Incidental Mutation 'R6959:Galnt5'
ID |
541630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt5
|
Ensembl Gene |
ENSMUSG00000026828 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
Synonyms |
ppGaNTase-T5 |
MMRRC Submission |
045069-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6959 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57889231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 277
(D277G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
AlphaFold |
Q8C102 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112616
AA Change: D277G
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108235 Gene: ENSMUSG00000026828 AA Change: D277G
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 |
probably benign
Transcript: ENSMUST00000166729
AA Change: D277G
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131362 Gene: ENSMUSG00000026828 AA Change: D277G
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: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
Validation Efficiency |
94% (61/65) |
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 [provided by RefSeq, Aug 2016] PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
G |
A |
11: 70,507,485 (GRCm39) |
G177R |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,927,249 (GRCm39) |
T292A |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,870,467 (GRCm39) |
D173E |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 37,021,338 (GRCm39) |
V2154G |
probably damaging |
Het |
Btnl2 |
G |
A |
17: 34,582,333 (GRCm39) |
V300M |
possibly damaging |
Het |
Calcrl |
A |
T |
2: 84,200,428 (GRCm39) |
N117K |
possibly damaging |
Het |
Castor2 |
T |
C |
5: 134,164,052 (GRCm39) |
S83P |
probably damaging |
Het |
Ccdc196 |
A |
G |
12: 78,249,070 (GRCm39) |
K139E |
probably damaging |
Het |
Ccl22 |
A |
T |
8: 95,473,528 (GRCm39) |
|
probably null |
Het |
Cd200r1 |
T |
A |
16: 44,610,539 (GRCm39) |
S216T |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,278,906 (GRCm39) |
|
probably null |
Het |
Cfap157 |
A |
G |
2: 32,674,260 (GRCm39) |
I47T |
probably damaging |
Het |
Chodl |
G |
A |
16: 78,743,572 (GRCm39) |
V220I |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,479,807 (GRCm39) |
T225A |
probably benign |
Het |
Duoxa1 |
T |
C |
2: 122,134,318 (GRCm39) |
S267G |
probably damaging |
Het |
Epb41l1 |
G |
A |
2: 156,341,507 (GRCm39) |
S164N |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,908,181 (GRCm39) |
D2607G |
possibly damaging |
Het |
Galnt6 |
A |
G |
15: 100,612,006 (GRCm39) |
I212T |
probably damaging |
Het |
Gm45861 |
T |
C |
8: 28,038,213 (GRCm39) |
|
probably null |
Het |
Gm5478 |
T |
C |
15: 101,553,883 (GRCm39) |
D243G |
probably damaging |
Het |
Gse1 |
A |
G |
8: 121,297,710 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,246,600 (GRCm39) |
Q1096L |
probably benign |
Het |
Hycc1 |
T |
C |
5: 24,196,754 (GRCm39) |
I45V |
possibly damaging |
Het |
Idh3b |
A |
G |
2: 130,123,447 (GRCm39) |
V181A |
probably damaging |
Het |
Igf2bp3 |
T |
C |
6: 49,094,082 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
A |
G |
1: 69,577,929 (GRCm39) |
*382Q |
probably null |
Het |
Impg2 |
A |
C |
16: 56,088,693 (GRCm39) |
H1073P |
probably benign |
Het |
Incenp |
T |
C |
19: 9,854,134 (GRCm39) |
E639G |
unknown |
Het |
Kcne4 |
A |
G |
1: 78,795,603 (GRCm39) |
M84V |
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,957,713 (GRCm39) |
F1004I |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 16,222,820 (GRCm39) |
I2040V |
probably damaging |
Het |
Mau2 |
T |
C |
8: 70,485,878 (GRCm39) |
D110G |
probably damaging |
Het |
Mei1 |
T |
C |
15: 82,009,076 (GRCm39) |
V1237A |
probably benign |
Het |
Mfsd11 |
T |
G |
11: 116,752,495 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,145,883 (GRCm39) |
F1293L |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,440,294 (GRCm39) |
T280A |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,928,411 (GRCm39) |
A6085E |
probably damaging |
Het |
Or51b6b |
T |
A |
7: 103,310,050 (GRCm39) |
I136F |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,375,993 (GRCm39) |
A1381T |
probably benign |
Het |
Pramel41 |
T |
A |
5: 94,594,891 (GRCm39) |
N250K |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,184,621 (GRCm39) |
V1462A |
probably damaging |
Het |
Rbx1 |
T |
A |
15: 81,355,163 (GRCm39) |
C56* |
probably null |
Het |
Reln |
A |
G |
5: 22,181,562 (GRCm39) |
S1774P |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sarnp |
T |
C |
10: 128,684,137 (GRCm39) |
V111A |
possibly damaging |
Het |
Scube1 |
G |
T |
15: 83,513,636 (GRCm39) |
Q345K |
probably benign |
Het |
Slc18b1 |
A |
G |
10: 23,701,942 (GRCm39) |
|
probably null |
Het |
Slc37a2 |
T |
A |
9: 37,152,630 (GRCm39) |
T64S |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,395,727 (GRCm39) |
D710G |
possibly damaging |
Het |
Srp72 |
T |
A |
5: 77,142,070 (GRCm39) |
Y375N |
possibly damaging |
Het |
Tmco4 |
T |
A |
4: 138,737,810 (GRCm39) |
V135D |
probably damaging |
Het |
Trim62 |
A |
G |
4: 128,802,955 (GRCm39) |
D335G |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,858,778 (GRCm39) |
M196V |
probably benign |
Het |
Tspan10 |
T |
A |
11: 120,335,522 (GRCm39) |
C211S |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,061,656 (GRCm39) |
M498K |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,704,928 (GRCm39) |
|
probably null |
Het |
Ttll1 |
G |
T |
15: 83,386,397 (GRCm39) |
Y69* |
probably null |
Het |
Usp28 |
T |
A |
9: 48,912,842 (GRCm39) |
L31H |
probably damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,282,400 (GRCm39) |
S739P |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,533,555 (GRCm39) |
F64I |
probably damaging |
Het |
Ywhaq |
A |
G |
12: 21,446,281 (GRCm39) |
|
probably null |
Het |
Zfr |
T |
C |
15: 12,150,409 (GRCm39) |
S459P |
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 |
R0677:Galnt5
|
UTSW |
2 |
57,888,992 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- ACCCTGAATATGACCATCAGTG -3'
(R):5'- TGGACTTCCACCCAGTAATTTAGG -3'
Sequencing Primer
(F):5'- TGACCATCAGTGTCAAGACTG -3'
(R):5'- CCCAGTAATTTAGGAAACACAGTTTG -3'
|
Posted On |
2018-11-28 |