Incidental Mutation 'IGL02795:Galnt5'
| ID |
359938 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
57997884-58045860 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 58027871 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 707
(P707H)
|
| 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: P707H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: P707H
| 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: P707H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: P707H
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,288,748 (GRCm38) |
L1391P |
probably damaging |
Het |
| Abcc3 |
G |
A |
11: 94,361,642 (GRCm38) |
|
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,462,952 (GRCm38) |
I332T |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,033,742 (GRCm38) |
V247M |
probably damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,460,616 (GRCm38) |
|
probably null |
Het |
| Btnl9 |
A |
T |
11: 49,174,867 (GRCm38) |
|
probably benign |
Het |
| Dbx1 |
T |
A |
7: 49,636,577 (GRCm38) |
I47F |
probably benign |
Het |
| Dnaja3 |
A |
G |
16: 4,690,073 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,927,111 (GRCm38) |
S220G |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,639,978 (GRCm38) |
M451K |
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,933,778 (GRCm38) |
Y257C |
probably benign |
Het |
| Fbxw19 |
C |
A |
9: 109,495,818 (GRCm38) |
M10I |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,203,613 (GRCm38) |
R983W |
unknown |
Het |
| Gba2 |
G |
T |
4: 43,578,331 (GRCm38) |
P6Q |
probably damaging |
Het |
| Gm13199 |
A |
G |
2: 5,862,673 (GRCm38) |
|
probably benign |
Het |
| Gpr45 |
C |
T |
1: 43,032,493 (GRCm38) |
R99C |
possibly damaging |
Het |
| Hecw1 |
G |
A |
13: 14,322,517 (GRCm38) |
S302L |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,957,553 (GRCm38) |
|
probably benign |
Het |
| Kdelc2 |
A |
G |
9: 53,392,105 (GRCm38) |
D99G |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 67,738,894 (GRCm38) |
|
probably null |
Het |
| Lgr4 |
T |
C |
2: 110,008,210 (GRCm38) |
|
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,478,768 (GRCm38) |
T830M |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,689,432 (GRCm38) |
T341A |
probably benign |
Het |
| Mms19 |
C |
T |
19: 41,952,406 (GRCm38) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,803,552 (GRCm38) |
S362G |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,965,285 (GRCm38) |
H87N |
probably damaging |
Het |
| Oit1 |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
| Olfr1018 |
T |
A |
2: 85,823,512 (GRCm38) |
C180* |
probably null |
Het |
| Olfr142 |
A |
G |
2: 90,252,562 (GRCm38) |
L142P |
probably damaging |
Het |
| Olfr183 |
G |
T |
16: 59,000,277 (GRCm38) |
L197F |
possibly damaging |
Het |
| Olfr23 |
G |
A |
11: 73,940,929 (GRCm38) |
V228I |
probably benign |
Het |
| Olfr243 |
T |
A |
7: 103,716,883 (GRCm38) |
F96L |
probably benign |
Het |
| Pcsk1 |
G |
T |
13: 75,112,620 (GRCm38) |
G321C |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,714,299 (GRCm38) |
P374T |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 89,091,950 (GRCm38) |
L175Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,595,190 (GRCm38) |
N4250S |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,730,680 (GRCm38) |
N134T |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,703,411 (GRCm38) |
K595R |
probably benign |
Het |
| Serpinb6a |
A |
C |
13: 33,931,593 (GRCm38) |
L15R |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,327,373 (GRCm38) |
N1006K |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,274,490 (GRCm38) |
|
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,400,895 (GRCm38) |
C139Y |
probably damaging |
Het |
| Slc25a27 |
T |
A |
17: 43,647,112 (GRCm38) |
Y269F |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,575,419 (GRCm38) |
D611V |
probably benign |
Het |
| Spag6 |
G |
T |
2: 18,733,083 (GRCm38) |
V255F |
probably benign |
Het |
| St5 |
T |
C |
7: 109,556,364 (GRCm38) |
Y393C |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,123,223 (GRCm38) |
G698W |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,966,549 (GRCm38) |
L2839P |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,545,959 (GRCm38) |
E58G |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,919,389 (GRCm38) |
E260D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 86,917,701 (GRCm38) |
D493V |
probably damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,215,302 (GRCm38) |
V189A |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,085,277 (GRCm38) |
Q74R |
probably benign |
Het |
| Vps25 |
A |
G |
11: 101,256,090 (GRCm38) |
Y64C |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,509,136 (GRCm38) |
G574S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,837,438 (GRCm38) |
E273G |
possibly damaging |
Het |
|
| Other mutations in Galnt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Galnt5
|
APN |
2 |
57,998,973 (GRCm38) |
missense |
probably benign |
|
|
IGL00515:Galnt5
|
APN |
2 |
57,999,068 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00950:Galnt5
|
APN |
2 |
57,999,132 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00973:Galnt5
|
APN |
2 |
57,998,939 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01152:Galnt5
|
APN |
2 |
58,025,393 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL01305:Galnt5
|
APN |
2 |
58,025,342 (GRCm38) |
nonsense |
probably null |
|
|
IGL01661:Galnt5
|
APN |
2 |
57,999,482 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01719:Galnt5
|
APN |
2 |
57,998,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02165:Galnt5
|
APN |
2 |
57,998,865 (GRCm38) |
missense |
probably benign |
|
|
IGL02943:Galnt5
|
APN |
2 |
57,999,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03218:Galnt5
|
APN |
2 |
57,999,389 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
ANU22:Galnt5
|
UTSW |
2 |
58,025,342 (GRCm38) |
nonsense |
probably null |
|
|
R0082:Galnt5
|
UTSW |
2 |
57,999,035 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0113:Galnt5
|
UTSW |
2 |
57,998,877 (GRCm38) |
missense |
probably benign |
|
|
R0445:Galnt5
|
UTSW |
2 |
57,998,950 (GRCm38) |
missense |
probably benign |
|
|
R0517:Galnt5
|
UTSW |
2 |
58,035,373 (GRCm38) |
splice site |
probably benign |
|
|
R0609:Galnt5
|
UTSW |
2 |
58,024,625 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0639:Galnt5
|
UTSW |
2 |
57,999,395 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0646:Galnt5
|
UTSW |
2 |
57,999,085 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0677:Galnt5
|
UTSW |
2 |
57,998,980 (GRCm38) |
nonsense |
probably null |
|
|
R1808:Galnt5
|
UTSW |
2 |
58,026,125 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1927:Galnt5
|
UTSW |
2 |
57,998,603 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1980:Galnt5
|
UTSW |
2 |
58,024,723 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2517:Galnt5
|
UTSW |
2 |
57,999,413 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4044:Galnt5
|
UTSW |
2 |
57,998,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4154:Galnt5
|
UTSW |
2 |
57,998,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4411:Galnt5
|
UTSW |
2 |
57,999,195 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4703:Galnt5
|
UTSW |
2 |
57,998,907 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4767:Galnt5
|
UTSW |
2 |
58,028,144 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5118:Galnt5
|
UTSW |
2 |
58,015,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5497:Galnt5
|
UTSW |
2 |
58,025,328 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5506:Galnt5
|
UTSW |
2 |
57,999,625 (GRCm38) |
missense |
probably benign |
|
|
R5548:Galnt5
|
UTSW |
2 |
58,014,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5758:Galnt5
|
UTSW |
2 |
57,998,430 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5937:Galnt5
|
UTSW |
2 |
58,038,937 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6237:Galnt5
|
UTSW |
2 |
58,035,249 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6805:Galnt5
|
UTSW |
2 |
58,035,299 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6959:Galnt5
|
UTSW |
2 |
57,999,219 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7070:Galnt5
|
UTSW |
2 |
57,998,609 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7179:Galnt5
|
UTSW |
2 |
57,998,609 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7347:Galnt5
|
UTSW |
2 |
58,017,193 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7419:Galnt5
|
UTSW |
2 |
58,014,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7426:Galnt5
|
UTSW |
2 |
58,017,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7492:Galnt5
|
UTSW |
2 |
58,026,036 (GRCm38) |
splice site |
probably null |
|
|
R7539:Galnt5
|
UTSW |
2 |
58,035,230 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7623:Galnt5
|
UTSW |
2 |
58,017,210 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8135:Galnt5
|
UTSW |
2 |
58,014,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8155:Galnt5
|
UTSW |
2 |
57,999,415 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8544:Galnt5
|
UTSW |
2 |
58,017,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9267:Galnt5
|
UTSW |
2 |
58,035,208 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9747:Galnt5
|
UTSW |
2 |
57,999,465 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Posted On |
2015-12-18 |
Incidental Mutation