Incidental Mutation 'R3803:A2ml1'
ID 274418
Institutional Source Beutler Lab
Gene Symbol A2ml1
Ensembl Gene ENSMUSG00000047228
Gene Name alpha-2-macroglobulin like 1
Synonyms BC048546, Ovos2
MMRRC Submission 040878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3803 (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 128522033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1263 (N1263S)
Ref Sequence ENSEMBL: ENSMUSP00000059426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060574]
AlphaFold Q3UU35
Predicted Effect probably benign
Transcript: ENSMUST00000060574
AA Change: N1263S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: N1263S

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (70/70)
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A C 3: 127,473,486 (GRCm39) V839G possibly damaging Het
Als2 A C 1: 59,206,358 (GRCm39) M1634R probably damaging Het
Aox1 T A 1: 58,329,058 (GRCm39) probably null Het
Aqp12 C T 1: 92,934,088 (GRCm39) probably benign Het
Arhgap24 T C 5: 103,040,308 (GRCm39) V508A probably damaging Het
Arhgap9 T A 10: 127,165,386 (GRCm39) D598E possibly damaging Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Clstn1 A G 4: 149,719,796 (GRCm39) H437R probably damaging Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Cspp1 C A 1: 10,196,598 (GRCm39) D157E probably damaging Het
Cyp4f16 T C 17: 32,763,858 (GRCm39) S217P possibly damaging Het
Ddx50 C A 10: 62,475,723 (GRCm39) V333F probably damaging Het
Dnai2 A G 11: 114,629,551 (GRCm39) S193G probably benign Het
Dync2h1 A T 9: 6,935,293 (GRCm39) H4236Q probably benign Het
Emc1 T C 4: 139,094,474 (GRCm39) Y676H possibly damaging Het
Erich6 T A 3: 58,528,753 (GRCm39) Y499F probably damaging Het
Fa2h A G 8: 112,082,030 (GRCm39) probably null Het
Fads2b A T 2: 85,338,682 (GRCm39) probably null Het
Gli1 T A 10: 127,173,934 (GRCm39) probably benign Het
Gm14403 A G 2: 177,200,569 (GRCm39) S172G probably benign Het
Grhl1 C T 12: 24,634,918 (GRCm39) T330M probably damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Helz2 A G 2: 180,881,789 (GRCm39) F335L probably damaging Het
Hr G A 14: 70,795,333 (GRCm39) A322T probably benign Het
Hsd17b8 A T 17: 34,245,441 (GRCm39) V231E probably damaging Het
Iapp A G 6: 142,249,151 (GRCm39) N68S probably benign Het
Kctd4 A T 14: 76,200,726 (GRCm39) L232F probably benign Het
Kdm5b A G 1: 134,543,679 (GRCm39) I783V probably benign Het
Larp4b T A 13: 9,208,590 (GRCm39) N414K probably benign Het
Ldb2 T C 5: 44,630,736 (GRCm39) E337G probably benign Het
Lgr4 A G 2: 109,838,542 (GRCm39) K498E probably benign Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Luc7l3 A T 11: 94,183,992 (GRCm39) probably benign Het
Ndrg2 C A 14: 52,148,132 (GRCm39) probably null Het
Ndufaf3 C A 9: 108,444,092 (GRCm39) R12L probably benign Het
Nol4 A T 18: 22,828,012 (GRCm39) L634I probably damaging Het
Npr3 C T 15: 11,895,876 (GRCm39) A257T probably damaging Het
Nrg3 G A 14: 38,098,391 (GRCm39) P496S probably damaging Het
Or4g17 A T 2: 111,209,638 (GRCm39) M98L possibly damaging Het
Or51a7 T C 7: 102,615,228 (GRCm39) probably null Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Pclo C T 5: 14,565,416 (GRCm39) Q61* probably null Het
Phf19 A G 2: 34,789,670 (GRCm39) L350P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Pkhd1l1 T C 15: 44,356,531 (GRCm39) L332P probably benign Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Rgl3 A G 9: 21,887,321 (GRCm39) I500T probably damaging Het
Rgs7 T A 1: 175,016,785 (GRCm39) I62F probably benign Het
Rttn A G 18: 88,995,831 (GRCm39) N205D probably damaging Het
Samd8 G A 14: 21,825,133 (GRCm39) V30M probably damaging Het
Scn7a G A 2: 66,510,590 (GRCm39) Q1271* probably null Het
Skor1 A G 9: 63,052,868 (GRCm39) V339A probably benign Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc5a6 T C 5: 31,200,295 (GRCm39) E130G probably damaging Het
Sorcs2 T A 5: 36,555,150 (GRCm39) K80N probably benign Het
Stc1 T C 14: 69,275,924 (GRCm39) I239T probably benign Het
Steap4 G T 5: 8,026,979 (GRCm39) R314L probably damaging Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Trav7d-4 A T 14: 53,007,575 (GRCm39) K23* probably null Het
Ttn A G 2: 76,641,075 (GRCm39) L13598P probably damaging Het
Vmn2r52 A G 7: 9,907,439 (GRCm39) S96P probably damaging Het
Wdr25 T C 12: 108,864,479 (GRCm39) V208A probably damaging Het
Wdr27 C T 17: 15,138,371 (GRCm39) V360M probably benign Het
Zfp54 T C 17: 21,653,814 (GRCm39) C103R possibly damaging Het
Zfp618 A G 4: 63,051,256 (GRCm39) E679G probably damaging Het
Zfp846 A G 9: 20,505,735 (GRCm39) I532V probably benign Het
Zkscan2 A T 7: 123,094,365 (GRCm39) probably benign 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
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
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'- AGGCTCAGTTCTCCTGTGAG -3'
(R):5'- TGCTAAAGACAATGAACTGACAGC -3'

Sequencing Primer
(F):5'- ACTTTTGAGTGCTGGACC -3'
(R):5'- ACAACTAAGCACTCTCTGGTGTTTG -3'
Posted On 2015-04-02