Incidental Mutation 'R5445:Hemgn'
ID 427389
Institutional Source Beutler Lab
Gene Symbol Hemgn
Ensembl Gene ENSMUSG00000028332
Gene Name hemogen
Synonyms 4921524M03Rik, EDAG
MMRRC Submission 043010-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5445 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 46393989-46404183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46400738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 41 (R41G)
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: R41G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: R41G

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: R41G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: R41G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,978,557 (GRCm39) D300E probably damaging Het
Apbb1ip T C 2: 22,725,960 (GRCm39) V244A possibly damaging Het
Arhgap32 T C 9: 32,159,678 (GRCm39) S232P probably benign Het
Atf7ip G A 6: 136,564,255 (GRCm39) V833M probably damaging Het
Casp7 A G 19: 56,421,770 (GRCm39) probably null Het
Ccdc9b T C 2: 118,590,067 (GRCm39) D259G probably damaging Het
Celsr2 T A 3: 108,299,974 (GRCm39) E2911D probably benign Het
Cep350 T C 1: 155,770,469 (GRCm39) D1807G probably benign Het
Cfap251 C T 5: 123,425,240 (GRCm39) T294M probably damaging Het
Chrd A G 16: 20,557,660 (GRCm39) T753A possibly damaging Het
Clasp2 A G 9: 113,733,014 (GRCm39) D971G probably damaging Het
Cnnm2 A G 19: 46,865,727 (GRCm39) T772A possibly damaging Het
Cntn1 A T 15: 92,192,958 (GRCm39) N687Y probably damaging Het
Col6a3 G A 1: 90,709,761 (GRCm39) R1812* probably null Het
Dsc2 T C 18: 20,168,360 (GRCm39) I700V possibly damaging Het
Flt3 G A 5: 147,291,905 (GRCm39) Q540* probably null Het
Fmo4 T A 1: 162,632,842 (GRCm39) I170F probably benign Het
Fra10ac1 T A 19: 38,207,910 (GRCm39) D72V possibly damaging Het
Garin2 G A 12: 78,761,890 (GRCm39) E185K probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm2381 T G 7: 42,469,425 (GRCm39) H233P probably damaging Het
Gm5148 T A 3: 37,768,995 (GRCm39) Q75L probably damaging Het
Gm8369 T C 19: 11,482,170 (GRCm39) V27A possibly damaging Het
Gpr157 T C 4: 150,186,825 (GRCm39) S318P probably benign Het
Hectd4 G A 5: 121,404,337 (GRCm39) V405M probably benign Het
Hhipl1 T A 12: 108,294,467 (GRCm39) L791Q probably damaging Het
Hjurp T G 1: 88,194,038 (GRCm39) K290T probably benign Het
Ifi207 T C 1: 173,555,363 (GRCm39) E773G probably damaging Het
Kcnh6 T C 11: 105,914,685 (GRCm39) Y697H probably damaging Het
Lonrf2 T C 1: 38,846,234 (GRCm39) T313A probably benign Het
Lrba G T 3: 86,275,902 (GRCm39) V1757L probably benign Het
Lrrc24 T C 15: 76,600,306 (GRCm39) T278A probably benign Het
Ltbp2 T C 12: 84,856,428 (GRCm39) I679V probably null Het
Mapk4 G T 18: 74,064,073 (GRCm39) T383K probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mia3 A G 1: 183,117,471 (GRCm39) V208A probably benign Het
Myo15a C A 11: 60,411,603 (GRCm39) C3234* probably null Het
Nlrp1b G T 11: 71,108,701 (GRCm39) Q267K probably benign Het
Nphp3 A G 9: 103,881,922 (GRCm39) K37E probably damaging Het
Nwd2 T C 5: 63,962,681 (GRCm39) M755T probably damaging Het
Or10u4 T A 10: 129,802,158 (GRCm39) H137L probably benign Het
Or52ac1 A G 7: 104,246,028 (GRCm39) F120S probably damaging Het
Or5p58 A G 7: 107,693,949 (GRCm39) V276A possibly damaging Het
Pdlim5 C T 3: 142,058,495 (GRCm39) R83K probably null Het
Plekha5 A T 6: 140,498,459 (GRCm39) R173* probably null Het
Pramel25 T A 4: 143,521,707 (GRCm39) V441E possibly damaging Het
Rbms3 T A 9: 117,080,853 (GRCm39) D6V possibly damaging Het
Rhoq A T 17: 87,271,755 (GRCm39) Y57F probably benign Het
Rrm1 A T 7: 102,100,230 (GRCm39) T204S possibly damaging Het
Slf1 A T 13: 77,239,323 (GRCm39) I447N probably benign Het
Smarcc2 T A 10: 128,323,943 (GRCm39) probably benign Het
Spdye4c C T 2: 128,438,484 (GRCm39) Q281* probably null Het
Tert T A 13: 73,792,403 (GRCm39) M890K probably benign Het
Tln1 C A 4: 43,543,905 (GRCm39) R1198L probably benign Het
Tmco4 A G 4: 138,748,178 (GRCm39) M253V probably damaging Het
Usp19 G T 9: 108,375,119 (GRCm39) V782F possibly damaging Het
Usp33 T A 3: 152,080,260 (GRCm39) S464T probably damaging Het
Usp47 A T 7: 111,673,928 (GRCm39) Y397F probably damaging Het
Vmn1r12 A G 6: 57,136,466 (GRCm39) T144A probably benign Het
Vmn2r90 A T 17: 17,954,386 (GRCm39) H850L probably benign Het
Zfhx3 A T 8: 109,682,842 (GRCm39) Q3427L unknown Het
Zfp236 G T 18: 82,700,281 (GRCm39) Q63K probably benign Het
Zfp7 T A 15: 76,775,054 (GRCm39) C365* probably null Het
Zfp786 T C 6: 47,796,619 (GRCm39) E773G probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CAACCCACTGGATTCTGCATTAG -3'
(R):5'- CCAGGATAGGGTTTCTAAAATTCTG -3'

Sequencing Primer
(F):5'- TTCTGCATTAGAAGCAAACACAC -3'
(R):5'- ACCGGACATTCATATGGTGC -3'
Posted On 2016-09-01