Incidental Mutation 'IGL02325:Hemgn'
ID288433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hemgn
Ensembl Gene ENSMUSG00000028332
Gene Namehemogen
Synonyms4921524M03Rik, EDAG
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02325
Quality Score
Status
Chromosome4
Chromosomal Location46393989-46413506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 46396085 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 384 (I384L)
Ref Sequence ENSEMBL: ENSMUSP00000103393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071096] [ENSMUST00000107764]
Predicted Effect probably benign
Transcript: ENSMUST00000071096
AA Change: I384L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: I384L

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: I384L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: I384L

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,111,954 I233N probably damaging Het
Agtpbp1 C T 13: 59,500,489 G393S probably benign Het
Ahctf1 T C 1: 179,776,015 D822G probably benign Het
Alpk1 T C 3: 127,679,903 N817S probably benign Het
Aoah G A 13: 20,917,125 E272K probably damaging Het
Aoc1 A G 6: 48,905,895 D235G possibly damaging Het
Ccdc186 G T 19: 56,813,356 Q110K probably benign Het
Celsr2 G T 3: 108,412,871 T875K probably damaging Het
Chdh T C 14: 30,032,825 V264A probably benign Het
Col15a1 A G 4: 47,289,364 T854A probably damaging Het
Cuedc1 A T 11: 88,170,173 E114V probably null Het
Ddx23 A T 15: 98,647,193 D677E possibly damaging Het
Ddx24 A G 12: 103,416,266 V640A probably damaging Het
Ddx25 T C 9: 35,554,508 probably benign Het
Ddx43 T C 9: 78,402,490 probably benign Het
Diaph1 T C 18: 37,853,600 K1111E probably damaging Het
Dnah9 T C 11: 65,834,217 D4370G probably damaging Het
Eef1e1 A T 13: 38,656,036 probably benign Het
Egfem1 T C 3: 29,151,917 I101T probably benign Het
Gpr142 G T 11: 114,806,121 L164F probably damaging Het
Gtf2h5 T A 17: 6,080,831 probably null Het
Hap1 T A 11: 100,354,364 probably null Het
Ints3 A T 3: 90,404,042 H419Q probably damaging Het
Itgb2 T C 10: 77,547,192 L132P probably damaging Het
Krtap29-1 C T 11: 99,978,333 V241M probably damaging Het
Lrguk A G 6: 34,129,179 E713G probably benign Het
Lrrk2 G T 15: 91,726,308 probably null Het
Nlrp14 A G 7: 107,182,316 D240G possibly damaging Het
Olfr1113 G T 2: 87,213,506 G205W probably damaging Het
Omt2b A T 9: 78,328,572 T60S possibly damaging Het
Pcdhb2 A G 18: 37,296,680 N569D possibly damaging Het
Plcd3 G A 11: 103,080,621 R66* probably null Het
Polr1a G A 6: 71,920,657 R212Q probably benign Het
Pou3f2 A T 4: 22,487,020 L371Q probably damaging Het
Rnf207 A T 4: 152,311,780 I509N probably damaging Het
Sema5a T G 15: 32,686,831 S1030A possibly damaging Het
Shank1 C A 7: 44,327,080 S534* probably null Het
Sntg2 T C 12: 30,195,543 T495A probably benign Het
Spem2 A T 11: 69,816,963 V392D probably benign Het
Srrm2 T A 17: 23,810,479 probably benign Het
Tbc1d8 A T 1: 39,394,240 F287Y probably damaging Het
Tgfbi A G 13: 56,631,230 D422G probably benign Het
Tppp G A 13: 74,021,176 A12T probably benign Het
Usp46 C T 5: 74,037,028 probably null Het
Zdhhc12 C T 2: 30,091,436 V205I probably damaging Het
Other mutations in Hemgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Hemgn APN 4 46396240 missense probably benign
IGL00846:Hemgn APN 4 46396171 missense possibly damaging 0.91
IGL00930:Hemgn APN 4 46396383 nonsense probably null
IGL01875:Hemgn APN 4 46396994 missense possibly damaging 0.65
IGL01937:Hemgn APN 4 46396057 missense probably damaging 1.00
IGL02217:Hemgn APN 4 46396420 missense probably damaging 0.98
IGL02746:Hemgn APN 4 46400740 missense probably damaging 0.99
IGL03093:Hemgn APN 4 46396504 missense probably benign 0.26
IGL03240:Hemgn APN 4 46400732 nonsense probably null
PIT4504001:Hemgn UTSW 4 46395863 missense probably benign
R0925:Hemgn UTSW 4 46397049 missense probably damaging 0.98
R1413:Hemgn UTSW 4 46396091 missense possibly damaging 0.94
R1795:Hemgn UTSW 4 46395958 missense probably damaging 0.97
R1844:Hemgn UTSW 4 46396655 missense possibly damaging 0.85
R2152:Hemgn UTSW 4 46396607 nonsense probably null
R2169:Hemgn UTSW 4 46396417 missense possibly damaging 0.92
R2207:Hemgn UTSW 4 46396301 missense possibly damaging 0.66
R3742:Hemgn UTSW 4 46396421 missense possibly damaging 0.94
R4515:Hemgn UTSW 4 46396477 missense probably damaging 0.98
R5310:Hemgn UTSW 4 46403927 missense possibly damaging 0.77
R5445:Hemgn UTSW 4 46400738 missense probably benign 0.09
R5456:Hemgn UTSW 4 46396571 missense probably damaging 0.99
R6520:Hemgn UTSW 4 46396466 missense probably damaging 0.98
R6575:Hemgn UTSW 4 46395990 missense possibly damaging 0.46
R6983:Hemgn UTSW 4 46395997 missense possibly damaging 0.92
R7204:Hemgn UTSW 4 46397054 missense possibly damaging 0.94
R7443:Hemgn UTSW 4 46396145 missense probably damaging 0.96
R7567:Hemgn UTSW 4 46397034 missense probably damaging 0.96
R7623:Hemgn UTSW 4 46396504 missense probably benign 0.07
R8181:Hemgn UTSW 4 46396504 missense not run
Z1177:Hemgn UTSW 4 46400693 missense possibly damaging 0.92
Posted On2015-04-16