,339 (GRCm39) probably null Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem40 T C 6: 115,719,306 (GRCm39) D53G probably benign Het
Tram1 A T 1: 13,640,238 (GRCm39) V272D possibly damaging Het
Trpc4 G A 3: 54,102,302 (GRCm39) D67N probably damaging Het
Ttc6 A T 12: 57,701,559 (GRCm39) T591S probably benign Het
Ube2g1 A T 11: 72,570,199 (GRCm39) E144V probably benign Het
Unc80 A G 1: 66,544,179 (GRCm39) D434G probably damaging Het
Vmn1r168 C A 7: 23,240,237 (GRCm39) N31K probably damaging Het
Vmn1r79 A T 7: 11,910,450 (GRCm39) T111S probably damaging Het
Vmn2r118 C T 17: 55,915,415 (GRCm39) probably null Het
Vps35l C A 7: 118,352,107 (GRCm39) D195E probably benign Het
Yy1 A G 12: 108,772,417 (GRCm39) D231G possibly damaging Het
Zfp748 A G 13: 67,690,573 (GRCm39) V229A probably benign 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
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
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'- AACCTTCTGTTGACCCCATGG -3'
(R):5'- CTGGGGAATACATTTACACTGAAATGG -3'

Sequencing Primer
(F):5'- GCACATGCACATGGTTCC -3'
(R):5'- CTGAAATGGTCAAAACCTCTTTATCG -3'
Posted On 2022-11-14