Incidental Mutation 'ANU22:Galnt5'
| ID |
262571 |
| Institutional Source |
Beutler Lab
|
| 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 # |
ANU22
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
57997884-58045860 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58025342 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 637
(K637*)
|
| 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: K637*
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: K637*
| 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: K637*
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: K637*
| 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: 98.7%
- 3x: 98.1%
- 10x: 96.2%
- 20x: 92.5%
|
| 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PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,913,714 (GRCm38) |
E663G |
possibly damaging |
Het |
| Adam29 |
T |
A |
8: 55,871,844 (GRCm38) |
H525L |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,737,363 (GRCm38) |
N297D |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,390,082 (GRCm38) |
V506E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,764,791 (GRCm38) |
E1101K |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 37,991,327 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,516,446 (GRCm38) |
H497Q |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,669,551 (GRCm38) |
E96G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,312,624 (GRCm38) |
T2653A |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,380,235 (GRCm38) |
I87F |
possibly damaging |
Het |
| Crybg3 |
T |
A |
16: 59,529,227 (GRCm38) |
H934L |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,371,668 (GRCm38) |
T461I |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,572,278 (GRCm38) |
F183L |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,718,861 (GRCm38) |
S336T |
probably benign |
Het |
| F930017D23Rik |
T |
G |
10: 43,604,375 (GRCm38) |
|
noncoding transcript |
Het |
| Fasl |
A |
G |
1: 161,781,838 (GRCm38) |
V193A |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,275,316 (GRCm38) |
Y187H |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,393,547 (GRCm38) |
Q1423K |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,555,055 (GRCm38) |
T249A |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,859,519 (GRCm38) |
D503V |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,487,650 (GRCm38) |
D216V |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,678,056 (GRCm38) |
R2214C |
probably benign |
Het |
| Micu2 |
T |
A |
14: 57,943,625 (GRCm38) |
D184V |
probably damaging |
Het |
| Nabp2 |
T |
A |
10: 128,408,762 (GRCm38) |
I52F |
probably damaging |
Het |
| Nat8f7 |
A |
T |
6: 85,707,588 (GRCm38) |
L90* |
probably null |
Het |
| Olfr1297 |
T |
C |
2: 111,621,201 (GRCm38) |
N291S |
probably damaging |
Het |
| Olfr30 |
A |
T |
11: 58,455,262 (GRCm38) |
M229K |
probably damaging |
Het |
| Pphln1 |
A |
G |
15: 93,489,104 (GRCm38) |
E273G |
probably damaging |
Het |
| Ppil1 |
C |
A |
17: 29,263,888 (GRCm38) |
V14F |
possibly damaging |
Het |
| Ptprd |
C |
A |
4: 76,100,456 (GRCm38) |
D694Y |
probably damaging |
Het |
| Relt |
A |
T |
7: 100,851,698 (GRCm38) |
L28Q |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,357,387 (GRCm38) |
R2525* |
probably null |
Het |
| St8sia5 |
G |
A |
18: 77,254,662 (GRCm38) |
G320D |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 55,048,274 (GRCm38) |
E582G |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,855,443 (GRCm38) |
N2K |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,163,188 (GRCm38) |
R357* |
probably null |
Het |
| Tmem168 |
A |
T |
6: 13,583,046 (GRCm38) |
V612E |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,001,871 (GRCm38) |
S119G |
probably damaging |
Het |
| Washc5 |
T |
A |
15: 59,355,839 (GRCm38) |
K425* |
probably null |
Het |
| Wdr61 |
C |
A |
9: 54,728,186 (GRCm38) |
V44L |
probably damaging |
Het |
| Wtap |
G |
T |
17: 12,967,895 (GRCm38) |
T255K |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,456,943 (GRCm38) |
V134A |
probably benign |
Het |
| Zfp397 |
C |
T |
18: 23,960,751 (GRCm38) |
S431L |
probably 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 |
|
|
IGL02795:Galnt5
|
APN |
2 |
58,027,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTCATCAACTGTCCCCAACC -3'
(R):5'- CCAGAAGTTTGGCTTAGGGAAGTGC -3'
Sequencing Primer
(F):5'- ACCTAAACTTGTCACAAAGCTG -3'
(R):5'- ttgccactctcctgcttc -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation