Incidental Mutation 'R0567:C1galt1'
| ID |
46209 |
| 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 |
| MMRRC Submission |
038758-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0567 (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 7866874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 240
(D240G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040159]
|
| AlphaFold |
Q9JJ06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040159
AA Change: D240G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047931
Gene: ENSMUSG00000042460
AA Change: D240G
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Akr1b1 |
A |
T |
6: 34,281,280 (GRCm39) |
|
probably null |
Het |
| Alox8 |
A |
T |
11: 69,082,348 (GRCm39) |
|
probably null |
Het |
| Apcdd1 |
G |
A |
18: 63,067,107 (GRCm39) |
E74K |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,882 (GRCm39) |
V388A |
probably benign |
Het |
| AW554918 |
G |
A |
18: 25,533,092 (GRCm39) |
E452K |
possibly damaging |
Het |
| Ceacam10 |
T |
A |
7: 24,477,834 (GRCm39) |
D116E |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,293,231 (GRCm39) |
V912L |
possibly damaging |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,959 (GRCm39) |
T136I |
probably damaging |
Het |
| Denr |
C |
T |
5: 124,046,221 (GRCm39) |
T17M |
probably benign |
Het |
| Doc2b |
A |
G |
11: 75,670,950 (GRCm39) |
F227S |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,376,414 (GRCm39) |
T1400S |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,822,873 (GRCm39) |
D412V |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,734 (GRCm39) |
G1949D |
possibly damaging |
Het |
| Gstp3 |
A |
T |
19: 4,107,636 (GRCm39) |
L176Q |
possibly damaging |
Het |
| H2ac12 |
T |
C |
13: 22,219,734 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,956,872 (GRCm39) |
N1075I |
probably damaging |
Het |
| Ighv1-69 |
C |
T |
12: 115,587,169 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,682,309 (GRCm39) |
I1092V |
probably benign |
Het |
| Lipg |
A |
T |
18: 75,090,440 (GRCm39) |
H36Q |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,468,318 (GRCm39) |
W836R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,800 (GRCm39) |
C186S |
probably damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,115 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
T |
C |
7: 100,647,748 (GRCm39) |
T186A |
probably damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,724,364 (GRCm39) |
T300A |
probably benign |
Het |
| Rab26 |
C |
A |
17: 24,748,556 (GRCm39) |
V283F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,545,783 (GRCm39) |
R1180Q |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,112,312 (GRCm39) |
D1891G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 75,937,004 (GRCm39) |
E201K |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,181,988 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,050,059 (GRCm39) |
M493K |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,663 (GRCm39) |
T1017A |
probably benign |
Het |
| Usp17le |
C |
T |
7: 104,418,105 (GRCm39) |
V346I |
possibly damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,556 (GRCm39) |
D44G |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,665 (GRCm39) |
I830M |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,987,294 (GRCm39) |
L93P |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,449 (GRCm39) |
Y500C |
possibly damaging |
Het |
| Zscan20 |
A |
G |
4: 128,483,243 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R2989:C1galt1
|
UTSW |
6 |
7,866,622 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- CTGAACAACCCATTTACTTTGGGCG -3'
(R):5'- CATGACCCACAGGTTTAGAGCACC -3'
Sequencing Primer
(F):5'- GCGAAGATTTAAGCCCTATGTG -3'
(R):5'- GCTGTGTTACACTGTCAGTACATAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation