Incidental Mutation 'R7725:St3gal4'
ID |
595448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St3gal4
|
Ensembl Gene |
ENSMUSG00000032038 |
Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
Synonyms |
ST3Gal IV, Siat4c |
MMRRC Submission |
045781-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R7725 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
34957872-35028160 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34964375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 209
(R209L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034537
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034537]
[ENSMUST00000213526]
[ENSMUST00000214526]
[ENSMUST00000215089]
[ENSMUST00000215463]
[ENSMUST00000215638]
[ENSMUST00000216557]
[ENSMUST00000217149]
[ENSMUST00000217542]
|
AlphaFold |
Q91Y74 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034537
AA Change: R209L
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000034537 Gene: ENSMUSG00000032038 AA Change: R209L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
70 |
332 |
4.1e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213526
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214526
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215089
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215463
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215638
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216557
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217149
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217542
|
Meta Mutation Damage Score |
0.4455 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Homozygotes for a null allele show thrombocytopenia, altered platelet physiology, increased bleeding times, and abnormal leukocyte migration. Homozygotes for a different null allele fail to develop seizures in response to kindling, and show anxiety-like behaviors and altered sleep patterns. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa2 |
A |
T |
9: 69,387,410 (GRCm39) |
K6N |
unknown |
Het |
Arhgap20 |
T |
A |
9: 51,743,050 (GRCm39) |
M296K |
possibly damaging |
Het |
Bdh1 |
G |
A |
16: 31,256,910 (GRCm39) |
V20I |
not run |
Het |
Bop1 |
A |
G |
15: 76,339,583 (GRCm39) |
I254T |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Cct4 |
A |
G |
11: 22,940,814 (GRCm39) |
K21E |
probably benign |
Het |
Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
Clip2 |
A |
T |
5: 134,546,853 (GRCm39) |
Y238* |
probably null |
Het |
Col19a1 |
A |
T |
1: 24,309,525 (GRCm39) |
S1043T |
possibly damaging |
Het |
Ctcf |
A |
G |
8: 106,390,468 (GRCm39) |
Y25C |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,704,330 (GRCm39) |
R282C |
probably benign |
Het |
Eef1g |
T |
A |
19: 8,955,427 (GRCm39) |
H425Q |
probably benign |
Het |
Fam131b |
C |
T |
6: 42,295,476 (GRCm39) |
A234T |
probably benign |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam187b |
A |
G |
7: 30,677,139 (GRCm39) |
D216G |
possibly damaging |
Het |
Gabra1 |
A |
T |
11: 42,026,270 (GRCm39) |
Y341N |
possibly damaging |
Het |
Glb1l3 |
T |
A |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
Gm3667 |
T |
A |
14: 18,271,599 (GRCm39) |
Q52L |
probably damaging |
Het |
Gpr179 |
C |
T |
11: 97,242,118 (GRCm39) |
R242H |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,245,522 (GRCm39) |
Y24C |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,358,680 (GRCm39) |
E49V |
unknown |
Het |
Htra4 |
A |
G |
8: 25,527,169 (GRCm39) |
S209P |
possibly damaging |
Het |
Lmntd1 |
A |
G |
6: 145,489,196 (GRCm39) |
S22P |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,499,325 (GRCm39) |
N164K |
probably benign |
Het |
Med12l |
A |
G |
3: 59,163,413 (GRCm39) |
K1347E |
probably damaging |
Het |
Mrc1 |
C |
A |
2: 14,284,788 (GRCm39) |
D592E |
probably benign |
Het |
Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,100,630 (GRCm39) |
V1316A |
|
Het |
Odad1 |
T |
A |
7: 45,597,835 (GRCm39) |
S582T |
probably damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,593 (GRCm39) |
Y193H |
probably damaging |
Het |
Or2y10 |
A |
T |
11: 49,455,359 (GRCm39) |
I204L |
probably benign |
Het |
Or5t16 |
T |
C |
2: 86,819,323 (GRCm39) |
I66V |
probably benign |
Het |
Serpina6 |
A |
T |
12: 103,614,936 (GRCm39) |
Y303* |
probably null |
Het |
Shld2 |
T |
G |
14: 33,990,661 (GRCm39) |
T82P |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,089,512 (GRCm39) |
L754P |
probably benign |
Het |
Skint5 |
C |
A |
4: 113,685,099 (GRCm39) |
L539F |
unknown |
Het |
Tex14 |
A |
C |
11: 87,385,868 (GRCm39) |
T243P |
probably damaging |
Het |
Ttc12 |
T |
A |
9: 49,351,602 (GRCm39) |
M632L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,738,116 (GRCm39) |
E4187G |
unknown |
Het |
Txk |
G |
A |
5: 72,864,900 (GRCm39) |
A379V |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,923,338 (GRCm39) |
Y28C |
probably benign |
Het |
Zfp1005 |
A |
G |
2: 150,110,468 (GRCm39) |
Y386C |
unknown |
Het |
Zfp40 |
A |
G |
17: 23,397,251 (GRCm39) |
V82A |
probably benign |
Het |
Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
Het |
|
Other mutations in St3gal4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00691:St3gal4
|
APN |
9 |
34,964,365 (GRCm39) |
unclassified |
probably benign |
|
IGL01448:St3gal4
|
APN |
9 |
34,963,627 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01770:St3gal4
|
APN |
9 |
34,963,601 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02862:St3gal4
|
APN |
9 |
34,963,543 (GRCm39) |
missense |
probably benign |
0.32 |
fuji
|
UTSW |
9 |
34,964,469 (GRCm39) |
nonsense |
probably null |
|
Granny_smith
|
UTSW |
9 |
34,964,558 (GRCm39) |
missense |
probably damaging |
1.00 |
Pomology
|
UTSW |
9 |
34,964,375 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0362:St3gal4
|
UTSW |
9 |
34,964,469 (GRCm39) |
nonsense |
probably null |
|
R0863:St3gal4
|
UTSW |
9 |
34,964,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:St3gal4
|
UTSW |
9 |
34,966,053 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1530:St3gal4
|
UTSW |
9 |
34,963,592 (GRCm39) |
missense |
probably benign |
0.00 |
R4991:St3gal4
|
UTSW |
9 |
34,964,432 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5452:St3gal4
|
UTSW |
9 |
34,964,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:St3gal4
|
UTSW |
9 |
34,964,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R7564:St3gal4
|
UTSW |
9 |
34,963,549 (GRCm39) |
missense |
probably benign |
0.09 |
R8080:St3gal4
|
UTSW |
9 |
35,017,617 (GRCm39) |
splice site |
probably null |
|
R8356:St3gal4
|
UTSW |
9 |
34,964,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8936:St3gal4
|
UTSW |
9 |
34,964,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R8984:St3gal4
|
UTSW |
9 |
34,966,944 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9258:St3gal4
|
UTSW |
9 |
34,963,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGCAGTTAATCAGCAGC -3'
(R):5'- TTTTCCTGGGCCAGATTGAAC -3'
Sequencing Primer
(F):5'- GGCAGTTAATCAGCAGCCCTAC -3'
(R):5'- CCAGATTGAACAATGCTCCTGTGG -3'
|
Posted On |
2019-11-12 |