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: 0.116)
|
| 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 |
Incidental Mutation