Incidental Mutation 'IGL00951:Galnt7'
| ID |
28044 |
| 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 # |
IGL00951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
57976862-58106066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58036858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 177
(M177K)
|
| 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: M177K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: M177K
| 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: M177K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: M177K
| 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: 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
C |
A |
9: 99,387,757 (GRCm39) |
R388L |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,901,481 (GRCm39) |
E407G |
probably damaging |
Het |
| Brms1l |
A |
G |
12: 55,912,834 (GRCm39) |
I276V |
possibly damaging |
Het |
| Brpf1 |
C |
A |
6: 113,299,514 (GRCm39) |
D1182E |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,400,467 (GRCm39) |
M268V |
probably benign |
Het |
| Cpne8 |
A |
T |
15: 90,486,096 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
T |
9: 35,464,131 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
G |
6: 36,977,094 (GRCm39) |
M672T |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,371,620 (GRCm39) |
T112A |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hp |
T |
C |
8: 110,304,129 (GRCm39) |
D24G |
possibly damaging |
Het |
| Jak2 |
A |
G |
19: 29,276,983 (GRCm39) |
R847G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,906,281 (GRCm39) |
D2391E |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,433,391 (GRCm39) |
F87L |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,532,285 (GRCm39) |
I144F |
probably benign |
Het |
| Or5h18 |
G |
A |
16: 58,848,216 (GRCm39) |
T18I |
probably benign |
Het |
| Or5h23 |
A |
C |
16: 58,906,756 (GRCm39) |
L30R |
possibly damaging |
Het |
| Or5i1 |
A |
T |
2: 87,612,883 (GRCm39) |
I2F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Or6d14 |
G |
A |
6: 116,534,027 (GRCm39) |
V214I |
probably benign |
Het |
| Prr16 |
A |
G |
18: 51,436,411 (GRCm39) |
R297G |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,163,614 (GRCm39) |
L148V |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,858,992 (GRCm39) |
D150G |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,559,512 (GRCm39) |
V64D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,019,348 (GRCm39) |
Y742H |
probably damaging |
Het |
| Rpl7a |
A |
G |
2: 26,802,441 (GRCm39) |
D160G |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,705,568 (GRCm39) |
M461V |
possibly damaging |
Het |
| Tagln |
T |
A |
9: 45,842,170 (GRCm39) |
N141I |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,913 (GRCm39) |
R248* |
probably null |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,270 (GRCm39) |
C384R |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,662 (GRCm39) |
E144D |
probably benign |
Het |
| Vkorc1l1 |
C |
T |
5: 130,011,108 (GRCm39) |
T144I |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,836,505 (GRCm39) |
F17S |
probably damaging |
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation