Incidental Mutation 'IGL01667:Slc35b4'
| ID |
103351 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35b4
|
| Ensembl Gene |
ENSMUSG00000018999 |
| Gene Name |
solute carrier family 35, member B4 |
| Synonyms |
4930474D06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34132810-34153921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34144610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 82
(Y82H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019143]
[ENSMUST00000138250]
|
| AlphaFold |
Q8CIA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019143
AA Change: Y82H
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999
AA Change: Y82H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
2 |
314 |
1.7e-120 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146514
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
| Other mutations in Slc35b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01646:Slc35b4
|
APN |
6 |
34,135,364 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01670:Slc35b4
|
APN |
6 |
34,147,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02015:Slc35b4
|
APN |
6 |
34,147,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Slc35b4
|
APN |
6 |
34,135,476 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03051:Slc35b4
|
APN |
6 |
34,137,406 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0008:Slc35b4
|
UTSW |
6 |
34,135,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Slc35b4
|
UTSW |
6 |
34,135,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Slc35b4
|
UTSW |
6 |
34,138,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1304:Slc35b4
|
UTSW |
6 |
34,140,300 (GRCm39) |
nonsense |
probably null |
|
|
R1606:Slc35b4
|
UTSW |
6 |
34,135,323 (GRCm39) |
nonsense |
probably null |
|
|
R1713:Slc35b4
|
UTSW |
6 |
34,147,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1872:Slc35b4
|
UTSW |
6 |
34,135,440 (GRCm39) |
nonsense |
probably null |
|
|
R5539:Slc35b4
|
UTSW |
6 |
34,153,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6954:Slc35b4
|
UTSW |
6 |
34,135,556 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7339:Slc35b4
|
UTSW |
6 |
34,144,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Slc35b4
|
UTSW |
6 |
34,140,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8189:Slc35b4
|
UTSW |
6 |
34,144,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Slc35b4
|
UTSW |
6 |
34,137,442 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2014-01-21 |
Incidental Mutation