Incidental Mutation 'R4539:Gm11554'
ID 333464
Institutional Source Beutler Lab
Gene Symbol Gm11554
Ensembl Gene ENSMUSG00000078259
Gene Name predicted gene 11554
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # R4539 (G1)
Quality Score 132
Status Not validated
Chromosome 11
Chromosomal Location 99694496-99695272 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 99695186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050106] [ENSMUST00000105056]
AlphaFold B1AQB2
Predicted Effect probably benign
Transcript: ENSMUST00000050106
SMART Domains Protein: ENSMUSP00000053810
Gene: ENSMUSG00000048294

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 43 1.3e-9 PFAM
Pfam:Keratin_B2 1 80 7.3e-10 PFAM
Pfam:Keratin_B2_2 14 58 6.4e-14 PFAM
Pfam:Keratin_B2_2 24 68 7.8e-15 PFAM
Pfam:Keratin_B2_2 39 83 9.1e-15 PFAM
Pfam:Keratin_B2_2 54 98 1.3e-14 PFAM
Pfam:Keratin_B2_2 64 107 1.1e-14 PFAM
Pfam:Keratin_B2_2 99 143 1.3e-12 PFAM
Pfam:Keratin_B2_2 124 165 5.3e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000105056
AA Change: V9D
SMART Domains Protein: ENSMUSP00000100677
Gene: ENSMUSG00000078259
AA Change: V9D

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 52 7.4e-9 PFAM
Pfam:Keratin_B2 1 122 3.8e-11 PFAM
Pfam:Keratin_B2_2 34 78 8.9e-14 PFAM
Pfam:Keratin_B2_2 74 117 2.5e-12 PFAM
Pfam:Keratin_B2_2 109 157 2.5e-7 PFAM
Pfam:Keratin_B2_2 149 190 5.8e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,793 (GRCm39) T702A probably benign Het
Alms1 C T 6: 85,597,460 (GRCm39) T762I possibly damaging Het
Arhgef18 T C 8: 3,497,070 (GRCm39) M465T probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Camta1 T C 4: 151,169,269 (GRCm39) I161V probably benign Het
Cpeb4 G A 11: 31,823,206 (GRCm39) G307S probably damaging Het
Eps8l1 T C 7: 4,481,623 (GRCm39) V707A probably damaging Het
Espn G A 4: 152,218,665 (GRCm39) Q473* probably null Het
Fut9 A T 4: 25,619,793 (GRCm39) H340Q probably damaging Het
Hcar2 A G 5: 124,002,793 (GRCm39) F237L probably damaging Het
Hectd4 T A 5: 121,452,970 (GRCm39) C492* probably null Het
Lrrk2 C T 15: 91,613,345 (GRCm39) P823L possibly damaging Het
Luzp2 A T 7: 54,713,037 (GRCm39) Q91L probably damaging Het
Mapkapk5 T A 5: 121,675,218 (GRCm39) H117L possibly damaging Het
Myh14 A G 7: 44,276,478 (GRCm39) L1209P probably damaging Het
Myo3b T G 2: 69,869,491 (GRCm39) M1R probably null Het
Nacad A T 11: 6,550,677 (GRCm39) V838E possibly damaging Het
Neurl1a T A 19: 47,245,183 (GRCm39) S458T probably damaging Het
Pdzrn4 A G 15: 92,668,470 (GRCm39) D874G probably damaging Het
Phykpl A G 11: 51,484,915 (GRCm39) T292A probably damaging Het
Piezo2 A G 18: 63,219,699 (GRCm39) Y1003H probably damaging Het
Ppih A G 4: 119,177,656 (GRCm39) S6P probably benign Het
Qrich1 A G 9: 108,411,399 (GRCm39) E308G probably damaging Het
Setx A G 2: 29,069,760 (GRCm39) T2522A probably benign Het
Slc26a8 A T 17: 28,878,591 (GRCm39) M332K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sphkap A G 1: 83,255,514 (GRCm39) V745A probably benign Het
Swi5 T C 2: 32,169,092 (GRCm39) N118S possibly damaging Het
Tenm2 T C 11: 35,937,607 (GRCm39) T1689A probably damaging Het
Ttll9 C T 2: 152,836,011 (GRCm39) R252C probably damaging Het
Vars2 T A 17: 35,977,780 (GRCm39) E80V probably damaging Het
Zbtb39 G A 10: 127,578,061 (GRCm39) D212N possibly damaging Het
Zfp418 C A 7: 7,184,276 (GRCm39) Q80K probably benign Het
Zscan25 A G 5: 145,225,201 (GRCm39) D259G probably benign Het
Other mutations in Gm11554
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02454:Gm11554 APN 11 99,694,815 (GRCm39) missense unknown
R7393:Gm11554 UTSW 11 99,694,698 (GRCm39) missense unknown
R7398:Gm11554 UTSW 11 99,695,085 (GRCm39) missense unknown
R7470:Gm11554 UTSW 11 99,695,190 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGGAAATGCAGCAGCTAGG -3'
(R):5'- TCCATAAGACACTGAGCAGATCAAG -3'

Sequencing Primer
(F):5'- CAGCAGCTAGGACGGCAAC -3'
(R):5'- TTAGCTAGGAAATGAAACATGCC -3'
Posted On 2015-08-18