Incidental Mutation 'IGL02088:Slc35d1'
| ID |
279328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35d1
|
| Ensembl Gene |
ENSMUSG00000028521 |
| Gene Name |
solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 |
| Synonyms |
UGTREL7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
103027846-103072361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103068522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 148
(F148L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036195]
[ENSMUST00000150285]
[ENSMUST00000183432]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036195
AA Change: F127L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: F127L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
18 |
307 |
6.4e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094947
|
| SMART Domains |
Protein: ENSMUSP00000092554
Gene: ENSMUSG00000028521
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
58 |
N/A |
INTRINSIC |
|
transmembrane domain
|
107 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
128 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150285
AA Change: F148L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: F148L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
158 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
217 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
259 |
281 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183432
AA Change: F127L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: F127L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
167 |
184 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality and chondrodystrophy associated with impaired chondroitin sulfate biosynthesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
C |
9: 103,976,080 (GRCm39) |
E289G |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,669 (GRCm39) |
I637V |
probably benign |
Het |
| Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
| Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
| Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
| Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
| Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
| H1f7 |
G |
T |
15: 98,155,059 (GRCm39) |
T30K |
probably damaging |
Het |
| Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
| Itfg2 |
A |
G |
6: 128,388,569 (GRCm39) |
V306A |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,775,362 (GRCm39) |
|
noncoding transcript |
Het |
| Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
| Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,415 (GRCm39) |
L285P |
probably damaging |
Het |
| Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
| Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
| Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc35d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03198:Slc35d1
|
APN |
4 |
103,042,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Slc35d1
|
UTSW |
4 |
103,065,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0131:Slc35d1
|
UTSW |
4 |
103,065,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0132:Slc35d1
|
UTSW |
4 |
103,065,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0206:Slc35d1
|
UTSW |
4 |
103,065,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Slc35d1
|
UTSW |
4 |
103,065,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Slc35d1
|
UTSW |
4 |
103,065,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Slc35d1
|
UTSW |
4 |
103,048,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0346:Slc35d1
|
UTSW |
4 |
103,048,044 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0388:Slc35d1
|
UTSW |
4 |
103,042,084 (GRCm39) |
nonsense |
probably null |
|
|
R0638:Slc35d1
|
UTSW |
4 |
103,070,441 (GRCm39) |
splice site |
probably benign |
|
|
R2146:Slc35d1
|
UTSW |
4 |
103,062,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3722:Slc35d1
|
UTSW |
4 |
103,065,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4649:Slc35d1
|
UTSW |
4 |
103,070,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Slc35d1
|
UTSW |
4 |
103,071,978 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5327:Slc35d1
|
UTSW |
4 |
103,070,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5351:Slc35d1
|
UTSW |
4 |
103,047,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Slc35d1
|
UTSW |
4 |
103,068,572 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6263:Slc35d1
|
UTSW |
4 |
103,065,365 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6470:Slc35d1
|
UTSW |
4 |
103,047,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Slc35d1
|
UTSW |
4 |
103,070,243 (GRCm39) |
splice site |
probably null |
|
|
R7388:Slc35d1
|
UTSW |
4 |
103,046,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7580:Slc35d1
|
UTSW |
4 |
103,065,330 (GRCm39) |
missense |
|
|
|
R7729:Slc35d1
|
UTSW |
4 |
103,072,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7942:Slc35d1
|
UTSW |
4 |
103,070,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8408:Slc35d1
|
UTSW |
4 |
103,047,007 (GRCm39) |
missense |
|
|
|
R8444:Slc35d1
|
UTSW |
4 |
103,071,896 (GRCm39) |
missense |
|
|
|
R8692:Slc35d1
|
UTSW |
4 |
103,047,051 (GRCm39) |
missense |
|
|
|
R8730:Slc35d1
|
UTSW |
4 |
103,030,951 (GRCm39) |
missense |
|
|
|
R8868:Slc35d1
|
UTSW |
4 |
103,065,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Slc35d1
|
UTSW |
4 |
103,068,529 (GRCm39) |
missense |
|
|
|
R9251:Slc35d1
|
UTSW |
4 |
103,048,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9357:Slc35d1
|
UTSW |
4 |
103,065,333 (GRCm39) |
missense |
|
|
|
R9789:Slc35d1
|
UTSW |
4 |
103,071,946 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation