Incidental Mutation 'R6643:Xylb'
ID |
525946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xylb
|
Ensembl Gene |
ENSMUSG00000035769 |
Gene Name |
xylulokinase homolog (H. influenzae) |
Synonyms |
|
MMRRC Submission |
044764-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R6643 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119186447-119222863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119196559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 114
(H114R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039610]
[ENSMUST00000170400]
[ENSMUST00000215822]
[ENSMUST00000216838]
|
AlphaFold |
Q3TNA1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039610
AA Change: H114R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000047254 Gene: ENSMUSG00000035769 AA Change: H114R
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 |
probably benign
Transcript: ENSMUST00000170400
|
SMART Domains |
Protein: ENSMUSP00000131982 Gene: ENSMUSG00000070280
Domain | Start | End | E-Value | Type |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
150 |
555 |
1.2e-28 |
PFAM |
Pfam:MFS_1
|
178 |
514 |
7.6e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215822
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216838
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (39/39) |
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 |
Aadacl3 |
A |
G |
4: 144,183,644 (GRCm39) |
S140P |
probably damaging |
Het |
Atp5mc1 |
A |
C |
11: 95,964,854 (GRCm39) |
C17W |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,470 (GRCm39) |
S161P |
unknown |
Het |
Cntrob |
A |
G |
11: 69,202,248 (GRCm39) |
V448A |
possibly damaging |
Het |
Col22a1 |
T |
C |
15: 71,693,886 (GRCm39) |
|
probably null |
Het |
Col6a4 |
T |
C |
9: 105,877,830 (GRCm39) |
Y2049C |
probably damaging |
Het |
Cpn1 |
C |
T |
19: 43,948,472 (GRCm39) |
D395N |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,266,390 (GRCm39) |
T769A |
probably benign |
Het |
Cts6 |
T |
A |
13: 61,349,607 (GRCm39) |
H62L |
probably damaging |
Het |
Ddx42 |
G |
T |
11: 106,119,646 (GRCm39) |
V144F |
probably benign |
Het |
E130308A19Rik |
A |
G |
4: 59,720,561 (GRCm39) |
S698G |
possibly damaging |
Het |
Eif2b3 |
T |
C |
4: 116,927,954 (GRCm39) |
L391P |
probably damaging |
Het |
Gm1043 |
T |
C |
5: 37,330,895 (GRCm39) |
I525T |
probably benign |
Het |
Kifc1 |
C |
T |
17: 34,104,829 (GRCm39) |
G59S |
probably benign |
Het |
Lancl1 |
T |
C |
1: 67,043,542 (GRCm39) |
E360G |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,332,340 (GRCm39) |
L1679S |
probably benign |
Het |
Mroh9 |
T |
A |
1: 162,903,130 (GRCm39) |
D91V |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Ntsr1 |
T |
C |
2: 180,142,719 (GRCm39) |
I170T |
probably damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,911 (GRCm39) |
I77F |
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,776 (GRCm39) |
I273T |
probably benign |
Het |
Or6n2 |
T |
C |
1: 173,897,611 (GRCm39) |
L249P |
probably damaging |
Het |
Or6z5 |
G |
A |
7: 6,477,720 (GRCm39) |
D204N |
probably benign |
Het |
Pcolce |
T |
A |
5: 137,607,165 (GRCm39) |
T109S |
probably damaging |
Het |
Reg3b |
C |
A |
6: 78,349,905 (GRCm39) |
S148R |
possibly damaging |
Het |
Rps6ka4 |
A |
G |
19: 6,809,731 (GRCm39) |
S365P |
probably damaging |
Het |
Slc27a4 |
A |
G |
2: 29,702,860 (GRCm39) |
E563G |
probably benign |
Het |
Slc4a10 |
C |
T |
2: 62,059,054 (GRCm39) |
T187M |
possibly damaging |
Het |
Slc5a7 |
G |
T |
17: 54,583,644 (GRCm39) |
Q549K |
probably benign |
Het |
Stxbp3 |
A |
G |
3: 108,701,150 (GRCm39) |
L573P |
probably damaging |
Het |
Suco |
A |
T |
1: 161,687,001 (GRCm39) |
S120T |
possibly damaging |
Het |
Tnni2 |
G |
T |
7: 141,998,016 (GRCm39) |
G163V |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,923,262 (GRCm39) |
I201T |
possibly damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,945 (GRCm39) |
T263A |
probably benign |
Het |
Wdr1 |
A |
T |
5: 38,697,521 (GRCm39) |
D262E |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,343,667 (GRCm39) |
E682G |
possibly 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 |
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 |
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'- ACAGGGTGCAGTTCCTTCTC -3'
(R):5'- CTTCTCACACTGCAGAGAAGCC -3'
Sequencing Primer
(F):5'- CACAAAGACACTGAGTTATGTGAC -3'
(R):5'- CTGCAGAGAAGCCCCAGAG -3'
|
Posted On |
2018-06-22 |