Incidental Mutation 'R2439:Umad1'
ID 249728
Institutional Source Beutler Lab
Gene Symbol Umad1
Ensembl Gene ENSMUSG00000089862
Gene Name UMAP1-MVP12 associated (UMA) domain containing 1
Synonyms Gm16039
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R2439 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 8259288-8428767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8427078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 110 (D110E)
Ref Sequence ENSEMBL: ENSMUSP00000124993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159168] [ENSMUST00000159335] [ENSMUST00000159378] [ENSMUST00000159433] [ENSMUST00000160705] [ENSMUST00000162564] [ENSMUST00000162034]
AlphaFold E0CX23
Predicted Effect probably damaging
Transcript: ENSMUST00000159168
AA Change: D84E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000159335
AA Change: D84E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000159378
AA Change: D84E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000159433
AA Change: D84E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160253
Predicted Effect probably damaging
Transcript: ENSMUST00000160705
AA Change: D110E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000162564
AA Change: D84E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000162034
SMART Domains Protein: ENSMUSP00000124306
Gene: ENSMUSG00000089862

DomainStartEndE-ValueType
low complexity region 40 51 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11b C A 3: 35,868,233 (GRCm39) T635K possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Btla G T 16: 45,059,503 (GRCm39) C69F probably damaging Het
Cdh10 T G 15: 19,013,484 (GRCm39) L695V probably damaging Het
Cfap44 C T 16: 44,301,609 (GRCm39) probably benign Het
Dock10 T G 1: 80,510,149 (GRCm39) N1560H probably damaging Het
Ephb6 C A 6: 41,595,669 (GRCm39) H809Q probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Gdf7 A G 12: 8,348,050 (GRCm39) S416P probably damaging Het
Ints8 T C 4: 11,225,725 (GRCm39) M611V probably benign Het
Lypd8l A G 11: 58,501,603 (GRCm39) C127R probably damaging Het
Mical2 A G 7: 111,994,002 (GRCm39) E504G probably damaging Het
Mrps30 G A 13: 118,521,808 (GRCm39) P231S probably damaging Het
Nr1h3 T C 2: 91,020,565 (GRCm39) D256G probably benign Het
Pramel5 T C 4: 144,000,310 (GRCm39) M89V probably benign Het
Psg18 T C 7: 18,080,044 (GRCm39) T386A probably benign Het
Ptprc A G 1: 137,993,890 (GRCm39) V1180A possibly damaging Het
Rassf8 T C 6: 145,761,060 (GRCm39) S129P probably damaging Het
Rbm6 A G 9: 107,656,796 (GRCm39) Y994H probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc2a4 A G 11: 69,836,451 (GRCm39) F222S possibly damaging Het
Smarca2 T C 19: 26,668,854 (GRCm39) probably null Het
Tmtc4 T G 14: 123,209,315 (GRCm39) N110T probably damaging Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ylpm1 A G 12: 85,060,891 (GRCm39) probably benign Het
Other mutations in Umad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1878:Umad1 UTSW 6 8,427,181 (GRCm39) missense probably damaging 1.00
R2403:Umad1 UTSW 6 8,427,161 (GRCm39) missense possibly damaging 0.84
R4774:Umad1 UTSW 6 8,427,181 (GRCm39) missense probably damaging 1.00
R4816:Umad1 UTSW 6 8,457,462 (GRCm39) intron probably benign
R5068:Umad1 UTSW 6 8,401,157 (GRCm39) splice site probably null
R7130:Umad1 UTSW 6 8,427,185 (GRCm39) missense probably null 0.01
R7487:Umad1 UTSW 6 8,270,560 (GRCm39) missense probably damaging 1.00
R7654:Umad1 UTSW 6 8,426,995 (GRCm39) missense probably damaging 0.99
R7843:Umad1 UTSW 6 8,401,140 (GRCm39) missense unknown
R8103:Umad1 UTSW 6 8,427,121 (GRCm39) missense probably damaging 0.97
R9011:Umad1 UTSW 6 8,373,931 (GRCm39) nonsense probably null
R9432:Umad1 UTSW 6 8,401,096 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AATGGGTTCAAATCTGGCAGG -3'
(R):5'- AAGCTGCTAGGGTATGCATAGAC -3'

Sequencing Primer
(F):5'- CCAGGCTTTTTGATGTACTGATGCC -3'
(R):5'- CTGCTAGGGTATGCATAGACACAAAG -3'
Posted On 2014-11-12