Incidental Mutation 'R8083:Gm21103'
ID 629475
Institutional Source Beutler Lab
Gene Symbol Gm21103
Ensembl Gene ENSMUSG00000094811
Gene Name predicted gene, 21103
Synonyms
MMRRC Submission 067516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R8083 (G1)
Quality Score 135.008
Status Not validated
Chromosome 14
Chromosomal Location 16164930-16173408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17482895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 169 (V169M)
Ref Sequence ENSEMBL: ENSMUSP00000131334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112737] [ENSMUST00000170923] [ENSMUST00000179042]
AlphaFold E9Q2Q1
Predicted Effect probably benign
Transcript: ENSMUST00000112737
AA Change: V169M

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108357
Gene: ENSMUSG00000094811
AA Change: V169M

DomainStartEndE-ValueType
Pfam:Takusan 46 129 2.1e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170923
AA Change: V169M

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131334
Gene: ENSMUSG00000094811
AA Change: V169M

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.2e-31 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179042
AA Change: V169M

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137550
Gene: ENSMUSG00000094811
AA Change: V169M

DomainStartEndE-ValueType
Pfam:Takusan 46 129 9.2e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,282,987 (GRCm39) E255G possibly damaging Het
Abcg5 A T 17: 84,965,971 (GRCm39) L635Q probably damaging Het
Acsl3 G A 1: 78,669,844 (GRCm39) D238N probably damaging Het
Adam32 A T 8: 25,362,752 (GRCm39) C558S probably damaging Het
Adamtsl4 C T 3: 95,591,711 (GRCm39) V126M possibly damaging Het
Apobec1 G A 6: 122,555,888 (GRCm39) P190S probably damaging Het
Arel1 A T 12: 84,987,136 (GRCm39) H93Q probably benign Het
Bpifa2 T G 2: 153,852,412 (GRCm39) V96G probably damaging Het
Cacna1s G A 1: 136,023,529 (GRCm39) V923I possibly damaging Het
Caprin2 A C 6: 148,744,346 (GRCm39) Y1026* probably null Het
Cdk8 T G 5: 146,205,100 (GRCm39) W34G probably damaging Het
Cdkn3 A T 14: 47,000,058 (GRCm39) Q28L probably benign Het
Cfap58 A G 19: 47,971,957 (GRCm39) E629G probably damaging Het
Chaf1b T A 16: 93,691,630 (GRCm39) C255S probably damaging Het
Clcn4 A G 7: 7,294,427 (GRCm39) F445L possibly damaging Het
Cpne6 A C 14: 55,750,698 (GRCm39) I140L probably benign Het
Cyp2b23 C A 7: 26,385,828 (GRCm39) A10S possibly damaging Het
Eci3 G T 13: 35,140,873 (GRCm39) T103K probably benign Het
Eri3 T A 4: 117,450,359 (GRCm39) M253K probably damaging Het
Gm6594 G A 17: 82,846,897 (GRCm39) A71T probably benign Het
Gns T C 10: 121,214,008 (GRCm39) S228P probably damaging Het
Hbegf A T 18: 36,648,224 (GRCm39) S46T probably benign Het
Hcn1 GCAACAACA GCAACAACAACA 13: 118,112,296 (GRCm39) probably benign Het
Mcf2l T A 8: 13,057,875 (GRCm39) probably null Het
Nfasc T C 1: 132,524,320 (GRCm39) D846G probably benign Het
Nt5dc2 A G 14: 30,856,783 (GRCm39) Y103C probably damaging Het
Osbpl9 C T 4: 108,943,572 (GRCm39) V147M possibly damaging Het
Pid1 T C 1: 84,015,970 (GRCm39) I146V probably benign Het
Rangap1 A G 15: 81,603,101 (GRCm39) I108T probably benign Het
Rbm12b1 T C 4: 12,146,409 (GRCm39) Y794H probably damaging Het
Rprd1b T C 2: 157,892,052 (GRCm39) S192P probably damaging Het
Sacs A T 14: 61,448,166 (GRCm39) D3404V possibly damaging Het
Setd5 G T 6: 113,091,971 (GRCm39) G264V probably damaging Het
Tagln2 A T 1: 172,332,766 (GRCm39) I18F possibly damaging Het
Tex51 T C 18: 32,591,807 (GRCm39) probably null Het
Ttc17 C A 2: 94,204,909 (GRCm39) V338F probably damaging Het
Xirp2 T A 2: 67,339,043 (GRCm39) M428K possibly damaging Het
Zfp503 A T 14: 22,036,132 (GRCm39) D261E probably damaging Het
Zfp784 T C 7: 5,038,905 (GRCm39) T218A possibly damaging Het
Zp3 A C 5: 136,013,376 (GRCm39) D236A probably damaging Het
Other mutations in Gm21103
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5531:Gm21103 UTSW 14 17,484,855 (GRCm39) missense probably damaging 1.00
R6260:Gm21103 UTSW 14 17,484,841 (GRCm39) missense probably damaging 1.00
R6581:Gm21103 UTSW 14 17,484,809 (GRCm39) missense probably damaging 1.00
R7108:Gm21103 UTSW 14 17,484,768 (GRCm39) missense probably damaging 1.00
R7141:Gm21103 UTSW 14 17,482,795 (GRCm39) missense probably damaging 0.99
R7259:Gm21103 UTSW 14 17,482,882 (GRCm39) missense probably damaging 0.98
R7412:Gm21103 UTSW 14 17,482,943 (GRCm39) missense probably benign 0.00
R8348:Gm21103 UTSW 14 17,482,861 (GRCm39) missense probably benign 0.07
R9225:Gm21103 UTSW 14 17,484,877 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GAGACATAGGTGAGTGCCTG -3'
(R):5'- AGACTCTTCTGGGACTGTCTGG -3'

Sequencing Primer
(F):5'- CCTGGAGAAGTTGGTGGAC -3'
(R):5'- TCCGTGAGTGCACTCAAA -3'
Posted On 2020-06-30