Incidental Mutation 'R5351:Slc35d1'
| ID |
423792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35d1
|
| Ensembl Gene |
ENSMUSG00000028521 |
| Gene Name |
solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 |
| Synonyms |
UGTREL7 |
| MMRRC Submission |
042930-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
103027846-103072361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103047036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 254
(L254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036195]
[ENSMUST00000150285]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036195
AA Change: L254P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: L254P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
18 |
307 |
6.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150285
|
| SMART Domains |
Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
| Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
| Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
| Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
| Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
probably benign |
Het |
|
| Other mutations in Slc35d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Slc35d1
|
APN |
4 |
103,068,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACACCATCAGACTGGG -3'
(R):5'- CCCCTAGTCAGAAAAGAGATGCATG -3'
Sequencing Primer
(F):5'- GCAGGCAGCATGCTTACCAG -3'
(R):5'- CTCTTGAGTGCGGTTTCAGAAATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation