Incidental Mutation 'R6331:A2ml1'
ID 531253
Institutional Source Beutler Lab
Gene Symbol A2ml1
Ensembl Gene ENSMUSG00000047228
Gene Name alpha-2-macroglobulin like 1
Synonyms BC048546, Ovos2
MMRRC Submission 044485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6331 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 128516784-128558571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128529199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 981 (D981G)
Ref Sequence ENSEMBL: ENSMUSP00000059426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060574]
AlphaFold Q3UU35
Predicted Effect probably damaging
Transcript: ENSMUST00000060574
AA Change: D981G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: D981G

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
Pfam:A2M_N 120 213 6.3e-17 PFAM
A2M_N_2 448 594 2.95e-37 SMART
A2M 736 826 2.11e-33 SMART
Pfam:Thiol-ester_cl 959 988 3.1e-17 PFAM
Pfam:A2M_comp 1008 1255 2.3e-71 PFAM
A2M_recep 1361 1447 1.22e-29 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (66/66)
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C A 16: 14,282,920 (GRCm39) A1132D probably damaging Het
Adamts12 A G 15: 11,241,519 (GRCm39) T364A probably damaging Het
Ahnak A T 19: 8,983,989 (GRCm39) M1758L probably benign Het
Ak9 T C 10: 41,258,825 (GRCm39) V774A probably damaging Het
Ash1l A G 3: 88,915,172 (GRCm39) E1934G probably benign Het
Atp2b2 C T 6: 113,774,092 (GRCm39) A341T probably benign Het
Bach2 G T 4: 32,238,816 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,175 (GRCm39) I1150T probably benign Het
Brd10 C T 19: 29,695,147 (GRCm39) V1449I probably benign Het
Ccdc102a T C 8: 95,638,144 (GRCm39) T241A probably benign Het
Chd5 G T 4: 152,466,865 (GRCm39) R1627S probably benign Het
Clint1 T C 11: 45,785,908 (GRCm39) S322P probably benign Het
Dapk1 T A 13: 60,877,256 (GRCm39) C498* probably null Het
Diaph3 T G 14: 87,103,976 (GRCm39) S803R probably damaging Het
Dmp1 T C 5: 104,354,991 (GRCm39) L10P probably damaging Het
Gcc2 T C 10: 58,107,287 (GRCm39) V741A probably benign Het
Gldn A G 9: 54,194,162 (GRCm39) M119V probably benign Het
Gucy1b1 A G 3: 81,941,718 (GRCm39) S574P possibly damaging Het
Hapln4 T A 8: 70,537,073 (GRCm39) probably benign Het
Hars1 A G 18: 36,904,385 (GRCm39) V209A probably benign Het
Htt T A 5: 35,053,231 (GRCm39) F2521L possibly damaging Het
Kif14 A G 1: 136,443,724 (GRCm39) D1299G probably null Het
Krt25 T A 11: 99,208,253 (GRCm39) E325V probably damaging Het
Lcmt1 T C 7: 122,977,405 (GRCm39) probably benign Het
Lrp1b A T 2: 40,693,221 (GRCm39) N3266K probably damaging Het
Mctp1 T A 13: 77,168,982 (GRCm39) probably null Het
Mtarc2 A G 1: 184,551,525 (GRCm39) S304P probably damaging Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Myom3 A G 4: 135,503,688 (GRCm39) N379S possibly damaging Het
Nbea A T 3: 55,908,037 (GRCm39) D1358E possibly damaging Het
Nod1 T C 6: 54,901,968 (GRCm39) E939G probably damaging Het
Obox1 A G 7: 15,289,294 (GRCm39) R70G probably benign Het
Or13c25 A G 4: 52,911,399 (GRCm39) Y132H probably damaging Het
Or13p3 A G 4: 118,567,144 (GRCm39) E180G probably benign Het
Or4a2 C T 2: 89,248,695 (GRCm39) G21S probably benign Het
Or5m12 T C 2: 85,734,560 (GRCm39) I279M probably benign Het
Otof T C 5: 30,529,279 (GRCm39) D1745G possibly damaging Het
Pklr A G 3: 89,044,662 (GRCm39) I47V probably damaging Het
Pms2 T A 5: 143,851,451 (GRCm39) S123T possibly damaging Het
Pnpla2 T C 7: 141,039,198 (GRCm39) S337P probably damaging Het
Ptgfrn A C 3: 100,952,936 (GRCm39) V766G possibly damaging Het
Ptpn11 T A 5: 121,282,716 (GRCm39) H419L probably damaging Het
Rims3 T A 4: 120,740,350 (GRCm39) V99E probably damaging Het
Rmc1 G A 18: 12,313,571 (GRCm39) R228H probably damaging Het
Samd9l A G 6: 3,376,361 (GRCm39) V300A probably damaging Het
Sdad1 T C 5: 92,451,789 (GRCm39) D144G probably damaging Het
Siglecg T C 7: 43,058,178 (GRCm39) Y22H possibly damaging Het
Slc39a1 A G 3: 90,159,588 (GRCm39) K305R possibly damaging Het
Slc5a4a A G 10: 76,014,034 (GRCm39) R414G probably damaging Het
Smg1 T C 7: 117,753,500 (GRCm39) probably benign Het
Tbc1d9b C T 11: 50,022,324 (GRCm39) A20V possibly damaging Het
Tgfb3 G T 12: 86,110,638 (GRCm39) D237E probably benign Het
Tle6 A G 10: 81,431,073 (GRCm39) S234P probably benign Het
Tnrc6b A G 15: 80,763,815 (GRCm39) N439S probably benign Het
Trim33 T C 3: 103,248,925 (GRCm39) S783P probably benign Het
Ttn A T 2: 76,632,698 (GRCm39) Y12373N probably damaging Het
Tube1 G A 10: 39,010,097 (GRCm39) V7I probably benign Het
Tufm T C 7: 126,088,410 (GRCm39) V265A probably benign Het
Usp32 T C 11: 84,877,402 (GRCm39) H1550R possibly damaging Het
Usp33 A T 3: 152,081,887 (GRCm39) M546L probably damaging Het
Uspl1 C A 5: 149,151,097 (GRCm39) Q752K probably benign Het
Vmn1r20 A G 6: 57,408,655 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,521 (GRCm39) F245S probably damaging Het
Vmn2r3 A G 3: 64,186,182 (GRCm39) S168P probably damaging Het
Wdr24 T G 17: 26,044,650 (GRCm39) D168E possibly damaging Het
Zfp646 C T 7: 127,482,853 (GRCm39) P1677S probably damaging Het
Other mutations in A2ml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:A2ml1 APN 6 128,555,119 (GRCm39) missense possibly damaging 0.78
IGL00596:A2ml1 APN 6 128,547,030 (GRCm39) missense probably damaging 0.99
IGL00912:A2ml1 APN 6 128,529,270 (GRCm39) missense probably benign 0.04
IGL01320:A2ml1 APN 6 128,552,551 (GRCm39) missense probably benign 0.00
IGL01470:A2ml1 APN 6 128,557,375 (GRCm39) missense probably damaging 0.96
IGL01576:A2ml1 APN 6 128,531,293 (GRCm39) splice site probably benign
IGL01761:A2ml1 APN 6 128,523,300 (GRCm39) missense possibly damaging 0.61
IGL01792:A2ml1 APN 6 128,537,642 (GRCm39) missense probably benign 0.04
IGL01843:A2ml1 APN 6 128,530,301 (GRCm39) splice site probably benign
IGL01946:A2ml1 APN 6 128,547,442 (GRCm39) missense possibly damaging 0.81
IGL02016:A2ml1 APN 6 128,535,298 (GRCm39) missense probably damaging 1.00
IGL02170:A2ml1 APN 6 128,524,173 (GRCm39) missense possibly damaging 0.58
IGL02269:A2ml1 APN 6 128,530,301 (GRCm39) splice site probably benign
IGL02589:A2ml1 APN 6 128,558,463 (GRCm39) missense probably benign 0.00
IGL02959:A2ml1 APN 6 128,544,023 (GRCm39) missense probably benign 0.04
IGL02970:A2ml1 APN 6 128,546,942 (GRCm39) missense probably damaging 1.00
IGL03206:A2ml1 APN 6 128,530,239 (GRCm39) missense possibly damaging 0.50
IGL03298:A2ml1 APN 6 128,520,923 (GRCm39) missense probably benign 0.00
1mM(1):A2ml1 UTSW 6 128,557,923 (GRCm39) missense probably benign 0.02
R0055:A2ml1 UTSW 6 128,547,057 (GRCm39) splice site probably benign
R0055:A2ml1 UTSW 6 128,547,057 (GRCm39) splice site probably benign
R0069:A2ml1 UTSW 6 128,538,525 (GRCm39) missense probably damaging 1.00
R0069:A2ml1 UTSW 6 128,538,525 (GRCm39) missense probably damaging 1.00
R0128:A2ml1 UTSW 6 128,552,602 (GRCm39) splice site probably benign
R0299:A2ml1 UTSW 6 128,530,195 (GRCm39) splice site probably benign
R0523:A2ml1 UTSW 6 128,535,289 (GRCm39) missense possibly damaging 0.92
R0565:A2ml1 UTSW 6 128,545,706 (GRCm39) nonsense probably null
R0599:A2ml1 UTSW 6 128,529,208 (GRCm39) missense probably damaging 1.00
R0626:A2ml1 UTSW 6 128,527,736 (GRCm39) missense probably damaging 0.99
R0732:A2ml1 UTSW 6 128,523,411 (GRCm39) missense probably damaging 1.00
R0880:A2ml1 UTSW 6 128,537,609 (GRCm39) missense possibly damaging 0.49
R1070:A2ml1 UTSW 6 128,520,263 (GRCm39) missense probably damaging 1.00
R1166:A2ml1 UTSW 6 128,547,880 (GRCm39) missense probably benign 0.00
R1278:A2ml1 UTSW 6 128,535,470 (GRCm39) missense probably damaging 1.00
R1421:A2ml1 UTSW 6 128,520,923 (GRCm39) missense probably benign 0.00
R1536:A2ml1 UTSW 6 128,524,196 (GRCm39) nonsense probably null
R1786:A2ml1 UTSW 6 128,553,223 (GRCm39) missense probably damaging 1.00
R1808:A2ml1 UTSW 6 128,520,262 (GRCm39) missense probably damaging 1.00
R1813:A2ml1 UTSW 6 128,543,236 (GRCm39) missense probably benign 0.34
R1863:A2ml1 UTSW 6 128,527,746 (GRCm39) missense probably damaging 0.99
R2007:A2ml1 UTSW 6 128,519,855 (GRCm39) missense probably benign 0.13
R2062:A2ml1 UTSW 6 128,529,271 (GRCm39) missense probably benign 0.08
R2127:A2ml1 UTSW 6 128,535,400 (GRCm39) missense probably damaging 1.00
R2130:A2ml1 UTSW 6 128,553,223 (GRCm39) missense probably damaging 1.00
R2131:A2ml1 UTSW 6 128,553,223 (GRCm39) missense probably damaging 1.00
R2201:A2ml1 UTSW 6 128,524,268 (GRCm39) missense probably null 0.34
R2319:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2321:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2322:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2369:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2370:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2371:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2372:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2375:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2893:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R2894:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R3438:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R3615:A2ml1 UTSW 6 128,535,257 (GRCm39) missense probably benign 0.07
R3616:A2ml1 UTSW 6 128,535,257 (GRCm39) missense probably benign 0.07
R3773:A2ml1 UTSW 6 128,532,046 (GRCm39) missense probably benign 0.02
R3785:A2ml1 UTSW 6 128,521,887 (GRCm39) critical splice donor site probably null
R3803:A2ml1 UTSW 6 128,522,033 (GRCm39) missense probably benign 0.17
R3824:A2ml1 UTSW 6 128,545,726 (GRCm39) missense probably damaging 0.99
R3878:A2ml1 UTSW 6 128,531,324 (GRCm39) missense probably benign 0.05
R4176:A2ml1 UTSW 6 128,522,000 (GRCm39) missense possibly damaging 0.68
R4229:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R4230:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R4348:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R4351:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R4352:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R4353:A2ml1 UTSW 6 128,557,349 (GRCm39) missense probably benign 0.01
R4427:A2ml1 UTSW 6 128,522,009 (GRCm39) missense probably benign 0.00
R4971:A2ml1 UTSW 6 128,524,190 (GRCm39) missense probably damaging 0.98
R5014:A2ml1 UTSW 6 128,520,896 (GRCm39) missense probably benign 0.00
R5369:A2ml1 UTSW 6 128,545,796 (GRCm39) missense probably damaging 0.97
R5532:A2ml1 UTSW 6 128,530,293 (GRCm39) critical splice acceptor site probably null
R5860:A2ml1 UTSW 6 128,518,024 (GRCm39) missense probably benign 0.15
R5872:A2ml1 UTSW 6 128,538,489 (GRCm39) missense probably damaging 1.00
R5926:A2ml1 UTSW 6 128,537,608 (GRCm39) missense probably benign
R5977:A2ml1 UTSW 6 128,558,085 (GRCm39) missense probably damaging 1.00
R5980:A2ml1 UTSW 6 128,544,018 (GRCm39) missense possibly damaging 0.82
R6014:A2ml1 UTSW 6 128,548,948 (GRCm39) missense probably damaging 1.00
R6032:A2ml1 UTSW 6 128,526,799 (GRCm39) nonsense probably null
R6032:A2ml1 UTSW 6 128,526,799 (GRCm39) nonsense probably null
R6061:A2ml1 UTSW 6 128,545,675 (GRCm39) missense probably damaging 1.00
R6327:A2ml1 UTSW 6 128,535,655 (GRCm39) splice site probably null
R6465:A2ml1 UTSW 6 128,518,041 (GRCm39) missense probably damaging 1.00
R6640:A2ml1 UTSW 6 128,530,248 (GRCm39) missense probably benign 0.41
R6792:A2ml1 UTSW 6 128,523,292 (GRCm39) nonsense probably null
R6793:A2ml1 UTSW 6 128,523,292 (GRCm39) nonsense probably null
R7207:A2ml1 UTSW 6 128,527,734 (GRCm39) missense probably benign 0.04
R7378:A2ml1 UTSW 6 128,523,210 (GRCm39) critical splice donor site probably null
R7556:A2ml1 UTSW 6 128,546,927 (GRCm39) missense probably damaging 1.00
R8010:A2ml1 UTSW 6 128,557,303 (GRCm39) missense probably benign 0.08
R8017:A2ml1 UTSW 6 128,558,410 (GRCm39) critical splice donor site probably null
R8019:A2ml1 UTSW 6 128,558,410 (GRCm39) critical splice donor site probably null
R8035:A2ml1 UTSW 6 128,530,243 (GRCm39) missense probably damaging 0.99
R8094:A2ml1 UTSW 6 128,549,045 (GRCm39) missense probably damaging 1.00
R8144:A2ml1 UTSW 6 128,546,962 (GRCm39) missense possibly damaging 0.84
R8365:A2ml1 UTSW 6 128,557,918 (GRCm39) nonsense probably null
R8382:A2ml1 UTSW 6 128,537,645 (GRCm39) missense probably benign 0.01
R8388:A2ml1 UTSW 6 128,548,937 (GRCm39) missense probably benign 0.03
R8717:A2ml1 UTSW 6 128,543,958 (GRCm39) missense probably benign 0.00
R8947:A2ml1 UTSW 6 128,529,219 (GRCm39) missense probably damaging 1.00
R8970:A2ml1 UTSW 6 128,545,726 (GRCm39) missense probably damaging 0.99
R9025:A2ml1 UTSW 6 128,534,545 (GRCm39) missense possibly damaging 0.49
R9083:A2ml1 UTSW 6 128,534,524 (GRCm39) missense possibly damaging 0.90
R9129:A2ml1 UTSW 6 128,523,223 (GRCm39) missense probably damaging 1.00
R9145:A2ml1 UTSW 6 128,536,032 (GRCm39) missense probably benign
R9165:A2ml1 UTSW 6 128,537,632 (GRCm39) missense probably benign
R9285:A2ml1 UTSW 6 128,526,756 (GRCm39) missense probably benign
R9408:A2ml1 UTSW 6 128,522,030 (GRCm39) missense probably damaging 0.98
R9486:A2ml1 UTSW 6 128,546,942 (GRCm39) missense probably damaging 0.99
R9781:A2ml1 UTSW 6 128,519,860 (GRCm39) missense probably benign 0.01
RF014:A2ml1 UTSW 6 128,547,031 (GRCm39) missense probably damaging 0.96
X0063:A2ml1 UTSW 6 128,548,975 (GRCm39) missense probably benign
Z1176:A2ml1 UTSW 6 128,548,940 (GRCm39) missense probably benign 0.09
Z1177:A2ml1 UTSW 6 128,552,570 (GRCm39) missense possibly damaging 0.80
Z1177:A2ml1 UTSW 6 128,538,579 (GRCm39) nonsense probably null
Z1177:A2ml1 UTSW 6 128,522,039 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAGCTAGGATTCAGAGGACC -3'
(R):5'- AAATGATTTCCTATTCCCACCATGC -3'

Sequencing Primer
(F):5'- CTAGGATTCAGAGGACCTAAATGTC -3'
(R):5'- ACCATGCCCTGCGGTTATTAG -3'
Posted On 2018-08-17