Incidental Mutation 'R2322:Xylb'
ID 244781
Institutional Source Beutler Lab
Gene Symbol Xylb
Ensembl Gene ENSMUSG00000035769
Gene Name xylulokinase homolog (H. influenzae)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R2322 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119186447-119222863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119217813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 488 (S488P)
Ref Sequence ENSEMBL: ENSMUSP00000047254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039610] [ENSMUST00000215822] [ENSMUST00000216838]
AlphaFold Q3TNA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000039610
AA Change: S488P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: S488P

DomainStartEndE-ValueType
low complexity region 123 142 N/A INTRINSIC
Pfam:FGGY_N 144 302 3.9e-15 PFAM
Pfam:FGGY_C 310 496 2.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213383
Predicted Effect probably benign
Transcript: ENSMUST00000215822
Predicted Effect probably benign
Transcript: ENSMUST00000216838
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
AY358078 A G 14: 52,042,147 (GRCm39) Y174C unknown Het
Bod1l A T 5: 41,984,463 (GRCm39) V529E probably benign Het
Brinp3 A G 1: 146,577,492 (GRCm39) T176A probably benign Het
Ccn2 T C 10: 24,472,732 (GRCm39) M214T probably damaging Het
Cfap57 T A 4: 118,467,922 (GRCm39) I272L probably benign Het
Cnr1 A G 4: 33,944,514 (GRCm39) K301E probably damaging Het
Elavl1 A T 8: 4,339,802 (GRCm39) L260H probably damaging Het
Ercc6 A G 14: 32,248,274 (GRCm39) Y275C probably damaging Het
Fndc1 A G 17: 8,007,847 (GRCm39) S96P probably damaging Het
Hykk G A 9: 54,853,418 (GRCm39) G247S probably benign Het
Ky T C 9: 102,414,990 (GRCm39) probably null Het
Mcu A C 10: 59,290,766 (GRCm39) probably null Het
Or2y17 T G 11: 49,231,476 (GRCm39) L39R probably damaging Het
Or5w11 T C 2: 87,459,118 (GRCm39) C104R possibly damaging Het
Ppp4r3a C T 12: 101,008,878 (GRCm39) R667Q probably damaging Het
Ptprj T C 2: 90,301,473 (GRCm39) T220A probably benign Het
St18 T A 1: 6,914,348 (GRCm39) C766* probably null Het
St8sia4 C T 1: 95,581,463 (GRCm39) R93H probably damaging Het
Tcim G C 8: 24,928,726 (GRCm39) R63G probably damaging Het
Zhx3 T C 2: 160,623,948 (GRCm39) D73G probably damaging Het
Other mutations in Xylb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Xylb APN 9 119,219,549 (GRCm39) nonsense probably null
R0330:Xylb UTSW 9 119,210,653 (GRCm39) missense probably damaging 0.98
R0959:Xylb UTSW 9 119,209,091 (GRCm39) missense possibly damaging 0.85
R1127:Xylb UTSW 9 119,212,443 (GRCm39) missense probably damaging 0.99
R1401:Xylb UTSW 9 119,197,133 (GRCm39) splice site probably benign
R1417:Xylb UTSW 9 119,193,606 (GRCm39) missense probably benign 0.04
R2315:Xylb UTSW 9 119,188,335 (GRCm39) missense probably benign 0.22
R3884:Xylb UTSW 9 119,209,753 (GRCm39) missense probably damaging 1.00
R4367:Xylb UTSW 9 119,217,781 (GRCm39) missense probably benign 0.10
R4463:Xylb UTSW 9 119,215,433 (GRCm39) missense probably benign 0.00
R4750:Xylb UTSW 9 119,188,379 (GRCm39) nonsense probably null
R5181:Xylb UTSW 9 119,193,567 (GRCm39) missense probably damaging 1.00
R5568:Xylb UTSW 9 119,190,198 (GRCm39) missense probably benign 0.43
R6104:Xylb UTSW 9 119,193,573 (GRCm39) makesense probably null
R6171:Xylb UTSW 9 119,210,657 (GRCm39) missense probably damaging 1.00
R6642:Xylb UTSW 9 119,196,559 (GRCm39) missense probably damaging 1.00
R6643:Xylb UTSW 9 119,196,559 (GRCm39) missense probably damaging 1.00
R6836:Xylb UTSW 9 119,220,820 (GRCm39) missense probably damaging 1.00
R7121:Xylb UTSW 9 119,211,358 (GRCm39) missense probably benign 0.00
R7496:Xylb UTSW 9 119,220,882 (GRCm39) makesense probably null
R7776:Xylb UTSW 9 119,209,766 (GRCm39) critical splice donor site probably null
R7908:Xylb UTSW 9 119,210,611 (GRCm39) missense probably benign 0.00
R8025:Xylb UTSW 9 119,210,569 (GRCm39) missense probably damaging 0.99
R9420:Xylb UTSW 9 119,215,428 (GRCm39) missense probably damaging 1.00
R9616:Xylb UTSW 9 119,201,022 (GRCm39) missense probably damaging 1.00
Z1088:Xylb UTSW 9 119,210,680 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GAGACTGTAGCCCTTCTCTAGG -3'
(R):5'- ACAGGGGCTCATTCTTGCTG -3'

Sequencing Primer
(F):5'- AGCTCCACGTGCTTTGG -3'
(R):5'- GTGCTTAAACACCCGTGA -3'
Posted On 2014-10-30