Incidental Mutation 'IGL01875:Hemgn'
ID178880
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 #IGL01875
Quality Score
Status
Chromosome4
Chromosomal Location46393989-46413506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46396994 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 81 (N81D)
Ref Sequence ENSEMBL: ENSMUSP00000103393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071096] [ENSMUST00000107764]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071096
AA Change: N81D

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: N81D

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 possibly damaging
Transcript: ENSMUST00000107764
AA Change: N81D

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: N81D

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,772,856 T287A probably damaging Het
Afm G T 5: 90,548,883 probably benign Het
Ankrd24 A G 10: 81,629,737 probably benign Het
Ankrd53 G T 6: 83,763,049 E62* probably null Het
Atg4b A G 1: 93,778,310 S162G probably damaging Het
B530045E10Rik A T 10: 99,422,315 noncoding transcript Het
Ccng1 A G 11: 40,752,356 V88A probably benign Het
Ces1e T A 8: 93,223,896 M86L probably benign Het
Chrne A T 11: 70,618,672 probably null Het
Ctsh T C 9: 90,064,207 S109P probably damaging Het
Eif4g1 A C 16: 20,681,040 I420L probably damaging Het
Ep300 T A 15: 81,640,023 S1351T unknown Het
Fgfr1 A G 8: 25,573,553 M732V possibly damaging Het
Gata5 T G 2: 180,327,345 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm3633 A T 14: 42,639,277 M18K probably damaging Het
Gucy1b2 A G 14: 62,420,146 L211P probably damaging Het
Irs2 A T 8: 11,006,221 M737K probably damaging Het
Itgb7 C A 15: 102,217,995 C502F probably damaging Het
Jakmip1 G T 5: 37,120,980 A534S probably damaging Het
Kidins220 A G 12: 25,057,729 H1636R probably benign Het
Kirrel T A 3: 87,095,730 I119F probably damaging Het
Lrba T C 3: 86,310,047 V527A probably damaging Het
Mitf A G 6: 98,017,895 E409G probably benign Het
Mtrr T G 13: 68,572,609 K289T probably damaging Het
Muc2 A T 7: 141,752,740 I739F probably damaging Het
Ncor2 T C 5: 125,065,870 T612A unknown Het
Olfr1126 T A 2: 87,457,310 N48K probably damaging Het
Olfr54 A T 11: 51,027,375 R124S probably damaging Het
Olfr806 T A 10: 129,738,922 probably benign Het
Olfr901 T A 9: 38,430,298 N5K probably damaging Het
P4ha3 T A 7: 100,300,652 C109S probably damaging Het
Prkd3 T C 17: 78,957,206 E660G possibly damaging Het
Rbm4b G A 19: 4,762,191 M209I probably benign Het
Reln T A 5: 21,904,717 T3132S probably benign Het
Selenbp2 T A 3: 94,698,144 D92E possibly damaging Het
Slfn8 G T 11: 83,004,079 Q634K probably benign Het
Sumo3 A T 10: 77,613,998 I57F probably benign Het
Tacr1 A G 6: 82,557,016 Y341C probably benign Het
Tlr4 T A 4: 66,839,489 L173Q probably damaging Het
Tshz3 C T 7: 36,769,960 T458M probably damaging Het
Vmn1r91 T A 7: 20,101,934 C259* probably null Het
Vmn2r16 T C 5: 109,330,411 F11L probably benign Het
Vmn2r28 T A 7: 5,481,303 M633L probably benign Het
Vmn2r35 T C 7: 7,816,773 probably benign Het
Vwc2l G T 1: 70,729,013 A79S probably benign Het
Zfhx2 G A 14: 55,063,915 S2204F unknown 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
IGL01937:Hemgn APN 4 46396057 missense probably damaging 1.00
IGL02217:Hemgn APN 4 46396420 missense probably damaging 0.98
IGL02325:Hemgn APN 4 46396085 missense probably benign 0.05
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
Z1177:Hemgn UTSW 4 46400693 missense possibly damaging 0.92
Posted On2014-05-07