Incidental Mutation 'R6353:Uxs1'
| ID |
512274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uxs1
|
| Ensembl Gene |
ENSMUSG00000057363 |
| Gene Name |
UDP-glucuronate decarboxylase 1 |
| Synonyms |
1600025I13Rik |
| MMRRC Submission |
044505-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
43786126-43866960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43836410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 122
(I122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076997]
[ENSMUST00000126008]
[ENSMUST00000128261]
[ENSMUST00000136704]
[ENSMUST00000139451]
[ENSMUST00000153317]
|
| AlphaFold |
Q91XL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076997
AA Change: I91V
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076259
Gene: ENSMUSG00000057363
AA Change: I91V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UXS1_N
|
1 |
78 |
5.2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126008
AA Change: I91V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: I91V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UXS1_N
|
4 |
78 |
2.3e-40 |
PFAM |
|
Pfam:RmlD_sub_bind
|
89 |
370 |
1.1e-11 |
PFAM |
|
Pfam:Polysacc_synt_2
|
91 |
207 |
2.7e-6 |
PFAM |
|
Pfam:Epimerase
|
91 |
324 |
9.8e-52 |
PFAM |
|
Pfam:3Beta_HSD
|
92 |
305 |
1.8e-9 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
92 |
387 |
1.3e-58 |
PFAM |
|
Pfam:NAD_binding_4
|
129 |
297 |
4.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128261
AA Change: I122V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116719
Gene: ENSMUSG00000057363
AA Change: I122V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UXS1_N
|
1 |
77 |
3.3e-38 |
PFAM |
|
transmembrane domain
|
79 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136704
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139451
AA Change: I96V
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363
AA Change: I96V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UXS1_N
|
1 |
83 |
4.4e-38 |
PFAM |
|
Pfam:RmlD_sub_bind
|
94 |
254 |
2.6e-9 |
PFAM |
|
Pfam:Polysacc_synt_2
|
96 |
211 |
1.2e-6 |
PFAM |
|
Pfam:Epimerase
|
96 |
254 |
2.9e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
97 |
251 |
2.5e-9 |
PFAM |
|
Pfam:NAD_binding_4
|
125 |
254 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153317
|
| SMART Domains |
Protein: ENSMUSP00000144114
Gene: ENSMUSG00000057363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
14 |
110 |
1.2e-13 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
22 |
110 |
4.5e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele die prenatally. Heterozygous mice exhibit an increased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
| Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
| Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
| Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
| Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
| Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
| Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
probably benign |
Het |
|
| Other mutations in Uxs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Uxs1
|
APN |
1 |
43,796,173 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02210:Uxs1
|
APN |
1 |
43,789,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03203:Uxs1
|
APN |
1 |
43,846,504 (GRCm39) |
intron |
probably benign |
|
|
excess
|
UTSW |
1 |
43,804,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0505:Uxs1
|
UTSW |
1 |
43,804,046 (GRCm39) |
splice site |
probably null |
|
|
R1464:Uxs1
|
UTSW |
1 |
43,804,076 (GRCm39) |
nonsense |
probably null |
|
|
R1464:Uxs1
|
UTSW |
1 |
43,804,076 (GRCm39) |
nonsense |
probably null |
|
|
R1720:Uxs1
|
UTSW |
1 |
43,804,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Uxs1
|
UTSW |
1 |
43,804,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Uxs1
|
UTSW |
1 |
43,810,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Uxs1
|
UTSW |
1 |
43,814,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Uxs1
|
UTSW |
1 |
43,866,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4025:Uxs1
|
UTSW |
1 |
43,841,776 (GRCm39) |
intron |
probably benign |
|
|
R4210:Uxs1
|
UTSW |
1 |
43,789,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4722:Uxs1
|
UTSW |
1 |
43,814,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5321:Uxs1
|
UTSW |
1 |
43,844,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5527:Uxs1
|
UTSW |
1 |
43,819,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Uxs1
|
UTSW |
1 |
43,819,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Uxs1
|
UTSW |
1 |
43,856,118 (GRCm39) |
intron |
probably benign |
|
|
R7235:Uxs1
|
UTSW |
1 |
43,804,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7474:Uxs1
|
UTSW |
1 |
43,796,184 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8190:Uxs1
|
UTSW |
1 |
43,810,911 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9248:Uxs1
|
UTSW |
1 |
43,804,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Uxs1
|
UTSW |
1 |
43,810,892 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGATTCCGTTTATCCCTAAC -3'
(R):5'- AGTTTGTCCACAGGATTCTGAG -3'
Sequencing Primer
(F):5'- CACATGGTAGCTATTGATGGCAC -3'
(R):5'- CACAGGATTCTGAGGAGTGCTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation