Incidental Mutation 'R3855:Galnt7'
| ID |
276115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt7
|
| Ensembl Gene |
ENSMUSG00000031608 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 7 |
| Synonyms |
ppGaNTase-T7 |
| MMRRC Submission |
040901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.830)
|
| Stock # |
R3855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
57976862-58106066 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 57985658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034021]
[ENSMUST00000110316]
|
| AlphaFold |
Q80VA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034021
|
| SMART Domains |
Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
| 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 benign
Transcript: ENSMUST00000110316
|
| SMART Domains |
Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
| 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 |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,291,705 (GRCm39) |
S1144R |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,765,187 (GRCm39) |
S623P |
unknown |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,013 (GRCm39) |
N159S |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,256,742 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
G |
A |
4: 86,698,084 (GRCm39) |
V191M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,472 (GRCm39) |
H392Q |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,366 (GRCm39) |
V710A |
probably benign |
Het |
| Gm4868 |
A |
G |
5: 125,925,609 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,232,260 (GRCm39) |
E648G |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Itgb3bp |
T |
C |
4: 99,686,957 (GRCm39) |
E76G |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,084,401 (GRCm39) |
D82G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,018,821 (GRCm39) |
S533G |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,796 (GRCm39) |
|
probably benign |
Het |
| Kmt5c |
T |
C |
7: 4,749,255 (GRCm39) |
F104S |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,329,415 (GRCm39) |
I120N |
possibly damaging |
Het |
| Nfia |
A |
G |
4: 97,951,259 (GRCm39) |
H362R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nme5 |
A |
G |
18: 34,702,884 (GRCm39) |
S135P |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,715 (GRCm39) |
V543A |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,835 (GRCm39) |
I204F |
possibly damaging |
Het |
| Or2y10 |
A |
G |
11: 49,454,918 (GRCm39) |
T57A |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,923,184 (GRCm39) |
S1020P |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,659,228 (GRCm39) |
H814R |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,915,047 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,705,928 (GRCm39) |
I711F |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,579,719 (GRCm39) |
V418I |
unknown |
Het |
| Prg4 |
T |
C |
1: 150,327,751 (GRCm39) |
Y234C |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sepsecs |
G |
A |
5: 52,821,616 (GRCm39) |
R74C |
probably damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Sox11 |
C |
A |
12: 27,391,501 (GRCm39) |
G303C |
probably damaging |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
| Xylt1 |
T |
G |
7: 117,192,777 (GRCm39) |
L361R |
probably damaging |
Het |
| Zfp512 |
A |
G |
5: 31,637,593 (GRCm39) |
R505G |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGCAGACATTTCTACATTTCC -3'
(R):5'- CTTGGAAGTCTCACACTCGG -3'
Sequencing Primer
(F):5'- TCTATAAGGAAGTCTTGGCACCC -3'
(R):5'- GGTGCTGGCTTGTTACAAACCATAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation