Incidental Mutation 'IGL02373:Galnt1'
| ID |
290996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt1
|
| Ensembl Gene |
ENSMUSG00000000420 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 1 |
| Synonyms |
ppGaNTase-T1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
IGL02373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
24338401-24419873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24413092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 464
(G464D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000430]
[ENSMUST00000170243]
[ENSMUST00000178605]
|
| AlphaFold |
O08912 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000430
AA Change: G464D
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: G464D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
116 |
369 |
3.2e-11 |
PFAM |
|
Pfam:Glycos_transf_2
|
119 |
303 |
3.1e-40 |
PFAM |
|
Pfam:Glyco_transf_7C
|
281 |
349 |
9.1e-10 |
PFAM |
|
RICIN
|
426 |
551 |
1.25e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170191
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170243
AA Change: G464D
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: G464D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
116 |
369 |
1.7e-12 |
PFAM |
|
Pfam:Glycos_transf_2
|
119 |
303 |
9.2e-37 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
119 |
344 |
7.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
281 |
349 |
1.4e-8 |
PFAM |
|
RICIN
|
426 |
551 |
1.25e-32 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178605
AA Change: G464D
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: G464D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
116 |
369 |
1.7e-12 |
PFAM |
|
Pfam:Glycos_transf_2
|
119 |
303 |
9.2e-37 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
119 |
344 |
7.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
281 |
349 |
1.4e-8 |
PFAM |
|
RICIN
|
426 |
551 |
1.25e-32 |
SMART |
|
| 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 a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,168,042 (GRCm39) |
L462F |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,607,832 (GRCm39) |
D4080G |
possibly damaging |
Het |
| Apc |
A |
C |
18: 34,449,212 (GRCm39) |
D2002A |
probably damaging |
Het |
| Apobr |
T |
A |
7: 126,184,563 (GRCm39) |
F25I |
probably damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,378,274 (GRCm39) |
L120* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,780,408 (GRCm39) |
S704P |
probably damaging |
Het |
| Dcst1 |
G |
T |
3: 89,265,198 (GRCm39) |
N217K |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fmn1 |
C |
A |
2: 113,194,471 (GRCm39) |
P57Q |
unknown |
Het |
| Ggcx |
T |
A |
6: 72,404,902 (GRCm39) |
W437R |
probably damaging |
Het |
| Igkv13-54-1 |
T |
C |
6: 69,594,304 (GRCm39) |
|
noncoding transcript |
Het |
| Iglon5 |
T |
C |
7: 43,128,643 (GRCm39) |
E58G |
probably benign |
Het |
| Met |
C |
T |
6: 17,491,528 (GRCm39) |
P97S |
probably damaging |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,880 (GRCm39) |
M52V |
probably benign |
Het |
| Myg1 |
T |
A |
15: 102,245,268 (GRCm39) |
M158K |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,372,453 (GRCm39) |
M131L |
probably benign |
Het |
| Nipa2 |
T |
C |
7: 55,582,876 (GRCm39) |
I290V |
probably benign |
Het |
| Or4f14b |
C |
A |
2: 111,775,178 (GRCm39) |
V208L |
probably benign |
Het |
| Or5p79 |
A |
T |
7: 108,221,310 (GRCm39) |
Y97F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,334 (GRCm39) |
L84S |
probably benign |
Het |
| Ppfia3 |
C |
T |
7: 45,008,273 (GRCm39) |
R48Q |
probably damaging |
Het |
| Rab12 |
A |
G |
17: 66,805,060 (GRCm39) |
L156P |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,726,218 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
C |
2: 130,526,818 (GRCm39) |
N770S |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,372 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,866 (GRCm39) |
R679* |
probably null |
Het |
| Vwa5b2 |
G |
A |
16: 20,423,594 (GRCm39) |
R1169H |
probably damaging |
Het |
|
| Other mutations in Galnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01833:Galnt1
|
APN |
18 |
24,400,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02998:Galnt1
|
APN |
18 |
24,397,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Galnt1
|
APN |
18 |
24,402,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
debonair
|
UTSW |
18 |
24,404,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Galnt1
|
UTSW |
18 |
24,387,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Galnt1
|
UTSW |
18 |
24,387,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Galnt1
|
UTSW |
18 |
24,387,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1183:Galnt1
|
UTSW |
18 |
24,404,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Galnt1
|
UTSW |
18 |
24,404,831 (GRCm39) |
splice site |
probably benign |
|
|
R2349:Galnt1
|
UTSW |
18 |
24,413,085 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3739:Galnt1
|
UTSW |
18 |
24,404,712 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4223:Galnt1
|
UTSW |
18 |
24,371,413 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5001:Galnt1
|
UTSW |
18 |
24,404,812 (GRCm39) |
missense |
probably benign |
|
|
R5410:Galnt1
|
UTSW |
18 |
24,400,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5516:Galnt1
|
UTSW |
18 |
24,413,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5685:Galnt1
|
UTSW |
18 |
24,397,586 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5687:Galnt1
|
UTSW |
18 |
24,405,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5735:Galnt1
|
UTSW |
18 |
24,397,577 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6106:Galnt1
|
UTSW |
18 |
24,387,720 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6222:Galnt1
|
UTSW |
18 |
24,397,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7448:Galnt1
|
UTSW |
18 |
24,417,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7489:Galnt1
|
UTSW |
18 |
24,415,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8310:Galnt1
|
UTSW |
18 |
24,404,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Galnt1
|
UTSW |
18 |
24,400,628 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8884:Galnt1
|
UTSW |
18 |
24,400,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8989:Galnt1
|
UTSW |
18 |
24,402,567 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2015-04-16 |
Incidental Mutation