Incidental Mutation 'IGL00826:Galnt7'
ID |
10898 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt7
|
Ensembl Gene |
ENSMUSG00000031608 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 7 |
Synonyms |
ppGaNTase-T7 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.830)
|
Stock # |
IGL00826
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
57976862-58106066 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 57993105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 405
(Y405*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034021]
[ENSMUST00000110316]
|
AlphaFold |
Q80VA0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034021
AA Change: Y405*
|
SMART Domains |
Protein: ENSMUSP00000034021 Gene: ENSMUSG00000031608 AA Change: Y405*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
210 |
399 |
3e-28 |
PFAM |
Pfam:Glyco_tranf_2_2
|
210 |
490 |
2e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
375 |
445 |
1.8e-8 |
PFAM |
RICIN
|
531 |
652 |
3.39e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110316
AA Change: Y405*
|
SMART Domains |
Protein: ENSMUSP00000105945 Gene: ENSMUSG00000031608 AA Change: Y405*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
210 |
399 |
8.2e-27 |
PFAM |
Pfam:Glyco_tranf_2_2
|
210 |
490 |
1.3e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
369 |
445 |
9.3e-9 |
PFAM |
RICIN
|
531 |
652 |
3.39e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156907
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
G |
8: 111,766,932 (GRCm39) |
S105A |
probably damaging |
Het |
Adamtsl1 |
C |
T |
4: 86,075,041 (GRCm39) |
P136L |
probably damaging |
Het |
Akap13 |
C |
A |
7: 75,327,195 (GRCm39) |
N376K |
probably damaging |
Het |
Casp2 |
T |
A |
6: 42,246,219 (GRCm39) |
Y192* |
probably null |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,727,949 (GRCm39) |
Y68H |
possibly damaging |
Het |
Cyp2j9 |
A |
T |
4: 96,474,167 (GRCm39) |
I91K |
possibly damaging |
Het |
Diablo |
T |
C |
5: 123,650,751 (GRCm39) |
I179M |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,880,768 (GRCm39) |
V2610M |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,168,372 (GRCm39) |
A696T |
probably damaging |
Het |
Eaf2 |
A |
T |
16: 36,621,038 (GRCm39) |
M218K |
probably benign |
Het |
Emc9 |
G |
T |
14: 55,822,377 (GRCm39) |
L64I |
possibly damaging |
Het |
Epb41l2 |
T |
C |
10: 25,317,620 (GRCm39) |
S46P |
probably benign |
Het |
Gnl3 |
A |
G |
14: 30,734,753 (GRCm39) |
|
probably benign |
Het |
Map1a |
A |
G |
2: 121,132,757 (GRCm39) |
Q1191R |
possibly damaging |
Het |
Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
Nbeal2 |
A |
G |
9: 110,455,971 (GRCm39) |
V2408A |
probably benign |
Het |
Npepps |
T |
C |
11: 97,126,884 (GRCm39) |
|
probably benign |
Het |
Osbpl8 |
A |
T |
10: 111,108,181 (GRCm39) |
|
probably benign |
Het |
Phf12 |
G |
T |
11: 77,906,332 (GRCm39) |
R282L |
probably damaging |
Het |
Phf21a |
T |
G |
2: 92,174,881 (GRCm39) |
|
probably benign |
Het |
Plin2 |
T |
C |
4: 86,582,683 (GRCm39) |
N98D |
possibly damaging |
Het |
Prl7a1 |
A |
G |
13: 27,824,778 (GRCm39) |
V19A |
probably damaging |
Het |
Slfn10-ps |
T |
C |
11: 82,926,085 (GRCm39) |
|
noncoding transcript |
Het |
Spag11b |
T |
G |
8: 19,191,423 (GRCm39) |
V33G |
possibly damaging |
Het |
Trappc13 |
A |
T |
13: 104,281,016 (GRCm39) |
S349T |
probably benign |
Het |
Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Galnt7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Galnt7
|
APN |
8 |
57,993,073 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00538:Galnt7
|
APN |
8 |
58,005,556 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00951:Galnt7
|
APN |
8 |
58,036,858 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01662:Galnt7
|
APN |
8 |
57,984,769 (GRCm39) |
splice site |
probably benign |
|
IGL02280:Galnt7
|
APN |
8 |
57,989,824 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02832:Galnt7
|
APN |
8 |
58,005,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02936:Galnt7
|
APN |
8 |
58,037,248 (GRCm39) |
missense |
probably benign |
|
IGL03083:Galnt7
|
APN |
8 |
57,979,223 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03387:Galnt7
|
APN |
8 |
57,979,212 (GRCm39) |
missense |
probably benign |
0.01 |
R0400:Galnt7
|
UTSW |
8 |
58,037,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R0553:Galnt7
|
UTSW |
8 |
58,005,464 (GRCm39) |
splice site |
probably benign |
|
R1463:Galnt7
|
UTSW |
8 |
58,105,892 (GRCm39) |
missense |
probably benign |
|
R1487:Galnt7
|
UTSW |
8 |
57,993,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Galnt7
|
UTSW |
8 |
57,995,564 (GRCm39) |
missense |
probably benign |
0.05 |
R1817:Galnt7
|
UTSW |
8 |
57,991,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Galnt7
|
UTSW |
8 |
57,985,748 (GRCm39) |
missense |
probably benign |
0.13 |
R3855:Galnt7
|
UTSW |
8 |
57,985,658 (GRCm39) |
splice site |
probably benign |
|
R3856:Galnt7
|
UTSW |
8 |
57,985,658 (GRCm39) |
splice site |
probably benign |
|
R4232:Galnt7
|
UTSW |
8 |
58,106,000 (GRCm39) |
missense |
probably benign |
|
R4396:Galnt7
|
UTSW |
8 |
57,991,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Galnt7
|
UTSW |
8 |
58,005,606 (GRCm39) |
nonsense |
probably null |
|
R4610:Galnt7
|
UTSW |
8 |
57,998,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R4745:Galnt7
|
UTSW |
8 |
57,995,761 (GRCm39) |
intron |
probably benign |
|
R4794:Galnt7
|
UTSW |
8 |
57,998,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R5014:Galnt7
|
UTSW |
8 |
57,998,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5177:Galnt7
|
UTSW |
8 |
58,037,061 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5682:Galnt7
|
UTSW |
8 |
58,036,967 (GRCm39) |
nonsense |
probably null |
|
R6122:Galnt7
|
UTSW |
8 |
57,979,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R6276:Galnt7
|
UTSW |
8 |
57,989,612 (GRCm39) |
splice site |
probably null |
|
R6684:Galnt7
|
UTSW |
8 |
57,991,143 (GRCm39) |
missense |
probably benign |
0.16 |
R6752:Galnt7
|
UTSW |
8 |
58,105,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Galnt7
|
UTSW |
8 |
58,037,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7491:Galnt7
|
UTSW |
8 |
58,005,552 (GRCm39) |
missense |
probably damaging |
0.97 |
R7547:Galnt7
|
UTSW |
8 |
58,036,996 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8093:Galnt7
|
UTSW |
8 |
57,985,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8221:Galnt7
|
UTSW |
8 |
58,005,600 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8248:Galnt7
|
UTSW |
8 |
57,991,222 (GRCm39) |
missense |
probably benign |
0.34 |
R8402:Galnt7
|
UTSW |
8 |
57,995,953 (GRCm39) |
missense |
probably damaging |
0.98 |
R8779:Galnt7
|
UTSW |
8 |
58,037,245 (GRCm39) |
missense |
probably benign |
|
R8894:Galnt7
|
UTSW |
8 |
57,979,176 (GRCm39) |
nonsense |
probably null |
|
R8974:Galnt7
|
UTSW |
8 |
58,105,934 (GRCm39) |
missense |
|
|
R9106:Galnt7
|
UTSW |
8 |
57,985,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R9297:Galnt7
|
UTSW |
8 |
57,995,555 (GRCm39) |
missense |
probably damaging |
0.98 |
X0050:Galnt7
|
UTSW |
8 |
58,005,478 (GRCm39) |
frame shift |
probably null |
|
X0062:Galnt7
|
UTSW |
8 |
58,036,942 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2012-12-06 |