Incidental Mutation 'R7654:Adamtsl3'
ID 591068
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 045702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7654 (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 82223702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 1161 (E1161A)
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: E1161A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: E1161A

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: E235A

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: 98.9%
Validation Efficiency 100% (76/76)
Allele List at MGI

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

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,815,032 (GRCm39) V1140M possibly damaging Het
Adcy5 T C 16: 35,091,317 (GRCm39) S587P probably damaging Het
Aebp2 T A 6: 140,599,474 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankhd1 T C 18: 36,727,154 (GRCm39) V423A probably damaging Het
Arid1b T A 17: 5,341,360 (GRCm39) M888K possibly damaging Het
Asl C A 5: 130,047,231 (GRCm39) R122S probably damaging Het
B3gntl1 T A 11: 121,542,439 (GRCm39) D109V probably damaging Het
Cat G A 2: 103,290,709 (GRCm39) P402S probably damaging Het
Ccdc141 A T 2: 76,872,822 (GRCm39) Y787N probably benign Het
Ccdc78 T C 17: 26,009,085 (GRCm39) Y405H probably damaging Het
Ces1f T G 8: 93,998,562 (GRCm39) K145Q probably benign Het
Cfap65 A T 1: 74,972,303 (GRCm39) C19S probably benign Het
CN725425 T A 15: 91,123,638 (GRCm39) I118N probably benign Het
Ctc1 C T 11: 68,917,041 (GRCm39) P312S probably damaging Het
Ctsa C T 2: 164,680,853 (GRCm39) T442I probably benign Het
Cyp2b9 A G 7: 25,886,367 (GRCm39) T131A possibly damaging Het
D630045J12Rik A G 6: 38,154,636 (GRCm39) M1181T probably damaging Het
Dagla C G 19: 10,225,570 (GRCm39) G865R probably benign Het
Dst A C 1: 34,268,058 (GRCm39) K3153Q probably damaging Het
Dst A T 1: 34,268,059 (GRCm39) K3153M probably damaging Het
Dync2h1 A T 9: 7,122,664 (GRCm39) H2097Q probably damaging Het
Etnppl A G 3: 130,423,160 (GRCm39) I286M probably benign Het
Flvcr1 A T 1: 190,743,802 (GRCm39) M418K possibly damaging Het
Fuca1 T C 4: 135,657,232 (GRCm39) S215P probably damaging Het
Gabrg1 T C 5: 70,935,504 (GRCm39) K222E probably benign Het
Gdpd5 G A 7: 99,073,396 (GRCm39) R26H probably damaging Het
Gnptab T A 10: 88,281,681 (GRCm39) S1229R possibly damaging Het
Gpt A G 15: 76,582,530 (GRCm39) E256G probably benign Het
Hif3a C T 7: 16,783,021 (GRCm39) V261I probably damaging Het
Hmcn2 A G 2: 31,236,581 (GRCm39) T375A probably benign Het
Hspa4 C A 11: 53,190,951 (GRCm39) V15F probably damaging Het
Il18 A G 9: 50,490,701 (GRCm39) N112S possibly damaging Het
Inpp4a A G 1: 37,413,179 (GRCm39) probably null Het
Knop1 A G 7: 118,445,032 (GRCm39) S525P unknown Het
Leo1 A T 9: 75,362,961 (GRCm39) Y461F possibly damaging Het
Med1 C T 11: 98,060,189 (GRCm39) V247I possibly damaging Het
Mpnd T G 17: 56,317,489 (GRCm39) H159Q probably benign Het
Msl1 A G 11: 98,686,937 (GRCm39) E94G possibly damaging Het
Mthfd2l A T 5: 91,094,665 (GRCm39) I45F probably damaging Het
Neurl1b T A 17: 26,657,671 (GRCm39) L203Q probably benign Het
Or5m12 G T 2: 85,734,663 (GRCm39) T245N possibly damaging Het
Otoa T G 7: 120,746,923 (GRCm39) L896R probably damaging Het
Pcdhac2 T A 18: 37,278,076 (GRCm39) V352E probably damaging Het
Pcsk5 T A 19: 17,434,168 (GRCm39) K1400I possibly damaging Het
Pcx T A 19: 4,565,697 (GRCm39) probably null Het
Pds5a A G 5: 65,776,324 (GRCm39) V90A probably damaging Het
Pgam2 T C 11: 5,753,351 (GRCm39) K113R probably null Het
Phkb G T 8: 86,667,516 (GRCm39) R266L possibly damaging Het
Phtf2 A G 5: 20,987,459 (GRCm39) S346P probably damaging Het
Pkd1l3 G A 8: 110,365,049 (GRCm39) A1144T probably damaging Het
Plbd1 T C 6: 136,628,864 (GRCm39) Y68C possibly damaging Het
Polk T C 13: 96,633,321 (GRCm39) T241A probably benign Het
Ppfibp2 T A 7: 107,337,818 (GRCm39) D635E probably damaging Het
Ppip5k1 G A 2: 121,179,040 (GRCm39) R229W probably damaging Het
Ptpn20 A G 14: 33,360,281 (GRCm39) D386G probably benign Het
Rab22a T C 2: 173,529,968 (GRCm39) Y49H probably benign Het
Rab3gap1 A G 1: 127,837,652 (GRCm39) D238G probably damaging Het
Rbp3 T C 14: 33,677,797 (GRCm39) S582P probably benign Het
Rcbtb2 T C 14: 73,411,941 (GRCm39) V410A probably benign Het
Sh3rf2 A G 18: 42,237,173 (GRCm39) E232G probably damaging Het
Shroom1 T A 11: 53,357,735 (GRCm39) V762E probably benign Het
Speer4f2 A T 5: 17,579,413 (GRCm39) M71L Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Tgfb1 A T 7: 25,387,120 (GRCm39) probably benign Het
Tnik C T 3: 28,658,334 (GRCm39) R540C probably damaging Het
Tti1 A T 2: 157,850,474 (GRCm39) I255N probably benign Het
Ttn T C 2: 76,727,490 (GRCm39) S5739G unknown Het
Umad1 G A 6: 8,426,995 (GRCm39) V57M probably damaging Het
Usp30 T A 5: 114,240,506 (GRCm39) I49N probably damaging Het
Usp7 G A 16: 8,519,907 (GRCm39) T398I probably benign Het
Vmn2r65 A G 7: 84,590,261 (GRCm39) Y552H probably damaging Het
Zfp616 A G 11: 73,974,013 (GRCm39) N185S possibly damaging Het
Zfp804b T A 5: 6,819,458 (GRCm39) T1202S probably damaging Het
Zfyve28 A T 5: 34,400,539 (GRCm39) V53D 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
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
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'- GCATACAGCATGGACACAGC -3'
(R):5'- CTTGCTGGGAGTAATGAGGC -3'

Sequencing Primer
(F):5'- TGGACACAGCCCAATTTGATG -3'
(R):5'- GGCTGCAAAGTATATTGATGATCTCC -3'
Posted On 2019-11-12