Incidental Mutation 'R2989:C1galt1'
ID |
257860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1galt1
|
Ensembl Gene |
ENSMUSG00000042460 |
Gene Name |
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 |
Synonyms |
2210410E06Rik, T-synthase, core 1 beta3-Gal-T |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2989 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
7845224-7872042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7866622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 156
(D156G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040159]
|
AlphaFold |
Q9JJ06 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040159
AA Change: D156G
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047931 Gene: ENSMUSG00000042460 AA Change: D156G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Fringe
|
83 |
283 |
3e-18 |
PFAM |
Pfam:Galactosyl_T
|
108 |
258 |
6.2e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203898
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010] PHENOTYPE: Embryos homozygous for a null allele show impaired angiogenesis, chaotic microvascular networks in brain, and fatal hemorrhage by E14. Eggs homozygous for another null allele show a slightly thinner zona pellucida. Mice homozygous for an ENU-induced allele develop thrombocytopenia and renal disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,729,866 (GRCm39) |
T205I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,150,694 (GRCm39) |
N31K |
possibly damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Coil |
C |
A |
11: 88,878,805 (GRCm39) |
A520D |
probably damaging |
Het |
Cpe |
G |
T |
8: 65,050,549 (GRCm39) |
N386K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,061,302 (GRCm39) |
I4295T |
probably benign |
Het |
Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
G530012D18Rik |
GAGAGAGACAGAGAGACAGAGA |
GAGAGAGACAGAGA |
1: 85,504,937 (GRCm39) |
|
probably null |
Het |
Intu |
A |
G |
3: 40,647,140 (GRCm39) |
K671R |
probably benign |
Het |
Jup |
T |
C |
11: 100,267,667 (GRCm39) |
D552G |
possibly damaging |
Het |
Kcnk9 |
T |
C |
15: 72,384,207 (GRCm39) |
T324A |
unknown |
Het |
Mettl5 |
G |
T |
2: 69,711,659 (GRCm39) |
A69E |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,583,831 (GRCm39) |
M303K |
probably benign |
Het |
Rpf2 |
A |
G |
10: 40,115,749 (GRCm39) |
S77P |
probably benign |
Het |
Sgo1 |
A |
G |
17: 53,994,162 (GRCm39) |
Y97H |
probably benign |
Het |
Srsf12 |
T |
C |
4: 33,223,599 (GRCm39) |
Y33H |
probably damaging |
Het |
Tcerg1 |
T |
A |
18: 42,652,540 (GRCm39) |
M56K |
unknown |
Het |
Trafd1 |
T |
C |
5: 121,517,529 (GRCm39) |
T63A |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,371,881 (GRCm39) |
V777I |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,190,869 (GRCm39) |
E937G |
possibly damaging |
Het |
Zfp677 |
T |
C |
17: 21,617,114 (GRCm39) |
I57T |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,347 (GRCm39) |
I424N |
probably benign |
Het |
|
Other mutations in C1galt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00696:C1galt1
|
APN |
6 |
7,866,475 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4378001:C1galt1
|
UTSW |
6 |
7,863,944 (GRCm39) |
missense |
probably benign |
0.01 |
R0086:C1galt1
|
UTSW |
6 |
7,867,051 (GRCm39) |
splice site |
probably benign |
|
R0540:C1galt1
|
UTSW |
6 |
7,871,193 (GRCm39) |
missense |
probably benign |
0.00 |
R0567:C1galt1
|
UTSW |
6 |
7,866,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:C1galt1
|
UTSW |
6 |
7,871,193 (GRCm39) |
missense |
probably benign |
0.00 |
R1519:C1galt1
|
UTSW |
6 |
7,866,402 (GRCm39) |
missense |
probably damaging |
0.99 |
R1712:C1galt1
|
UTSW |
6 |
7,871,217 (GRCm39) |
missense |
probably benign |
|
R3035:C1galt1
|
UTSW |
6 |
7,866,762 (GRCm39) |
missense |
probably benign |
0.06 |
R4271:C1galt1
|
UTSW |
6 |
7,866,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:C1galt1
|
UTSW |
6 |
7,866,379 (GRCm39) |
missense |
probably benign |
0.42 |
R5029:C1galt1
|
UTSW |
6 |
7,863,931 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5393:C1galt1
|
UTSW |
6 |
7,864,143 (GRCm39) |
critical splice donor site |
probably null |
|
R5448:C1galt1
|
UTSW |
6 |
7,866,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7055:C1galt1
|
UTSW |
6 |
7,866,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:C1galt1
|
UTSW |
6 |
7,871,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:C1galt1
|
UTSW |
6 |
7,866,379 (GRCm39) |
missense |
probably benign |
0.42 |
R9355:C1galt1
|
UTSW |
6 |
7,866,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R9755:C1galt1
|
UTSW |
6 |
7,867,019 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGAGAACCTCTATCAGAAAG -3'
(R):5'- CTTGCTTAGGACATAGCCCG -3'
Sequencing Primer
(F):5'- GGGTTATGACAAGTCCTCAAAATC -3'
(R):5'- TAGGACATAGCCCGCTCCTC -3'
|
Posted On |
2015-01-11 |