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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |