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)
|
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |