Incidental Mutation 'R9169:Adamtsl3'
ID 696263
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 # R9169 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 82223188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 990 (I990L)
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: I990L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: I990L

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: I64L

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (92/92)
Allele List at MGI

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

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A T 7: 41,261,109 (GRCm39) probably benign Het
9330182O14Rik A T 15: 40,005,632 (GRCm39) K17* probably null Het
Add1 T A 5: 34,788,122 (GRCm39) S724T possibly damaging Het
Afdn A G 17: 14,072,627 (GRCm39) N865S probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ap1m2 T A 9: 21,223,523 (GRCm39) I8F probably benign Het
Atp8a1 T C 5: 67,824,944 (GRCm39) T811A Het
Axin2 A G 11: 108,822,378 (GRCm39) D310G probably damaging Het
Bin1 T G 18: 32,562,251 (GRCm39) F379L possibly damaging Het
Bin2 C A 15: 100,554,631 (GRCm39) S91I possibly damaging Het
Birc5 A G 11: 117,743,599 (GRCm39) N111S probably benign Het
Blk T A 14: 63,620,130 (GRCm39) N137Y probably damaging Het
Cacna1d G A 14: 29,796,873 (GRCm39) A1534V probably damaging Het
Cacna2d1 T C 5: 16,451,757 (GRCm39) V207A probably damaging Het
Ccr3 A G 9: 123,828,949 (GRCm39) I95V probably benign Het
Celsr2 T C 3: 108,309,862 (GRCm39) D1579G probably benign Het
Cfap36 C A 11: 29,196,541 (GRCm39) K19N probably benign Het
Cfap52 C T 11: 67,844,860 (GRCm39) V70M possibly damaging Het
Chid1 A T 7: 141,093,722 (GRCm39) I298N probably damaging Het
Clstn1 G T 4: 149,731,322 (GRCm39) R888L possibly damaging Het
Col6a5 T A 9: 105,822,596 (GRCm39) T254S unknown Het
Coro6 C T 11: 77,359,329 (GRCm39) P301S probably damaging Het
Cstdc2 A G 2: 148,692,589 (GRCm39) probably null Het
Dchs1 T C 7: 105,422,114 (GRCm39) D102G probably damaging Het
Dnah14 T C 1: 181,433,381 (GRCm39) F353L probably benign Het
Dnajc10 A T 2: 80,163,315 (GRCm39) I344L probably benign Het
Dst T C 1: 34,303,652 (GRCm39) V4026A probably damaging Het
Exo1 A G 1: 175,715,203 (GRCm39) E114G possibly damaging Het
Fabp7 A G 10: 57,662,439 (GRCm39) I109V probably benign Het
Fars2 T C 13: 36,416,109 (GRCm39) F206S probably damaging Het
Gbp8 C T 5: 105,179,155 (GRCm39) A115T possibly damaging Het
Gm17067 T C 7: 42,357,627 (GRCm39) T292A probably benign Het
Gp2 T C 7: 119,041,929 (GRCm39) D532G probably benign Het
Gtf2i C A 5: 134,271,534 (GRCm39) A917S probably damaging Het
Guca1b A G 17: 47,702,827 (GRCm39) E169G possibly damaging Het
Hdac1 A T 4: 129,428,499 (GRCm39) Y24N probably damaging Het
Hepacam T C 9: 37,293,693 (GRCm39) F251L probably damaging Het
Hmcn1 G T 1: 150,506,092 (GRCm39) N3811K probably damaging Het
Htra4 A T 8: 25,520,133 (GRCm39) M391K probably damaging Het
Ino80d T C 1: 63,097,930 (GRCm39) T760A probably benign Het
Ints1 T G 5: 139,748,586 (GRCm39) T1074P probably benign Het
Itga6 A T 2: 71,647,015 (GRCm39) Q75L possibly damaging Het
Mapk14 A C 17: 28,960,814 (GRCm39) N272T probably benign Het
Meikin A T 11: 54,285,517 (GRCm39) T185S possibly damaging Het
Moxd2 C T 6: 40,860,490 (GRCm39) G318D possibly damaging Het
Mtmr3 G A 11: 4,437,739 (GRCm39) T905I probably benign Het
Muc16 A G 9: 18,567,824 (GRCm39) I1565T unknown Het
Myh14 A G 7: 44,271,281 (GRCm39) S1500P possibly damaging Het
Nfkb1 T C 3: 135,310,874 (GRCm39) E475G probably benign Het
Ngef C A 1: 87,473,581 (GRCm39) R67L probably benign Het
Olr1 T C 6: 129,470,528 (GRCm39) E213G probably damaging Het
Or13c3 T A 4: 52,856,052 (GRCm39) I154F probably damaging Het
Or5b124 A G 19: 13,610,903 (GRCm39) I143V probably benign Het
Or8g21 A G 9: 38,906,573 (GRCm39) S53P probably benign Het
Or9r3 A C 10: 129,947,723 (GRCm39) I312R probably benign Het
Pcdhga3 C T 18: 37,809,088 (GRCm39) L514F probably damaging Het
Pcnt A G 10: 76,221,572 (GRCm39) M2018T possibly damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pik3ca T C 3: 32,503,755 (GRCm39) probably null Het
Psapl1 A G 5: 36,362,880 (GRCm39) S491G possibly damaging Het
Psmf1 A T 2: 151,577,457 (GRCm39) D73E probably benign Het
Ptprcap A G 19: 4,206,358 (GRCm39) D147G probably benign Het
Ramacl T C 13: 67,056,063 (GRCm39) F19L probably damaging Het
Rdh8 T A 9: 20,736,935 (GRCm39) V309E possibly damaging Het
Rhobtb3 T A 13: 76,041,121 (GRCm39) T396S probably benign Het
Rpa1 A T 11: 75,200,999 (GRCm39) L475* probably null Het
Rtkn T A 6: 83,129,190 (GRCm39) S562T probably damaging Het
Saxo5 A T 8: 3,525,967 (GRCm39) Y40F possibly damaging Het
Scamp1 C T 13: 94,389,533 (GRCm39) D35N probably benign Het
Scarb1 C T 5: 125,371,146 (GRCm39) A309T probably damaging Het
Scube1 G A 15: 83,543,298 (GRCm39) T180M possibly damaging Het
Sez6 T G 11: 77,868,473 (GRCm39) F945V probably damaging Het
Sf3a1 C T 11: 4,116,681 (GRCm39) T124M probably benign Het
Smchd1 T C 17: 71,722,659 (GRCm39) K759E probably damaging Het
Sort1 C A 3: 108,247,994 (GRCm39) C446* probably null Het
Sun1 T A 5: 139,219,273 (GRCm39) S360T probably benign Het
Supv3l1 A G 10: 62,268,238 (GRCm39) F536L probably damaging Het
Taar6 A C 10: 23,861,273 (GRCm39) V91G probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Thoc2l T A 5: 104,666,348 (GRCm39) L290H probably damaging Het
Tmc2 T A 2: 130,083,516 (GRCm39) I491N probably damaging Het
Trmt112 T C 19: 6,888,187 (GRCm39) I113T probably damaging Het
Ttc14 C T 3: 33,857,071 (GRCm39) Q183* probably null Het
Txndc16 T A 14: 45,373,385 (GRCm39) D748V probably damaging Het
Xkr6 A G 14: 63,844,067 (GRCm39) D30G possibly damaging Het
Zc3h14 C T 12: 98,745,505 (GRCm39) S498L probably damaging Het
Zc3h7b A C 15: 81,661,184 (GRCm39) D341A probably benign Het
Zfp108 T A 7: 23,960,923 (GRCm39) C505S probably damaging Het
Zfp354c A C 11: 50,706,088 (GRCm39) L329R probably damaging Het
Zfyve16 T A 13: 92,657,871 (GRCm39) D680V probably damaging Het
Znfx1 A G 2: 166,897,185 (GRCm39) F580L 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
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'- CAGTAGAGCCTACTTGCTGC -3'
(R):5'- AAGGCTGCTTATTCATTTCACCAC -3'

Sequencing Primer
(F):5'- AGTAGAGCCTACTTGCTGCTCAATAC -3'
(R):5'- TTCATTTCACCACCGTGCAGATAAAG -3'
Posted On 2022-02-07