Incidental Mutation 'IGL03083:Galnt7'
| ID |
417955 |
| 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 # |
IGL03083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
57976862-58106066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57979223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 633
(H633Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034021]
[ENSMUST00000110316]
|
| AlphaFold |
Q80VA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034021
AA Change: H633Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: H633Q
| 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 damaging
Transcript: ENSMUST00000110316
AA Change: H633Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: H633Q
| 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
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,932,261 (GRCm39) |
|
probably null |
Het |
| Acadsb |
A |
C |
7: 131,042,922 (GRCm39) |
|
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,333,166 (GRCm39) |
L106P |
probably benign |
Het |
| Ankrd24 |
G |
A |
10: 81,474,483 (GRCm39) |
A72T |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,852,193 (GRCm39) |
I659M |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,742,683 (GRCm39) |
D170G |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,441,936 (GRCm39) |
K711E |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,174,466 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,914,548 (GRCm39) |
|
probably null |
Het |
| Efhb |
A |
T |
17: 53,706,087 (GRCm39) |
W817R |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,881,286 (GRCm39) |
|
probably benign |
Het |
| Fgf8 |
T |
C |
19: 45,725,667 (GRCm39) |
N137S |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,521,576 (GRCm39) |
D533G |
probably benign |
Het |
| Fshb |
A |
G |
2: 106,887,812 (GRCm39) |
V69A |
probably benign |
Het |
| Gm5458 |
A |
G |
14: 19,652,451 (GRCm39) |
|
probably null |
Het |
| Hjv |
T |
A |
3: 96,435,922 (GRCm39) |
D393E |
probably benign |
Het |
| Hpca |
A |
C |
4: 129,012,319 (GRCm39) |
F72L |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,638,863 (GRCm39) |
D552V |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,671,876 (GRCm39) |
Q967* |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,288,937 (GRCm39) |
V497A |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,705,471 (GRCm39) |
K132R |
probably damaging |
Het |
| Mib1 |
T |
G |
18: 10,752,029 (GRCm39) |
|
probably null |
Het |
| Mios |
T |
A |
6: 8,215,156 (GRCm39) |
N117K |
probably damaging |
Het |
| Nab1 |
T |
C |
1: 52,529,429 (GRCm39) |
D156G |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,698,005 (GRCm39) |
|
probably benign |
Het |
| Nutm2 |
G |
A |
13: 50,621,480 (GRCm39) |
G15E |
probably damaging |
Het |
| Oca2 |
A |
G |
7: 55,945,232 (GRCm39) |
H280R |
probably benign |
Het |
| Or10al2 |
C |
A |
17: 37,983,551 (GRCm39) |
C212* |
probably null |
Het |
| Or4d1 |
T |
C |
11: 87,804,914 (GRCm39) |
I273V |
probably benign |
Het |
| P2ry1 |
A |
G |
3: 60,911,736 (GRCm39) |
T292A |
probably benign |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,020,369 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,271,445 (GRCm39) |
E376G |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,635,872 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
T |
10: 79,893,368 (GRCm39) |
M1311K |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 55,992,228 (GRCm39) |
N701S |
probably benign |
Het |
| Sirpa |
T |
A |
2: 129,471,848 (GRCm39) |
I211N |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,668,562 (GRCm39) |
E735G |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,302,820 (GRCm39) |
M790I |
probably damaging |
Het |
| Sult1e1 |
T |
A |
5: 87,737,983 (GRCm39) |
M33L |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,191 (GRCm39) |
|
probably null |
Het |
| Top1 |
A |
G |
2: 160,545,498 (GRCm39) |
T289A |
probably damaging |
Het |
| Trim58 |
T |
A |
11: 58,542,216 (GRCm39) |
M392K |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,770,945 (GRCm39) |
I371V |
probably benign |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,854 (GRCm39) |
I256T |
possibly damaging |
Het |
| Wdr19 |
T |
C |
5: 65,388,319 (GRCm39) |
I668T |
probably benign |
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 |
|
IGL00826:Galnt7
|
APN |
8 |
57,993,105 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation