Incidental Mutation 'R4367:Xylb'
ID 325816
Institutional Source Beutler Lab
Gene Symbol Xylb
Ensembl Gene ENSMUSG00000035769
Gene Name xylulokinase homolog (H. influenzae)
Synonyms
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119186447-119222863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119217781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 477 (V477A)
Ref Sequence ENSEMBL: ENSMUSP00000047254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039610] [ENSMUST00000215822] [ENSMUST00000216838]
AlphaFold Q3TNA1
Predicted Effect probably benign
Transcript: ENSMUST00000039610
AA Change: V477A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: V477A

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
Meta Mutation Damage Score 0.1526 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G 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
R2322:Xylb UTSW 9 119,217,813 (GRCm39) missense possibly damaging 0.95
R3884:Xylb UTSW 9 119,209,753 (GRCm39) missense probably damaging 1.00
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'- AAAAGGTCTAGAGTCAGCCTGG -3'
(R):5'- TGTGGTGTCCTTCAACAGG -3'

Sequencing Primer
(F):5'- TCTAGAGTCAGCCTGGAGACTG -3'
(R):5'- GCTTAAACACCCGTGAGA -3'
Posted On 2015-07-06