Incidental Mutation 'IGL00843:Hemgn'
ID 11242
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 # IGL00843
Quality Score
Status
Chromosome 4
Chromosomal Location 46393989-46404183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46396240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 332 (M332T)
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: M332T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: M332T

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: M332T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: M332T

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,291,657 (GRCm39) probably null Het
Bpnt2 T C 4: 4,776,308 (GRCm39) probably benign Het
Clcn2 T C 16: 20,522,391 (GRCm39) T772A probably benign Het
Cldn18 A T 9: 99,580,874 (GRCm39) F125I probably benign Het
Ehhadh A G 16: 21,581,379 (GRCm39) S538P possibly damaging Het
Ets2 T G 16: 95,510,837 (GRCm39) F32V probably benign Het
F5 G A 1: 164,039,360 (GRCm39) R1990Q probably benign Het
Fetub A G 16: 22,748,379 (GRCm39) probably benign Het
Hecw1 C T 13: 14,422,158 (GRCm39) E983K probably benign Het
Hmcn1 A G 1: 150,486,464 (GRCm39) I4314T possibly damaging Het
Lonrf2 C A 1: 38,851,616 (GRCm39) probably benign Het
Lrrc9 T C 12: 72,510,191 (GRCm39) I430T possibly damaging Het
Lrrk2 T C 15: 91,641,261 (GRCm39) V1606A possibly damaging Het
Oog2 G T 4: 143,921,742 (GRCm39) L217F probably damaging Het
Plxnc1 T C 10: 94,683,411 (GRCm39) H791R probably benign Het
Prdm2 G A 4: 142,860,884 (GRCm39) S802L probably damaging Het
Prss32 T A 17: 24,076,336 (GRCm39) L233Q probably damaging Het
Rapgef6 T A 11: 54,582,099 (GRCm39) V1337E probably benign Het
Slc15a3 T A 19: 10,830,627 (GRCm39) M326K probably null Het
Slc25a54 A T 3: 109,020,176 (GRCm39) T397S possibly damaging Het
Slfn3 C T 11: 83,104,257 (GRCm39) T376M probably damaging Het
Stradb T A 1: 59,033,568 (GRCm39) D410E probably benign Het
Tdh T C 14: 63,733,213 (GRCm39) T178A probably damaging Het
Tspan12 T A 6: 21,851,081 (GRCm39) probably benign Het
Ube2b A T 11: 51,886,202 (GRCm39) D50E probably benign Het
Zranb1 A C 7: 132,551,622 (GRCm39) H117P probably benign Het
Other mutations in Hemgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03093:Hemgn APN 4 46,396,504 (GRCm39) missense probably benign 0.26
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 2012-12-06