Incidental Mutation 'R8402:Galnt7'
| ID |
652235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt7
|
| Ensembl Gene |
ENSMUSG00000031608 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 7 |
| Synonyms |
ppGaNTase-T7 |
| MMRRC Submission |
067878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.830)
|
| Stock # |
R8402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
57976862-58106066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57995953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 355
(A355V)
|
| 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 damaging
Transcript: ENSMUST00000110316
AA Change: A355V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: A355V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (36/36) |
| 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 |
|---|
| Adamts12 |
A |
T |
15: 11,263,376 (GRCm39) |
K579N |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,035,363 (GRCm39) |
V89A |
probably benign |
Het |
| Anapc1 |
G |
A |
2: 128,472,148 (GRCm39) |
S1458L |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,508,949 (GRCm39) |
Y325C |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,688,467 (GRCm39) |
Y437C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,413,879 (GRCm39) |
S806T |
probably damaging |
Het |
| Clec2m |
T |
A |
6: 129,300,007 (GRCm39) |
D157V |
possibly damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,888 (GRCm39) |
T85A |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,011,393 (GRCm39) |
W1183* |
probably null |
Het |
| Dmxl1 |
G |
T |
18: 50,011,409 (GRCm39) |
V1189L |
probably benign |
Het |
| Dmxl1 |
G |
C |
18: 50,011,394 (GRCm39) |
D1184H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,116,197 (GRCm39) |
D820G |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,750,972 (GRCm39) |
S289P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,378,131 (GRCm39) |
W116R |
probably damaging |
Het |
| Klk1b5 |
T |
G |
7: 43,867,962 (GRCm39) |
F45V |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,103,185 (GRCm39) |
V661A |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,750 (GRCm39) |
N517S |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,716 (GRCm39) |
I145M |
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,713 (GRCm39) |
Y118F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,904,715 (GRCm39) |
F368L |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,164,440 (GRCm39) |
V417E |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,385 (GRCm39) |
A1375E |
probably benign |
Het |
| Rps24 |
G |
T |
14: 24,540,829 (GRCm39) |
|
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,949 (GRCm39) |
N259D |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,073,037 (GRCm39) |
N628K |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,351,774 (GRCm39) |
L177Q |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,177,731 (GRCm39) |
L508Q |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,946,359 (GRCm39) |
S360P |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,424,718 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,178,617 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,204,879 (GRCm39) |
E121G |
probably damaging |
Het |
| Zfp607b |
T |
A |
7: 27,402,127 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zfp729b |
G |
A |
13: 67,740,696 (GRCm39) |
P523L |
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 |
|
|
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 |
|
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'- TGGAAACATGTATGGACCCAC -3'
(R):5'- GTTTTCCTAATACAGAGTGCGACC -3'
Sequencing Primer
(F):5'- CCACATAGTTACACGAGTTCATAGGG -3'
(R):5'- TTCCTAATACAGAGTGCGACCAAGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation