Incidental Mutation 'R4545:Gm11808'
ID 333706
Institutional Source Beutler Lab
Gene Symbol Gm11808
Ensembl Gene ENSMUSG00000068240
Gene Name predicted gene 11808
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock # R4545 (G1)
Quality Score 217
Status Not validated
Chromosome 4
Chromosomal Location 3973092-3973595 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3973244 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 106 (R106H)
Ref Sequence ENSEMBL: ENSMUSP00000086852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089430]
AlphaFold P62984
Predicted Effect probably benign
Transcript: ENSMUST00000089430
AA Change: R106H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086852
Gene: ENSMUSG00000068240
AA Change: R106H

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_L40e 77 128 4.5e-33 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A C 13: 4,507,844 V201G probably damaging Het
Atf7 A G 15: 102,534,327 V449A probably benign Het
Ccr1 G A 9: 123,964,400 A31V probably benign Het
Chrna6 A T 8: 27,406,683 S389T probably benign Het
Clic6 C T 16: 92,492,157 probably benign Het
Cmya5 G A 13: 93,091,918 R2221* probably null Het
Coq8b G T 7: 27,233,505 C13F probably benign Het
Cspg4 T A 9: 56,888,629 L1216Q possibly damaging Het
Decr1 C A 4: 15,930,979 V118F probably damaging Het
Dlec1 A T 9: 119,128,078 I796F probably damaging Het
Dnajc11 T A 4: 151,979,941 D516E probably damaging Het
Dock8 G A 19: 25,188,358 V1869M probably damaging Het
Dst A G 1: 34,188,738 D1982G probably damaging Het
Gnptab G A 10: 88,414,595 D190N probably benign Het
Golga4 A G 9: 118,556,845 K22E probably damaging Het
Hecw2 T C 1: 53,813,222 *1579W probably null Het
Ica1l A G 1: 60,013,818 probably null Het
Ift122 T A 6: 115,890,588 L433Q probably damaging Het
Iqgap1 T C 7: 80,762,567 probably null Het
Klra13-ps T C 6: 130,291,269 noncoding transcript Het
Mndal A T 1: 173,875,664 Y58* probably null Het
Mvb12b G C 2: 33,827,700 P172R possibly damaging Het
Ncapg T C 5: 45,671,212 F102L probably damaging Het
Olfr1447 T A 19: 12,901,268 K171* probably null Het
Olfr235 T C 19: 12,268,824 V198A possibly damaging Het
Olfr390 T C 11: 73,787,166 V76A probably damaging Het
Pde8a A T 7: 81,328,099 R713S probably damaging Het
Rbks T C 5: 31,624,568 N296S probably benign Het
Sema3c G A 5: 17,694,772 V421I probably benign Het
Tm9sf1 A G 14: 55,638,108 V393A possibly damaging Het
Tubgcp2 G A 7: 139,996,071 P893L possibly damaging Het
Vnn3 G A 10: 23,856,326 R158H probably benign Het
Zfa-ps G T 10: 52,544,936 noncoding transcript Het
Zfp414 T C 17: 33,631,648 probably benign Het
Zfp810 G A 9: 22,278,745 T289I probably damaging Het
Zfp819 G T 7: 43,617,785 R488L probably damaging Het
Zfp942 C T 17: 21,928,304 G448D probably benign Het
Zscan12 A G 13: 21,366,705 K165E possibly damaging Het
Other mutations in Gm11808
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4544:Gm11808 UTSW 4 3973244 missense probably benign
R6722:Gm11808 UTSW 4 3973386 missense probably benign 0.19
R8198:Gm11808 UTSW 4 3973346 missense probably benign 0.01
Z1177:Gm11808 UTSW 4 3973193 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAACTGCCATTCACCAGGC -3'
(R):5'- GATATTCGCGGGCAAACAGC -3'

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