Incidental Mutation 'R2403:Umad1'
ID 248810
Institutional Source Beutler Lab
Gene Symbol Umad1
Ensembl Gene ENSMUSG00000089862
Gene Name UMAP1-MVP12 associated (UMA) domain containing 1
Synonyms Gm16039
MMRRC Submission 040369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R2403 (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 C at 8427161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 138 (V138A)
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 benign
Transcript: ENSMUST00000159168
AA Change: V112A

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000159335
AA Change: V112A

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000159378
Predicted Effect probably benign
Transcript: ENSMUST00000159433
AA Change: V112A

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160253
Predicted Effect possibly damaging
Transcript: ENSMUST00000160705
AA Change: V138A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000162564
AA Change: V112A

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
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: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,592 (GRCm39) E925G probably damaging Het
Abca9 T G 11: 110,006,280 (GRCm39) Q1275P probably benign Het
Adgrl1 T A 8: 84,657,870 (GRCm39) M492K probably benign Het
Ankrd50 T A 3: 38,537,234 (GRCm39) K3* probably null Het
Arl5b T C 2: 15,079,848 (GRCm39) S140P probably damaging Het
Armc1 T C 3: 19,211,840 (GRCm39) probably benign Het
Ascc1 T C 10: 59,840,663 (GRCm39) I8T probably benign Het
Bche A G 3: 73,608,805 (GRCm39) V207A probably damaging Het
Cacna2d3 A G 14: 28,627,259 (GRCm39) L1080P probably benign Het
Ceacam3 C A 7: 16,895,779 (GRCm39) A583D probably damaging Het
Cep290 C T 10: 100,373,299 (GRCm39) A1193V probably benign Het
Clcn1 T C 6: 42,290,046 (GRCm39) I827T probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col28a1 T C 6: 8,175,641 (GRCm39) D69G possibly damaging Het
Cts3 A G 13: 61,712,806 (GRCm39) W305R probably damaging Het
Dmwd T C 7: 18,815,084 (GRCm39) I578T possibly damaging Het
Dnmt3a G A 12: 3,949,883 (GRCm39) V559M probably damaging Het
Dysf T C 6: 84,016,549 (GRCm39) V70A possibly damaging Het
Eml6 A G 11: 29,752,434 (GRCm39) V993A probably benign Het
Etl4 T A 2: 20,812,117 (GRCm39) L1768* probably null Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fat3 T G 9: 15,881,167 (GRCm39) D3235A probably damaging Het
Fbxo36 T A 1: 84,877,823 (GRCm39) F162I probably damaging Het
Fgfrl1 T C 5: 108,852,897 (GRCm39) W200R probably damaging Het
Fsip2 T C 2: 82,811,064 (GRCm39) M2461T possibly damaging Het
Fut1 A G 7: 45,268,643 (GRCm39) Y144C probably benign Het
Gprin3 G A 6: 59,331,134 (GRCm39) A391V probably benign Het
H2-Q4 A G 17: 35,598,973 (GRCm39) E81G probably damaging Het
Hacd3 A G 9: 64,908,311 (GRCm39) S162P probably damaging Het
Itga1 A T 13: 115,114,150 (GRCm39) H918Q probably benign Het
Lrp5 C A 19: 3,647,430 (GRCm39) D1271Y probably damaging Het
Lsm8 C T 6: 18,849,643 (GRCm39) T17I probably benign Het
Mup4 T A 4: 59,958,145 (GRCm39) D141V probably damaging Het
Nckap5 G A 1: 125,955,146 (GRCm39) H405Y probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or12k8 T C 2: 36,974,986 (GRCm39) Y258C probably benign Het
Ostf1 T C 19: 18,562,026 (GRCm39) K190R probably benign Het
Pnldc1 A T 17: 13,118,777 (GRCm39) V197E probably damaging Het
Ptprc A G 1: 138,016,270 (GRCm39) S531P probably damaging Het
Ryr3 C T 2: 112,516,973 (GRCm39) E3318K probably damaging Het
Scamp2 T C 9: 57,484,995 (GRCm39) V67A possibly damaging Het
Serpina3g C A 12: 104,207,421 (GRCm39) L195M probably damaging Het
Siglec1 G T 2: 130,916,395 (GRCm39) T1185N possibly damaging Het
Sycp2 G A 2: 178,045,528 (GRCm39) Q31* probably null Het
Tmprss15 T G 16: 78,854,578 (GRCm39) T277P probably damaging Het
Trim34b C T 7: 103,978,876 (GRCm39) S41L probably benign Het
Ttn T C 2: 76,557,705 (GRCm39) T21507A possibly damaging Het
Zfp523 A G 17: 28,414,183 (GRCm39) I72M probably damaging Het
Zfp655 C T 5: 145,181,356 (GRCm39) R405C probably benign Het
Zfp715 G A 7: 42,948,692 (GRCm39) R423C possibly damaging Het
Other mutations in Umad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1878:Umad1 UTSW 6 8,427,181 (GRCm39) missense probably damaging 1.00
R2439:Umad1 UTSW 6 8,427,078 (GRCm39) missense probably damaging 1.00
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'- ATCCAGCGTGACTGTATCAGG -3'
(R):5'- GGGAAATATGAGTGGTCTGAATCC -3'

Sequencing Primer
(F):5'- TATCAGGCCCCGAGACAGAG -3'
(R):5'- ATGATCCTTGCTTGCCTCAAG -3'
Posted On 2014-11-11