Incidental Mutation 'R6835:Myadm'
ID534389
Institutional Source Beutler Lab
Gene Symbol Myadm
Ensembl Gene ENSMUSG00000068566
Gene Namemyeloid-associated differentiation marker
SynonymsD7Wsu62e
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R6835 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location3289080-3300442 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3297676 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 318 (V318A)
Ref Sequence ENSEMBL: ENSMUSP00000145120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096744] [ENSMUST00000164553] [ENSMUST00000203328] [ENSMUST00000203566] [ENSMUST00000204541]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096744
AA Change: V318A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: V318A

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:MARVEL 25 151 7.2e-16 PFAM
Pfam:MARVEL 162 311 1.6e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164553
AA Change: V318A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: V318A

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:MARVEL 25 151 5.6e-16 PFAM
Pfam:MARVEL 162 311 1.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203328
AA Change: V318A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: V318A

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:MARVEL 25 151 5.6e-16 PFAM
Pfam:MARVEL 162 311 1.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203566
AA Change: V318A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: V318A

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:MARVEL 25 151 5.6e-16 PFAM
Pfam:MARVEL 162 311 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204541
SMART Domains Protein: ENSMUSP00000145426
Gene: ENSMUSG00000068566

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:MARVEL 25 81 4.3e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A G 9: 107,930,562 R695G probably benign Het
Arhgef4 A G 1: 34,806,493 H1533R probably damaging Het
Birc6 T C 17: 74,642,504 L3120P probably damaging Het
Cfap46 T A 7: 139,652,498 I850F probably damaging Het
Crym A C 7: 120,186,645 S311A probably benign Het
Cttn T C 7: 144,456,497 probably null Het
Dtnb C T 12: 3,632,841 probably benign Het
Edem1 T C 6: 108,854,399 V607A probably benign Het
Etfa A G 9: 55,495,819 V64A probably benign Het
Fam133b A G 5: 3,554,732 T40A possibly damaging Het
Fmn2 C A 1: 174,699,669 D1442E probably damaging Het
Gpi1 T C 7: 34,227,138 K128E possibly damaging Het
Gpr179 A T 11: 97,347,467 F310L probably damaging Het
Hdac7 T A 15: 97,802,747 H531L probably damaging Het
Hfm1 G A 5: 106,878,815 R145* probably null Het
Hsp90b1 A T 10: 86,694,085 D573E probably damaging Het
Hunk T G 16: 90,472,524 W243G probably damaging Het
Icam1 G T 9: 21,027,125 G327W possibly damaging Het
Ino80d C A 1: 63,074,326 A322S probably benign Het
Itpkc A C 7: 27,227,815 S225A probably benign Het
Krt75 C T 15: 101,571,037 R286Q probably benign Het
Lmnb2 A G 10: 80,909,960 L95P probably damaging Het
Mns1 T C 9: 72,452,744 M392T probably damaging Het
Morc3 A T 16: 93,847,421 N200I probably damaging Het
Mrvi1 T G 7: 110,921,334 E278A probably damaging Het
Nt5dc1 A C 10: 34,310,379 S398A probably benign Het
Olfr155 T C 4: 43,854,912 V201A probably benign Het
Olfr391-ps A G 11: 73,799,235 I174T possibly damaging Het
Pcdhga2 T C 18: 37,670,789 I562T probably damaging Het
Pcdhgb1 T A 18: 37,680,500 C15S probably benign Het
Pikfyve T G 1: 65,258,843 L1532R probably damaging Het
Rdh7 T A 10: 127,884,739 T255S probably benign Het
Rtel1 A G 2: 181,355,953 T1165A probably benign Het
Sdk2 C T 11: 113,830,048 A1352T probably damaging Het
Strip2 T C 6: 29,941,917 S629P probably damaging Het
Taf5 A G 19: 47,077,337 T494A possibly damaging Het
Tek T G 4: 94,853,434 N809K possibly damaging Het
Tmbim7 A T 5: 3,661,943 T63S probably benign Het
Utrn A T 10: 12,727,764 L624Q probably damaging Het
Xbp1 A G 11: 5,521,809 probably benign Het
Zbp1 T A 2: 173,213,911 probably null Het
Zfp112 T C 7: 24,125,806 C400R probably damaging Het
Zfp202 C T 9: 40,210,235 probably null Het
Zfp747 T C 7: 127,374,047 E317G possibly damaging Het
Other mutations in Myadm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Myadm APN 7 3297223 missense possibly damaging 0.79
IGL01075:Myadm APN 7 3297246 missense probably damaging 1.00
IGL03342:Myadm APN 7 3296887 missense possibly damaging 0.93
R0005:Myadm UTSW 7 3297564 nonsense probably null
R0269:Myadm UTSW 7 3296757 missense unknown
R0413:Myadm UTSW 7 3296760 frame shift probably null
R0414:Myadm UTSW 7 3296760 frame shift probably null
R0666:Myadm UTSW 7 3297349 missense probably damaging 0.98
R3036:Myadm UTSW 7 3297543 missense probably benign
R4275:Myadm UTSW 7 3297102 missense probably benign 0.01
R4606:Myadm UTSW 7 3297400 nonsense probably null
R5764:Myadm UTSW 7 3297252 missense possibly damaging 0.93
R6558:Myadm UTSW 7 3297061 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCCTCTACCAATTTGATCAG -3'
(R):5'- TCAAGGGTAAAACAGGCATACC -3'

Sequencing Primer
(F):5'- CCAATTTGATCAGAGATATCAGGGCC -3'
(R):5'- GGTAAAACAGGCATACCAGAAG -3'
Posted On2018-09-12