Incidental Mutation 'R0677:Galnt5'
ID |
61666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt5
|
Ensembl Gene |
ENSMUSG00000026828 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
Synonyms |
ppGaNTase-T5 |
MMRRC Submission |
038862-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0677 (G1)
|
Quality Score |
92 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 57888992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 197
(Y197*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
AlphaFold |
Q8C102 |
Predicted Effect |
probably null
Transcript: ENSMUST00000112616
AA Change: Y197*
|
SMART Domains |
Protein: ENSMUSP00000108235 Gene: ENSMUSG00000026828 AA Change: Y197*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
489 |
672 |
1.3e-33 |
PFAM |
Pfam:Glyco_transf_7C
|
653 |
718 |
1.9e-8 |
PFAM |
RICIN
|
801 |
925 |
1.36e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144671
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166729
AA Change: Y197*
|
SMART Domains |
Protein: ENSMUSP00000131362 Gene: ENSMUSG00000026828 AA Change: Y197*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
489 |
672 |
2.1e-30 |
PFAM |
Pfam:Glyco_transf_7C
|
652 |
718 |
7e-8 |
PFAM |
RICIN
|
801 |
925 |
1.36e-19 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
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 is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016] PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
probably damaging |
Het |
|
Other mutations in Galnt5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Galnt5
|
APN |
2 |
57,888,985 (GRCm39) |
missense |
probably benign |
|
IGL00515:Galnt5
|
APN |
2 |
57,889,080 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00950:Galnt5
|
APN |
2 |
57,889,144 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00973:Galnt5
|
APN |
2 |
57,888,951 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01152:Galnt5
|
APN |
2 |
57,915,405 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01305:Galnt5
|
APN |
2 |
57,915,354 (GRCm39) |
nonsense |
probably null |
|
IGL01661:Galnt5
|
APN |
2 |
57,889,494 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01719:Galnt5
|
APN |
2 |
57,888,555 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Galnt5
|
APN |
2 |
57,888,877 (GRCm39) |
missense |
probably benign |
|
IGL02795:Galnt5
|
APN |
2 |
57,917,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Galnt5
|
APN |
2 |
57,889,780 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03218:Galnt5
|
APN |
2 |
57,889,401 (GRCm39) |
missense |
possibly damaging |
0.59 |
ANU22:Galnt5
|
UTSW |
2 |
57,915,354 (GRCm39) |
nonsense |
probably null |
|
R0082:Galnt5
|
UTSW |
2 |
57,889,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0113:Galnt5
|
UTSW |
2 |
57,888,889 (GRCm39) |
missense |
probably benign |
|
R0445:Galnt5
|
UTSW |
2 |
57,888,962 (GRCm39) |
missense |
probably benign |
|
R0517:Galnt5
|
UTSW |
2 |
57,925,385 (GRCm39) |
splice site |
probably benign |
|
R0609:Galnt5
|
UTSW |
2 |
57,914,637 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0639:Galnt5
|
UTSW |
2 |
57,889,407 (GRCm39) |
missense |
probably benign |
0.07 |
R0646:Galnt5
|
UTSW |
2 |
57,889,097 (GRCm39) |
missense |
probably benign |
0.00 |
R1808:Galnt5
|
UTSW |
2 |
57,916,137 (GRCm39) |
missense |
probably benign |
0.24 |
R1927:Galnt5
|
UTSW |
2 |
57,888,615 (GRCm39) |
missense |
probably benign |
0.00 |
R1980:Galnt5
|
UTSW |
2 |
57,914,735 (GRCm39) |
critical splice donor site |
probably null |
|
R2517:Galnt5
|
UTSW |
2 |
57,889,425 (GRCm39) |
missense |
probably benign |
0.00 |
R4044:Galnt5
|
UTSW |
2 |
57,888,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R4154:Galnt5
|
UTSW |
2 |
57,888,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4411:Galnt5
|
UTSW |
2 |
57,889,207 (GRCm39) |
missense |
probably benign |
0.01 |
R4703:Galnt5
|
UTSW |
2 |
57,888,919 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4767:Galnt5
|
UTSW |
2 |
57,918,156 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5118:Galnt5
|
UTSW |
2 |
57,905,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Galnt5
|
UTSW |
2 |
57,915,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R5506:Galnt5
|
UTSW |
2 |
57,889,637 (GRCm39) |
missense |
probably benign |
|
R5548:Galnt5
|
UTSW |
2 |
57,904,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R5758:Galnt5
|
UTSW |
2 |
57,888,442 (GRCm39) |
missense |
probably benign |
0.19 |
R5937:Galnt5
|
UTSW |
2 |
57,928,949 (GRCm39) |
missense |
probably benign |
0.00 |
R6237:Galnt5
|
UTSW |
2 |
57,925,261 (GRCm39) |
missense |
probably damaging |
0.96 |
R6805:Galnt5
|
UTSW |
2 |
57,925,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6959:Galnt5
|
UTSW |
2 |
57,889,231 (GRCm39) |
missense |
probably benign |
0.39 |
R7070:Galnt5
|
UTSW |
2 |
57,888,621 (GRCm39) |
missense |
probably benign |
0.00 |
R7179:Galnt5
|
UTSW |
2 |
57,888,621 (GRCm39) |
missense |
probably benign |
0.06 |
R7347:Galnt5
|
UTSW |
2 |
57,907,205 (GRCm39) |
missense |
probably benign |
0.33 |
R7419:Galnt5
|
UTSW |
2 |
57,904,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Galnt5
|
UTSW |
2 |
57,907,151 (GRCm39) |
missense |
probably damaging |
0.99 |
R7492:Galnt5
|
UTSW |
2 |
57,916,048 (GRCm39) |
splice site |
probably null |
|
R7539:Galnt5
|
UTSW |
2 |
57,925,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R7623:Galnt5
|
UTSW |
2 |
57,907,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R8135:Galnt5
|
UTSW |
2 |
57,904,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R8155:Galnt5
|
UTSW |
2 |
57,889,427 (GRCm39) |
missense |
probably benign |
0.01 |
R8544:Galnt5
|
UTSW |
2 |
57,907,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R9267:Galnt5
|
UTSW |
2 |
57,925,220 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9747:Galnt5
|
UTSW |
2 |
57,889,477 (GRCm39) |
missense |
probably benign |
0.11 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGCAAGCCTGAAGTCTCCTCCC -3'
(R):5'- TGGCTGCATCATCTTCTGGCAATC -3'
Sequencing Primer
(F):5'- TCCCAATACATGATGTCCAAGTGG -3'
(R):5'- TGGCAATCTTCCCAACTGTG -3'
|
Posted On |
2013-07-30 |