Incidental Mutation 'R5280:Gm20821'
ID 404186
Institutional Source Beutler Lab
Gene Symbol Gm20821
Ensembl Gene ENSMUSG00000094556
Gene Name predicted gene, 20821
Synonyms
MMRRC Submission 042840-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5280 (G1)
Quality Score 83.5
Status Not validated
Chromosome Y
Chromosomal Location 9781804-9784197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9783963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 195 (K195M)
Ref Sequence ENSEMBL: ENSMUSP00000137322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179829] [ENSMUST00000180352]
AlphaFold J3QPJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000179829
AA Change: K195M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136629
Gene: ENSMUSG00000094556
AA Change: K195M

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Spin-Ssty 21 70 3.3e-24 PFAM
Pfam:Spin-Ssty 100 149 1.4e-24 PFAM
Pfam:Spin-Ssty 178 223 2.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180352
AA Change: K195M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137322
Gene: ENSMUSG00000094556
AA Change: K195M

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Spin-Ssty 21 70 1.2e-23 PFAM
Pfam:Spin-Ssty 100 149 2e-23 PFAM
Pfam:Spin-Ssty 178 223 1.2e-17 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 C T 17: 43,737,225 (GRCm39) T218I probably damaging Het
Adgrv1 C A 13: 81,545,584 (GRCm39) S5567I possibly damaging Het
Alpk1 T C 3: 127,474,813 (GRCm39) T397A probably benign Het
Atp9a T A 2: 168,481,908 (GRCm39) Y880F possibly damaging Het
Celsr1 T C 15: 85,814,747 (GRCm39) T1905A probably benign Het
Chd8 G A 14: 52,442,582 (GRCm39) A656V possibly damaging Het
Dffa A G 4: 149,202,391 (GRCm39) N265S probably benign Het
Frrs1 A G 3: 116,674,545 (GRCm39) D109G probably benign Het
Ifi207 A T 1: 173,557,870 (GRCm39) N289K unknown Het
Kank1 T C 19: 25,388,669 (GRCm39) F781L probably benign Het
Lrba A T 3: 86,232,329 (GRCm39) M759L possibly damaging Het
Lrp8 A G 4: 107,711,518 (GRCm39) Y307C probably damaging Het
Neb T C 2: 52,037,168 (GRCm39) H6847R probably damaging Het
Or2ag19 G A 7: 106,443,902 (GRCm39) C28Y probably benign Het
Or52ab4 T C 7: 102,987,708 (GRCm39) V149A probably benign Het
Pcdha5 C A 18: 37,094,755 (GRCm39) Y421* probably null Het
Pclo T A 5: 14,590,731 (GRCm39) D1010E unknown Het
Pld2 A T 11: 70,443,585 (GRCm39) D449V probably damaging Het
Ppfia1 C A 7: 144,038,832 (GRCm39) M1032I possibly damaging Het
Prickle2 C A 6: 92,353,191 (GRCm39) L758F probably damaging Het
Sarm1 A G 11: 78,374,302 (GRCm39) V564A probably damaging Het
Taf1b C A 12: 24,599,437 (GRCm39) F398L probably benign Het
Tll2 A G 19: 41,105,696 (GRCm39) I361T possibly damaging Het
Tmem260 T C 14: 48,742,716 (GRCm39) V517A probably benign Het
Usp24 A G 4: 106,198,411 (GRCm39) K106E probably benign Het
Vcan C A 13: 89,838,405 (GRCm39) V2380F probably benign Het
Vmn2r65 A G 7: 84,595,542 (GRCm39) S381P probably damaging Het
Vmn2r73 T C 7: 85,507,155 (GRCm39) D719G probably damaging Het
Wdr5b T C 16: 35,862,202 (GRCm39) V107A probably benign Het
Wdr7 G T 18: 64,120,383 (GRCm39) V1475F probably benign Het
Ythdc2 A G 18: 44,993,688 (GRCm39) D911G probably damaging Het
Zbtb32 T A 7: 30,289,629 (GRCm39) E11V probably damaging Het
Zfp563 T G 17: 33,323,812 (GRCm39) Y136D probably damaging Het
Other mutations in Gm20821
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1986:Gm20821 UTSW Y 9,783,927 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AGGTGCCATTCTTACAGGAC -3'
(R):5'- AGGTTGTCAAAGACCCATAGG -3'

Sequencing Primer
(F):5'- ATTTCCTACAAGAAGGATCCGGTC -3'
(R):5'- GACACCAGAGTATAGACATAG -3'
Posted On 2016-07-22