Incidental Mutation 'R1127:Xylb'
ID 96315
Institutional Source Beutler Lab
Gene Symbol Xylb
Ensembl Gene ENSMUSG00000035769
Gene Name xylulokinase homolog (H. influenzae)
Synonyms
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R1127 (G1)
Quality Score 177
Status Not validated
Chromosome 9
Chromosomal Location 119186447-119222863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119212443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 427 (I427T)
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: I427T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: I427T

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: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A 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
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
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'- AGACTTGGACACTCAGTCCCTCAC -3'
(R):5'- TGCTCTCTAAGGCACCTCAGTTGC -3'

Sequencing Primer
(F):5'- Tacacacacacacacacacac -3'
(R):5'- TAAGGCACCTCAGTTGCTTTCTC -3'
Posted On 2014-01-05