Incidental Mutation 'R2315:Xylb'
| ID |
245462 |
| 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: 0.116)
|
| Stock # |
R2315 (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 119188335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 47
(F47S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039610]
[ENSMUST00000170400]
[ENSMUST00000215822]
[ENSMUST00000216838]
|
| AlphaFold |
Q3TNA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039610
AA Change: F47S
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047254
Gene: ENSMUSG00000035769
AA Change: F47S
| 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 |
noncoding transcript
Transcript: ENSMUST00000215305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215822
AA Change: F47S
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216838
AA Change: F47S
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,015 (GRCm39) |
Y777H |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gm13941 |
A |
G |
2: 110,935,162 (GRCm39) |
S23P |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Myl3 |
T |
C |
9: 110,595,809 (GRCm39) |
L102P |
probably damaging |
Het |
| Pag1 |
C |
T |
3: 9,764,824 (GRCm39) |
V110I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,627 (GRCm39) |
I316F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,067 (GRCm39) |
D532G |
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 |
|
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'- TGCTATGGTTACAATGATGCCC -3'
(R):5'- TGCCTGGCACAAAACAGATCTC -3'
Sequencing Primer
(F):5'- GGTTACAATGATGCCCATTTAAAAC -3'
(R):5'- CAGAGGAACTGGGTTCAATTTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation