Incidental Mutation 'IGL01075:Myadm'
ID51458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myadm
Ensembl Gene ENSMUSG00000068566
Gene Namemyeloid-associated differentiation marker
SynonymsD7Wsu62e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL01075
Quality Score
Status
Chromosome7
Chromosomal Location3289080-3300442 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 3297246 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 175 (T175P)
Ref Sequence ENSEMBL: ENSMUSP00000145120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096744] [ENSMUST00000164553] [ENSMUST00000203328] [ENSMUST00000203566] [ENSMUST00000204541]
Predicted Effect probably damaging
Transcript: ENSMUST00000096744
AA Change: T175P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: T175P

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 probably damaging
Transcript: ENSMUST00000164553
AA Change: T175P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: T175P

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 damaging
Transcript: ENSMUST00000203328
AA Change: T175P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: T175P

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 damaging
Transcript: ENSMUST00000203566
AA Change: T175P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: T175P

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 noncoding transcript
Transcript: ENSMUST00000203600
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,987,025 T700A possibly damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Chd3 T C 11: 69,359,965 D646G probably damaging Het
Esf1 A G 2: 140,120,745 V802A probably benign Het
Gm13084 T C 4: 143,811,646 T252A possibly damaging Het
Hdac6 T C X: 7,936,452 probably null Het
Il1rap A C 16: 26,680,237 N162T possibly damaging Het
Mpdu1 T C 11: 69,657,325 T208A probably damaging Het
Mrpl51 T C 6: 125,192,603 V56A probably benign Het
Nek1 C A 8: 61,124,132 T1077K possibly damaging Het
Olfr1153 A G 2: 87,896,921 T249A probably benign Het
Pcnt G A 10: 76,422,904 Q576* probably null Het
Tchhl1 A T 3: 93,470,316 D109V probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tns3 G A 11: 8,478,399 P848S probably benign Het
Ttc4 T C 4: 106,671,648 I209M probably benign Het
Zfp536 A T 7: 37,567,890 S700R probably damaging Het
Other mutations in Myadm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Myadm APN 7 3297223 missense possibly damaging 0.79
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
R6835:Myadm UTSW 7 3297676 missense possibly damaging 0.69
Posted On2013-06-21