Incidental Mutation 'R5014:A2ml1'
ID 439467
Institutional Source Beutler Lab
Gene Symbol A2ml1
Ensembl Gene ENSMUSG00000047228
Gene Name alpha-2-macroglobulin like 1
Synonyms BC048546, Ovos2
MMRRC Submission 042605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5014 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128516784-128558571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128520896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1353 (T1353A)
Ref Sequence ENSEMBL: ENSMUSP00000059426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060574]
AlphaFold Q3UU35
Predicted Effect probably benign
Transcript: ENSMUST00000060574
AA Change: T1353A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: T1353A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205167
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.7%
Validation Efficiency 97% (83/86)
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,840,957 (GRCm39) I1072N probably damaging Het
Atp1a2 T C 1: 172,112,438 (GRCm39) T517A probably benign Het
Blk T G 14: 63,617,236 (GRCm39) N257T probably benign Het
Brd4 A T 17: 32,417,372 (GRCm39) probably benign Het
Calr4 C T 4: 109,092,994 (GRCm39) Q25* probably null Het
Cbl T C 9: 44,065,696 (GRCm39) probably null Het
Ccdc30 T G 4: 119,250,824 (GRCm39) H6P possibly damaging Het
Cd101 A C 3: 100,911,139 (GRCm39) Y840D probably damaging Het
Cd68 T A 11: 69,556,165 (GRCm39) N178Y probably damaging Het
Cep350 T C 1: 155,803,952 (GRCm39) T1044A probably benign Het
Cfap46 A G 7: 139,207,291 (GRCm39) V1876A probably benign Het
Clec2g T A 6: 128,925,765 (GRCm39) M58K probably benign Het
Clip1 T C 5: 123,755,793 (GRCm39) E860G probably damaging Het
Col18a1 C T 10: 76,906,794 (GRCm39) probably null Het
Cul7 A G 17: 46,966,868 (GRCm39) *650W probably null Het
Dkk4 C T 8: 23,115,315 (GRCm39) A55V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnai7 T C 6: 145,128,992 (GRCm39) E407G probably damaging Het
Dnase1 C A 16: 3,856,880 (GRCm39) Y170* probably null Het
Dnmt1 A C 9: 20,823,550 (GRCm39) I1019S probably benign Het
Epha6 T A 16: 59,486,942 (GRCm39) H1035L probably benign Het
Fam124b T C 1: 80,177,776 (GRCm39) T408A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Galnt7 T C 8: 57,998,414 (GRCm39) E305G probably damaging Het
Garin1b C T 6: 29,326,723 (GRCm39) probably benign Het
Git1 T A 11: 77,389,821 (GRCm39) V28E probably damaging Het
Gm10010 C T 6: 128,177,556 (GRCm39) noncoding transcript Het
Gm4956 T C 1: 21,363,821 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,193,506 (GRCm39) V349G probably benign Het
Gtsf1l C T 2: 162,929,112 (GRCm39) V124I probably damaging Het
Gucy1b1 C G 3: 81,953,974 (GRCm39) G114A probably benign Het
Hk2 T C 6: 82,720,936 (GRCm39) Q166R possibly damaging Het
Hook2 A G 8: 85,718,006 (GRCm39) I44M probably damaging Het
Ildr1 T A 16: 36,541,921 (GRCm39) M222K probably damaging Het
Ints6 A T 14: 62,997,640 (GRCm39) F55Y probably benign Het
Kcnh1 A G 1: 191,959,388 (GRCm39) N314S probably damaging Het
Lpin3 T C 2: 160,746,748 (GRCm39) F748L probably damaging Het
Lrsam1 T C 2: 32,826,407 (GRCm39) probably benign Het
Msh2 A T 17: 88,025,004 (GRCm39) K627N possibly damaging Het
Myrip A G 9: 120,251,534 (GRCm39) Q219R probably damaging Het
Ndufb3 T A 1: 58,630,401 (GRCm39) W51R probably damaging Het
Nfasc A T 1: 132,512,185 (GRCm39) probably benign Het
Or2c1 T A 16: 3,656,912 (GRCm39) I25N probably benign Het
Or2h2 T A 17: 37,396,446 (GRCm39) I204F probably benign Het
Or8s8 T C 15: 98,354,857 (GRCm39) V222A possibly damaging Het
P3h3 T A 6: 124,832,199 (GRCm39) E229V probably damaging Het
Ppfia2 T A 10: 106,701,224 (GRCm39) L837* probably null Het
Ppp2r1a G A 17: 21,179,101 (GRCm39) probably null Het
Rabgap1 T A 2: 37,377,152 (GRCm39) V328E probably damaging Het
Ralgapb G A 2: 158,337,455 (GRCm39) R1138Q probably damaging Het
Ranbp2 A T 10: 58,299,942 (GRCm39) Q498L probably benign Het
Rbx1 T A 15: 81,355,161 (GRCm39) C56S probably damaging Het
Rcan2 T C 17: 44,328,704 (GRCm39) F45S probably damaging Het
Rgs20 T C 1: 4,980,770 (GRCm39) Y185C probably damaging Het
Rorc T G 3: 94,298,460 (GRCm39) L315R probably damaging Het
Skic2 A G 17: 35,066,401 (GRCm39) V194A probably benign Het
Slc13a2 T C 11: 78,290,987 (GRCm39) K406E possibly damaging Het
Slc35g3 T A 11: 69,651,866 (GRCm39) K62* probably null Het
Sox30 T C 11: 45,882,736 (GRCm39) S589P probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Tecta C T 9: 42,284,538 (GRCm39) C849Y probably damaging Het
Thbs1 T A 2: 117,950,518 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tut4 T C 4: 108,384,043 (GRCm39) probably benign Het
Tyk2 C T 9: 21,027,126 (GRCm39) probably null Het
Tyw5 C A 1: 57,446,004 (GRCm39) probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Wdfy4 A T 14: 32,822,897 (GRCm39) C1401S probably benign Het
Wiz T C 17: 32,578,340 (GRCm39) N391D probably damaging Het
Ylpm1 G A 12: 85,061,523 (GRCm39) E475K unknown Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp184 A G 13: 22,142,594 (GRCm39) D100G probably benign Het
Zfp990 T A 4: 145,264,669 (GRCm39) C556S possibly damaging Het
Zkscan16 C T 4: 58,951,892 (GRCm39) P189L 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
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
R6331:A2ml1 UTSW 6 128,529,199 (GRCm39) missense probably damaging 0.96
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'- GTGCGTAGATATTGCAGAAGGTC -3'
(R):5'- CGTTGATCCTGGTTCCCTGATG -3'

Sequencing Primer
(F):5'- GCAGAAGGTCTTTCTAATAAGCCAG -3'
(R):5'- GATCCTGGTTCCCTGATGATAACAC -3'
Posted On 2016-10-31