Incidental Mutation 'R6581:Gm21103'
ID 523445
Institutional Source Beutler Lab
Gene Symbol Gm21103
Ensembl Gene ENSMUSG00000094811
Gene Name predicted gene, 21103
Synonyms
MMRRC Submission 044705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6581 (G1)
Quality Score 191.009
Status Not validated
Chromosome 14
Chromosomal Location 16164930-16173408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17484809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 78 (N78K)
Ref Sequence ENSEMBL: ENSMUSP00000131334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112737] [ENSMUST00000170923] [ENSMUST00000179042]
AlphaFold E9Q2Q1
Predicted Effect probably damaging
Transcript: ENSMUST00000112737
AA Change: N78K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108357
Gene: ENSMUSG00000094811
AA Change: N78K

DomainStartEndE-ValueType
Pfam:Takusan 46 129 2.1e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170923
AA Change: N78K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131334
Gene: ENSMUSG00000094811
AA Change: N78K

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.2e-31 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179042
AA Change: N78K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137550
Gene: ENSMUSG00000094811
AA Change: N78K

DomainStartEndE-ValueType
Pfam:Takusan 46 129 9.2e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 G A 10: 21,256,741 (GRCm39) V51M probably damaging Het
Cdh17 A T 4: 11,799,615 (GRCm39) I471F probably damaging Het
Dnajb7 T A 15: 81,292,226 (GRCm39) E37V probably damaging Het
Dpy19l1 T A 9: 24,359,160 (GRCm39) I337F possibly damaging Het
Etv5 C T 16: 22,258,449 (GRCm39) probably benign Het
Gbp2b T A 3: 142,313,999 (GRCm39) Y426* probably null Het
Helz2 A G 2: 180,871,172 (GRCm39) V2755A probably damaging Het
Itga9 A T 9: 118,487,632 (GRCm39) E238D probably benign Het
Itgb8 A T 12: 119,126,950 (GRCm39) C736S probably benign Het
Luzp1 A G 4: 136,267,942 (GRCm39) E55G probably damaging Het
Mrtfa A G 15: 80,900,574 (GRCm39) L589P probably damaging Het
Ms4a4d G A 19: 11,532,204 (GRCm39) V117M probably damaging Het
Odad2 C T 18: 7,129,560 (GRCm39) V873I possibly damaging Het
Or2f1 T C 6: 42,721,013 (GRCm39) L14P probably damaging Het
Or3a1d A G 11: 74,238,032 (GRCm39) F126S probably damaging Het
Or52a5b T C 7: 103,417,428 (GRCm39) I59V probably benign Het
Prl7a1 A T 13: 27,817,612 (GRCm39) D217E probably damaging Het
Slc12a5 T C 2: 164,829,035 (GRCm39) F525S probably damaging Het
Smyd5 G A 6: 85,409,005 (GRCm39) D7N probably damaging Het
Spata18 G T 5: 73,826,859 (GRCm39) R152L probably benign Het
Thbd A G 2: 148,248,192 (GRCm39) S559P probably benign Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Tnpo2 C A 8: 85,782,033 (GRCm39) P874Q probably damaging Het
Uchl4 A T 9: 64,143,075 (GRCm39) E185D possibly damaging Het
Vmn1r158 G A 7: 22,489,465 (GRCm39) T248I possibly damaging Het
Vmn1r5 T C 6: 56,962,366 (GRCm39) F14L probably benign Het
Yaf2 T C 15: 93,184,295 (GRCm39) T101A probably benign 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
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
R8083:Gm21103 UTSW 14 17,482,895 (GRCm39) missense possibly damaging 0.74
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'- AGATTGCAAGCACCCCAAGG -3'
(R):5'- ACTCAGAATGGTCTCCCCTC -3'

Sequencing Primer
(F):5'- AATTAAACACCTGTCAGGGCTAC -3'
(R):5'- CTCCTGGCCCATCAAGTATG -3'
Posted On 2018-06-22