Incidental Mutation 'R4176:A2ml1'
ID 319507
Institutional Source Beutler Lab
Gene Symbol A2ml1
Ensembl Gene ENSMUSG00000047228
Gene Name alpha-2-macroglobulin like 1
Synonyms BC048546, Ovos2
MMRRC Submission 041014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4176 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128516784-128558571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128522000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1274 (E1274G)
Ref Sequence ENSEMBL: ENSMUSP00000059426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060574]
AlphaFold Q3UU35
Predicted Effect possibly damaging
Transcript: ENSMUST00000060574
AA Change: E1274G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: E1274G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,472,563 (GRCm39) E424G probably damaging Het
Ankrd10 A G 8: 11,662,644 (GRCm39) I363T probably benign Het
Ankrd12 A T 17: 66,334,361 (GRCm39) N204K probably damaging Het
Brca2 C A 5: 150,463,098 (GRCm39) S954* probably null Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Dagla G T 19: 10,240,461 (GRCm39) D256E probably damaging Het
Dsg2 T A 18: 20,713,720 (GRCm39) F230L probably benign Het
Elp5 T C 11: 69,861,388 (GRCm39) Q197R probably null Het
Emilin2 A T 17: 71,581,258 (GRCm39) D489E probably benign Het
Entrep3 T C 3: 89,091,754 (GRCm39) V87A probably damaging Het
Ermp1 A G 19: 29,623,365 (GRCm39) probably null Het
Fam149a A G 8: 45,794,321 (GRCm39) Y614H probably benign Het
Fnbp1 T C 2: 30,926,131 (GRCm39) probably null Het
Gabrb3 T C 7: 57,241,061 (GRCm39) F13S probably benign Het
Hydin G A 8: 111,320,452 (GRCm39) A4499T probably benign Het
Islr2 A T 9: 58,107,183 (GRCm39) C26S probably damaging Het
Jup T A 11: 100,263,287 (GRCm39) D696V probably benign Het
Kcnq5 A C 1: 21,605,392 (GRCm39) V171G probably damaging Het
Kntc1 T G 5: 123,914,680 (GRCm39) S667A possibly damaging Het
Loxhd1 A G 18: 77,418,755 (GRCm39) T293A possibly damaging Het
Lrp1b C A 2: 41,298,405 (GRCm39) C138F probably damaging Het
Lrrc37 T A 11: 103,427,426 (GRCm39) H1388L unknown Het
Mctp2 A G 7: 71,909,085 (GRCm39) I76T probably benign Het
Or2z8 A G 8: 72,812,028 (GRCm39) Y168C probably damaging Het
Or5k16 T C 16: 58,736,947 (GRCm39) D19G probably benign Het
Pbx1 A G 1: 168,018,841 (GRCm39) probably null Het
Pelp1 A T 11: 70,287,693 (GRCm39) W410R probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pkd1 T C 17: 24,806,971 (GRCm39) L3482P probably benign Het
Plekhn1 C T 4: 156,306,258 (GRCm39) G604E probably benign Het
Ptpn22 A G 3: 103,793,561 (GRCm39) T571A probably benign Het
Qrsl1 A T 10: 43,760,828 (GRCm39) S252T probably damaging Het
Rab3gap2 T A 1: 184,978,863 (GRCm39) M280K probably damaging Het
Serpinh1 T C 7: 98,996,206 (GRCm39) M293V probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a8 T A 17: 28,866,973 (GRCm39) E585D probably benign Het
Slc34a2 T G 5: 53,224,910 (GRCm39) C350W probably damaging Het
Slit2 T A 5: 48,394,586 (GRCm39) probably null Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Trpm7 T C 2: 126,671,083 (GRCm39) K633R possibly damaging Het
Usp38 A C 8: 81,719,928 (GRCm39) S434A probably benign Het
Zbtb16 A G 9: 48,571,101 (GRCm39) F555S probably damaging Het
Zfp141 A T 7: 42,125,705 (GRCm39) S256T 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
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
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'- AGCTGAACACTAGTCTGGATTC -3'
(R):5'- ACACAACTAAGCACTCTCTGGTG -3'

Sequencing Primer
(F):5'- CTGGATTCTTACAGACAGGCTCAG -3'
(R):5'- TCCTATTGGAAGCTTCAGGAATG -3'
Posted On 2015-06-10