Incidental Mutation 'R6836:Xylb'
ID 534574
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 # R6836 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119186447-119222863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119220820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 531 (L531H)
Ref Sequence ENSEMBL: ENSMUSP00000047254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039610] [ENSMUST00000215822] [ENSMUST00000216838]
AlphaFold Q3TNA1
Predicted Effect probably damaging
Transcript: ENSMUST00000039610
AA Change: L531H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: L531H

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 probably benign
Transcript: ENSMUST00000215822
Predicted Effect probably benign
Transcript: ENSMUST00000216838
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,971,718 (GRCm39) M1T probably null Het
Aim2 C G 1: 173,291,546 (GRCm39) T317R probably damaging Het
Alox8 T C 11: 69,077,331 (GRCm39) Y473C probably damaging Het
Alox8 T C 11: 69,080,715 (GRCm39) R209G possibly damaging Het
Asb5 A G 8: 55,038,106 (GRCm39) M210V probably benign Het
Atp2c2 T A 8: 120,461,154 (GRCm39) L249Q probably damaging Het
AU018091 T G 7: 3,213,986 (GRCm39) D77A probably damaging Het
Bahcc1 A T 11: 120,162,583 (GRCm39) K294* probably null Het
Baz2b C T 2: 59,747,769 (GRCm39) R1298Q probably damaging Het
Bivm T A 1: 44,182,296 (GRCm39) N501K possibly damaging Het
Bpifb5 T A 2: 154,069,985 (GRCm39) I145N probably benign Het
Casq2 A T 3: 101,994,076 (GRCm39) N41I probably damaging Het
Ccdc18 T C 5: 108,345,833 (GRCm39) L993P probably damaging Het
Cdcp3 A T 7: 130,798,233 (GRCm39) I81F possibly damaging Het
Cfap44 A G 16: 44,224,442 (GRCm39) D50G probably damaging Het
Clca3a2 T A 3: 144,512,144 (GRCm39) I91F probably damaging Het
Crebbp T A 16: 3,997,886 (GRCm39) H66L possibly damaging Het
Cyfip2 T C 11: 46,163,467 (GRCm39) T321A probably benign Het
Dido1 A G 2: 180,304,100 (GRCm39) V1268A probably benign Het
E030030I06Rik A C 10: 22,024,391 (GRCm39) V174G probably damaging Het
Gm20730 G T 6: 43,058,767 (GRCm39) probably null Het
Gm36176 T C 10: 77,682,976 (GRCm39) probably benign Het
Gper1 T A 5: 139,412,435 (GRCm39) M260K probably damaging Het
Igfbp2 T C 1: 72,888,817 (GRCm39) L89P probably damaging Het
Katnal1 T C 5: 148,830,974 (GRCm39) N200S probably damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Klhl20 T A 1: 160,932,976 (GRCm39) E277D probably benign Het
Lingo1 T C 9: 56,527,056 (GRCm39) Y517C probably damaging Het
Lrrk1 C T 7: 65,992,527 (GRCm39) E82K probably benign Het
Mtor T A 4: 148,573,955 (GRCm39) V1275D possibly damaging Het
Ncan C T 8: 70,552,965 (GRCm39) S1089N possibly damaging Het
Notch4 C T 17: 34,805,074 (GRCm39) T1643I probably damaging Het
Or13a25 A C 7: 140,248,093 (GRCm39) I298L possibly damaging Het
Or1i2 A G 10: 78,448,424 (GRCm39) L17P probably damaging Het
Or2y15 A T 11: 49,350,904 (GRCm39) T133S possibly damaging Het
Or4c10 T C 2: 89,760,683 (GRCm39) C177R probably damaging Het
Pcdhgb6 T C 18: 37,876,015 (GRCm39) V241A probably benign Het
Phf11b T A 14: 59,565,572 (GRCm39) T102S possibly damaging Het
Pkd1 T A 17: 24,800,233 (GRCm39) V2998E probably damaging Het
Ppp1r13b T C 12: 111,801,629 (GRCm39) S352G probably benign Het
Ptprh C T 7: 4,554,134 (GRCm39) V778M probably damaging Het
Ptprz1 C T 6: 23,030,664 (GRCm39) Q1008* probably null Het
Ralgapa1 A T 12: 55,651,058 (GRCm39) probably null Het
Rbm20 G A 19: 53,802,500 (GRCm39) G336E probably damaging Het
Sdsl T C 5: 120,600,167 (GRCm39) I77V probably benign Het
Serpina3b G A 12: 104,100,341 (GRCm39) E308K probably benign Het
Sfrp5 G A 19: 42,190,149 (GRCm39) T101I probably damaging Het
Slc2a13 C T 15: 91,205,835 (GRCm39) V451I probably benign Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spg11 C T 2: 121,890,016 (GRCm39) A2109T probably damaging Het
Stard9 C T 2: 120,530,324 (GRCm39) R2194C probably benign Het
Tfeb T C 17: 48,097,123 (GRCm39) probably null Het
Tiam2 T A 17: 3,464,655 (GRCm39) I128N probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tpr T G 1: 150,312,424 (GRCm39) probably null Het
Traf3ip1 T C 1: 91,448,722 (GRCm39) I456T probably benign Het
Ttll4 T A 1: 74,728,572 (GRCm39) D892E probably damaging Het
Ubr1 T A 2: 120,727,156 (GRCm39) probably null Het
Vmn2r74 T A 7: 85,606,630 (GRCm39) I239F probably benign Het
Wdfy3 C T 5: 102,100,865 (GRCm39) V251M probably damaging Het
Zfp960 T A 17: 17,308,434 (GRCm39) C383S 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
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
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'- GAGTTACAGACCATAAAGAGTCACC -3'
(R):5'- AGTCATGGCTTCAGGATGGTC -3'

Sequencing Primer
(F):5'- TGGGTACTGGAACTCAAGCCTG -3'
(R):5'- CTTCAGGATGGTCCAGGACAG -3'
Posted On 2018-09-12