Incidental Mutation 'R6237:Galnt5'
ID |
504980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt5
|
Ensembl Gene |
ENSMUSG00000026828 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
Synonyms |
ppGaNTase-T5 |
MMRRC Submission |
044362-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6237 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57925261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Cysteine
at position 847
(W847C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
AlphaFold |
Q8C102 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112616
AA Change: W847C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108235 Gene: ENSMUSG00000026828 AA Change: W847C
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 damaging
Transcript: ENSMUST00000166729
AA Change: W847C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131362 Gene: ENSMUSG00000026828 AA Change: W847C
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (53/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
G |
A |
8: 120,342,502 (GRCm39) |
R380H |
probably damaging |
Het |
Akr1c12 |
C |
A |
13: 4,325,767 (GRCm39) |
D109Y |
possibly damaging |
Het |
Cacna1s |
A |
T |
1: 136,033,582 (GRCm39) |
M1020L |
possibly damaging |
Het |
Cbx8 |
C |
A |
11: 118,931,213 (GRCm39) |
R25L |
possibly damaging |
Het |
Ccdc87 |
A |
G |
19: 4,891,407 (GRCm39) |
Y633C |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,484,752 (GRCm39) |
S505N |
unknown |
Het |
Cr2 |
T |
A |
1: 194,839,810 (GRCm39) |
H539L |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,872,999 (GRCm39) |
D47E |
probably benign |
Het |
Dnah3 |
A |
C |
7: 119,608,607 (GRCm39) |
M1784R |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,966,828 (GRCm39) |
L2520* |
probably null |
Het |
E2f2 |
A |
G |
4: 135,905,796 (GRCm39) |
E103G |
possibly damaging |
Het |
Eef1akmt3 |
T |
A |
10: 126,868,877 (GRCm39) |
H199L |
possibly damaging |
Het |
Faxc |
A |
T |
4: 21,993,376 (GRCm39) |
N340I |
possibly damaging |
Het |
Fer1l6 |
A |
T |
15: 58,497,026 (GRCm39) |
R1199* |
probably null |
Het |
Fer1l6 |
A |
G |
15: 58,509,855 (GRCm39) |
D1439G |
probably damaging |
Het |
Gbp2 |
G |
A |
3: 142,337,793 (GRCm39) |
S303N |
probably benign |
Het |
Glipr1l1 |
A |
T |
10: 111,896,332 (GRCm39) |
K40* |
probably null |
Het |
Gm4353 |
A |
C |
7: 115,683,134 (GRCm39) |
L149R |
possibly damaging |
Het |
Grk5 |
A |
G |
19: 61,078,380 (GRCm39) |
D479G |
probably damaging |
Het |
Gzmc |
T |
A |
14: 56,471,486 (GRCm39) |
|
probably null |
Het |
Hace1 |
T |
C |
10: 45,524,986 (GRCm39) |
Y251H |
probably benign |
Het |
Hhla1 |
G |
T |
15: 65,813,646 (GRCm39) |
P229T |
probably damaging |
Het |
Hspa1l |
C |
T |
17: 35,196,428 (GRCm39) |
Q156* |
probably null |
Het |
Igkv4-78 |
A |
T |
6: 69,036,683 (GRCm39) |
Y117N |
probably benign |
Het |
Ikzf3 |
C |
A |
11: 98,357,879 (GRCm39) |
R486L |
probably damaging |
Het |
Itpr1 |
C |
T |
6: 108,355,164 (GRCm39) |
T485M |
possibly damaging |
Het |
Kcnab3 |
T |
C |
11: 69,219,401 (GRCm39) |
Y131H |
probably benign |
Het |
Kcnu1 |
C |
T |
8: 26,422,362 (GRCm39) |
P209L |
probably benign |
Het |
Klk1b8 |
T |
A |
7: 43,448,094 (GRCm39) |
C39* |
probably null |
Het |
Mbtps1 |
A |
G |
8: 120,255,700 (GRCm39) |
L519P |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,495,673 (GRCm39) |
I287T |
probably damaging |
Het |
Mindy2 |
T |
C |
9: 70,512,480 (GRCm39) |
E590G |
possibly damaging |
Het |
Mllt11 |
G |
T |
3: 95,127,602 (GRCm39) |
T56K |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,875,249 (GRCm39) |
R1551H |
probably damaging |
Het |
Nmrk2 |
T |
C |
10: 81,036,796 (GRCm39) |
T16A |
possibly damaging |
Het |
Or2ab1 |
T |
A |
11: 58,488,831 (GRCm39) |
F203Y |
probably damaging |
Het |
Or7e170 |
G |
T |
9: 19,795,365 (GRCm39) |
P79T |
probably damaging |
Het |
Osbpl9 |
T |
C |
4: 109,013,899 (GRCm39) |
D65G |
probably damaging |
Het |
Phf2 |
T |
A |
13: 48,957,131 (GRCm39) |
K1079* |
probably null |
Het |
Plcb1 |
A |
G |
2: 135,212,486 (GRCm39) |
S1026G |
possibly damaging |
Het |
Pnrc2 |
A |
T |
4: 135,599,397 (GRCm39) |
H117Q |
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,749,455 (GRCm39) |
I1114F |
probably damaging |
Het |
Rpl12 |
G |
A |
2: 32,853,000 (GRCm39) |
E72K |
probably benign |
Het |
Sbf1 |
C |
T |
15: 89,177,679 (GRCm39) |
R1642H |
probably benign |
Het |
Sephs2 |
G |
A |
7: 126,873,118 (GRCm39) |
|
probably benign |
Het |
Slc35c2 |
A |
T |
2: 165,122,617 (GRCm39) |
L194H |
probably damaging |
Het |
Slfn4 |
T |
A |
11: 83,079,938 (GRCm39) |
Y150N |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,292,723 (GRCm39) |
R949G |
probably damaging |
Het |
Urah |
T |
A |
7: 140,415,618 (GRCm39) |
S28T |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,941,860 (GRCm39) |
S649P |
probably damaging |
Het |
Wnk1 |
C |
A |
6: 119,929,728 (GRCm39) |
G1263V |
probably damaging |
Het |
Zbtb4 |
C |
A |
11: 69,669,069 (GRCm39) |
D114E |
possibly 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 |
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'- ACCCACAGTGATCGTCTTCC -3'
(R):5'- TTCAGACTGGGGAAGTGGAC -3'
Sequencing Primer
(F):5'- GATCGTCTTCCTCTTCAACATAACAG -3'
(R):5'- CAGACTGGGGAAGTGGACTTTGTAG -3'
|
Posted On |
2018-02-28 |