Incidental Mutation 'IGL03093:Hemgn'
ID 418445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hemgn
Ensembl Gene ENSMUSG00000028332
Gene Name hemogen
Synonyms 4921524M03Rik, EDAG
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03093
Quality Score
Status
Chromosome 4
Chromosomal Location 46393989-46404183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46396504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 244 (M244K)
Ref Sequence ENSEMBL: ENSMUSP00000103393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071096] [ENSMUST00000107764]
AlphaFold Q9ERZ0
Predicted Effect probably benign
Transcript: ENSMUST00000071096
AA Change: M244K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: M244K

DomainStartEndE-ValueType
low complexity region 66 81 N/A INTRINSIC
internal_repeat_1 160 256 4.18e-7 PROSPERO
low complexity region 314 326 N/A INTRINSIC
internal_repeat_1 346 436 4.18e-7 PROSPERO
low complexity region 444 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107764
AA Change: M244K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: M244K

DomainStartEndE-ValueType
low complexity region 66 81 N/A INTRINSIC
internal_repeat_1 160 256 4.18e-7 PROSPERO
low complexity region 314 326 N/A INTRINSIC
internal_repeat_1 346 436 4.18e-7 PROSPERO
low complexity region 444 455 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Hemgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Hemgn APN 4 46,396,240 (GRCm39) missense probably benign
IGL00846:Hemgn APN 4 46,396,171 (GRCm39) missense possibly damaging 0.91
IGL00930:Hemgn APN 4 46,396,383 (GRCm39) nonsense probably null
IGL01875:Hemgn APN 4 46,396,994 (GRCm39) missense possibly damaging 0.65
IGL01937:Hemgn APN 4 46,396,057 (GRCm39) missense probably damaging 1.00
IGL02217:Hemgn APN 4 46,396,420 (GRCm39) missense probably damaging 0.98
IGL02325:Hemgn APN 4 46,396,085 (GRCm39) missense probably benign 0.05
IGL02746:Hemgn APN 4 46,400,740 (GRCm39) missense probably damaging 0.99
IGL03240:Hemgn APN 4 46,400,732 (GRCm39) nonsense probably null
PIT4504001:Hemgn UTSW 4 46,395,863 (GRCm39) missense probably benign
R0925:Hemgn UTSW 4 46,397,049 (GRCm39) missense probably damaging 0.98
R1413:Hemgn UTSW 4 46,396,091 (GRCm39) missense possibly damaging 0.94
R1795:Hemgn UTSW 4 46,395,958 (GRCm39) missense probably damaging 0.97
R1844:Hemgn UTSW 4 46,396,655 (GRCm39) missense possibly damaging 0.85
R2152:Hemgn UTSW 4 46,396,607 (GRCm39) nonsense probably null
R2169:Hemgn UTSW 4 46,396,417 (GRCm39) missense possibly damaging 0.92
R2207:Hemgn UTSW 4 46,396,301 (GRCm39) missense possibly damaging 0.66
R3742:Hemgn UTSW 4 46,396,421 (GRCm39) missense possibly damaging 0.94
R4515:Hemgn UTSW 4 46,396,477 (GRCm39) missense probably damaging 0.98
R5310:Hemgn UTSW 4 46,403,927 (GRCm39) missense possibly damaging 0.77
R5445:Hemgn UTSW 4 46,400,738 (GRCm39) missense probably benign 0.09
R5456:Hemgn UTSW 4 46,396,571 (GRCm39) missense probably damaging 0.99
R6520:Hemgn UTSW 4 46,396,466 (GRCm39) missense probably damaging 0.98
R6575:Hemgn UTSW 4 46,395,990 (GRCm39) missense possibly damaging 0.46
R6983:Hemgn UTSW 4 46,395,997 (GRCm39) missense possibly damaging 0.92
R7204:Hemgn UTSW 4 46,397,054 (GRCm39) missense possibly damaging 0.94
R7443:Hemgn UTSW 4 46,396,145 (GRCm39) missense probably damaging 0.96
R7567:Hemgn UTSW 4 46,397,034 (GRCm39) missense probably damaging 0.96
R7623:Hemgn UTSW 4 46,396,504 (GRCm39) missense probably benign 0.07
R8181:Hemgn UTSW 4 46,396,504 (GRCm39) missense possibly damaging 0.52
R8353:Hemgn UTSW 4 46,403,935 (GRCm39) missense possibly damaging 0.92
R8714:Hemgn UTSW 4 46,395,904 (GRCm39) missense probably damaging 1.00
R8725:Hemgn UTSW 4 46,394,638 (GRCm39) missense probably benign 0.03
R8814:Hemgn UTSW 4 46,400,717 (GRCm39) missense possibly damaging 0.66
R8865:Hemgn UTSW 4 46,396,682 (GRCm39) missense possibly damaging 0.90
R9164:Hemgn UTSW 4 46,396,106 (GRCm39) missense probably benign 0.03
R9335:Hemgn UTSW 4 46,394,647 (GRCm39) missense probably benign 0.09
Z1177:Hemgn UTSW 4 46,400,693 (GRCm39) missense possibly damaging 0.92
Posted On 2016-08-02