Incidental Mutation 'R3884:Xylb'
| ID |
310596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xylb
|
| Ensembl Gene |
ENSMUSG00000035769 |
| Gene Name |
xylulokinase homolog (H. influenzae) |
| Synonyms |
|
| MMRRC Submission |
040797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R3884 (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 119209753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 346
(M346T)
|
| 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: M346T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: M346T
| 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: 97.6%
- 20x: 95.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
A |
15: 98,495,055 (GRCm39) |
S719F |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,224,727 (GRCm39) |
V998A |
probably damaging |
Het |
| Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,824 (GRCm39) |
E820G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,677 (GRCm39) |
D71V |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
| Cnot7 |
A |
T |
8: 40,963,171 (GRCm39) |
M1K |
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
| Depdc5 |
G |
A |
5: 33,101,421 (GRCm39) |
E904K |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,601,894 (GRCm39) |
L284F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
| Gabra4 |
T |
C |
5: 71,814,600 (GRCm39) |
D40G |
probably benign |
Het |
| Gm9925 |
T |
C |
18: 74,198,399 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
A |
17: 12,928,355 (GRCm39) |
Q996L |
probably benign |
Het |
| Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
| Lin9 |
G |
T |
1: 180,515,630 (GRCm39) |
G427* |
probably null |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Lyg2 |
C |
G |
1: 37,949,150 (GRCm39) |
A71P |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
| Myl3 |
A |
G |
9: 110,597,027 (GRCm39) |
H129R |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,580,702 (GRCm39) |
K604R |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,632,359 (GRCm39) |
P398S |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,241,885 (GRCm39) |
V309A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,110 (GRCm39) |
Q25L |
possibly damaging |
Het |
| Or6c210 |
T |
C |
10: 129,496,407 (GRCm39) |
V244A |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,787 (GRCm39) |
Y301C |
probably damaging |
Het |
| Parl |
A |
T |
16: 20,101,762 (GRCm39) |
M90K |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,746,549 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
C |
A |
7: 16,587,180 (GRCm39) |
S375R |
probably benign |
Het |
| Prss44 |
T |
C |
9: 110,643,764 (GRCm39) |
I136T |
possibly damaging |
Het |
| Rock1 |
G |
A |
18: 10,122,768 (GRCm39) |
T351I |
probably damaging |
Het |
| Selenon |
T |
C |
4: 134,267,081 (GRCm39) |
N507S |
possibly damaging |
Het |
| Slc38a7 |
C |
T |
8: 96,572,809 (GRCm39) |
G141R |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,705 (GRCm39) |
N27486I |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,191,886 (GRCm39) |
F306L |
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 |
|
R2322:Xylb
|
UTSW |
9 |
119,217,813 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- AGGGTCAGCAGTTATCACTTACAG -3'
(R):5'- TTTGGCTCTTCCCCAGATGG -3'
Sequencing Primer
(F):5'- GCAGTTATCACTTACAGTATGAGGG -3'
(R):5'- CCCAGATGGTTCTGCTGTCAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation