Incidental Mutation 'IGL02746:Hemgn'
ID306035
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 #IGL02746
Quality Score
Status
Chromosome4
Chromosomal Location46393989-46413506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46400740 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 40 (L40P)
Ref Sequence ENSEMBL: ENSMUSP00000103393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071096] [ENSMUST00000107764]
Predicted Effect probably damaging
Transcript: ENSMUST00000071096
AA Change: L40P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: L40P

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 damaging
Transcript: ENSMUST00000107764
AA Change: L40P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: L40P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,669,503 probably benign Het
Adck5 A T 15: 76,589,154 M68L probably benign Het
Aox3 T C 1: 58,183,542 S1165P possibly damaging Het
Arhgap23 A G 11: 97,454,204 probably benign Het
Brdt T C 5: 107,370,324 L771P probably benign Het
Ccdc134 T A 15: 82,131,737 probably benign Het
Cdc42bpa T A 1: 180,111,747 D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,970,220 T106A probably damaging Het
Cox10 G A 11: 63,964,531 probably benign Het
Cubn C A 2: 13,445,040 C891F probably damaging Het
Cyb5rl A G 4: 107,068,639 E6G probably benign Het
Dhrs2 T C 14: 55,241,171 S258P probably damaging Het
Dnah10 T C 5: 124,730,086 L145P possibly damaging Het
Epc1 A G 18: 6,454,317 I129T probably benign Het
Gkn3 A G 6: 87,387,357 probably benign Het
Gls2 A G 10: 128,200,956 D202G probably damaging Het
Golph3 C T 15: 12,349,415 R174W probably damaging Het
Gpatch4 A C 3: 88,054,391 E119A possibly damaging Het
Ifi27l2b A T 12: 103,451,234 D231E unknown Het
Klf12 T C 14: 99,900,220 I297V probably benign Het
Lzts3 T C 2: 130,636,341 N165S probably damaging Het
Nlrp4e G A 7: 23,321,839 V584I probably benign Het
Npas4 T C 19: 4,986,667 T490A probably damaging Het
Pikfyve C A 1: 65,234,272 H615Q probably damaging Het
Plce1 T A 19: 38,698,472 L608Q probably damaging Het
Pou2f3 T G 9: 43,146,846 Q67H probably benign Het
Rev3l T C 10: 39,824,589 L1694P probably damaging Het
RP24-77E13.10 A G 7: 7,240,179 F24S probably damaging Het
Rpl4 A G 9: 64,175,650 T117A probably benign Het
Scn5a T C 9: 119,550,637 N194D probably damaging Het
Sec16b T A 1: 157,546,289 probably benign Het
Slc12a5 A T 2: 164,974,916 M97L probably benign Het
Stard13 A G 5: 151,046,857 probably benign Het
Stau1 A C 2: 166,954,898 probably null Het
Thg1l A T 11: 45,948,227 C219* probably null Het
Togaram1 G T 12: 64,966,496 E174* probably null Het
Vmn1r237 T C 17: 21,314,218 S68P possibly damaging Het
Vmn2r3 A T 3: 64,259,818 S631T possibly 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
IGL02325:Hemgn APN 4 46396085 missense probably benign 0.05
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 On2015-04-16