Incidental Mutation 'R5456:Hemgn'
ID 432748
Institutional Source Beutler Lab
Gene Symbol Hemgn
Ensembl Gene ENSMUSG00000028332
Gene Name hemogen
Synonyms 4921524M03Rik, EDAG
MMRRC Submission 043019-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5456 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 46393989-46404183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46396571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 222 (V222M)
Ref Sequence ENSEMBL: ENSMUSP00000103393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071096] [ENSMUST00000107764]
AlphaFold Q9ERZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000071096
AA Change: V222M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: V222M

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: V222M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: V222M

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,889,759 (GRCm39) D37G probably damaging Het
Adcy5 T C 16: 35,118,892 (GRCm39) F1081S probably damaging Het
Apmap T A 2: 150,431,989 (GRCm39) I128L probably benign Het
Arhgap12 G A 18: 6,112,170 (GRCm39) Q65* probably null Het
Baat C T 4: 49,502,949 (GRCm39) V58I possibly damaging Het
Bco2 T C 9: 50,456,644 (GRCm39) probably null Het
Bend3 T C 10: 43,386,542 (GRCm39) Y312H probably damaging Het
Btnl2 A T 17: 34,582,295 (GRCm39) Y287F probably benign Het
Cd22 T C 7: 30,575,464 (GRCm39) I193V probably benign Het
Commd3 A G 2: 18,678,968 (GRCm39) E95G probably damaging Het
Dcbld1 A G 10: 52,190,486 (GRCm39) D215G probably damaging Het
Elfn1 A G 5: 139,958,571 (GRCm39) Y525C probably damaging Het
Fam83b T C 9: 76,399,877 (GRCm39) T409A probably benign Het
Fshr T A 17: 89,293,776 (GRCm39) I301F probably benign Het
Igsf3 C T 3: 101,334,537 (GRCm39) H205Y probably benign Het
Mfsd1 T C 3: 67,497,166 (GRCm39) I147T probably benign Het
Mslnl A G 17: 25,962,133 (GRCm39) D177G probably damaging Het
Nat2 G A 8: 67,954,225 (GRCm39) V112I probably damaging Het
Or4c10b G A 2: 89,711,602 (GRCm39) G144E probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pabpc1l T C 2: 163,869,580 (GRCm39) S127P probably damaging Het
Poln A T 5: 34,164,786 (GRCm39) L845Q possibly damaging Het
Ppm1f T A 16: 16,741,610 (GRCm39) D361E probably damaging Het
Rapgef5 T A 12: 117,692,381 (GRCm39) probably null Het
Rarb G A 14: 16,436,843 (GRCm38) T226I probably damaging Het
Sel1l3 T C 5: 53,357,378 (GRCm39) K205E probably benign Het
Sh3glb1 T A 3: 144,415,114 (GRCm39) I75L probably benign Het
Srgap1 G A 10: 121,705,716 (GRCm39) S236L probably benign Het
Tmco3 A G 8: 13,369,815 (GRCm39) Y609C probably damaging Het
Trhde A G 10: 114,322,665 (GRCm39) V712A possibly damaging Het
Trim13 A G 14: 61,842,523 (GRCm39) D180G possibly damaging Het
Tst T C 15: 78,284,158 (GRCm39) E223G probably damaging Het
Umodl1 A G 17: 31,201,263 (GRCm39) I397M probably benign Het
Usp31 T C 7: 121,269,500 (GRCm39) D481G probably damaging Het
Vps13c T A 9: 67,834,729 (GRCm39) M1686K possibly damaging Het
Wdr83 T C 8: 85,806,837 (GRCm39) H81R probably benign 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
R5445:Hemgn UTSW 4 46,400,738 (GRCm39) missense probably benign 0.09
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'- CAGCATCTCCAGGTGTTACAC -3'
(R):5'- TCTCCTACCACATGCCAAGG -3'

Sequencing Primer
(F):5'- TCTCCAGGTGTTACACAGGGAAAG -3'
(R):5'- TGCCAAGGAATAGCAGTACTTC -3'
Posted On 2016-10-06