Incidental Mutation 'R6106:Galnt1'
| ID |
485532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt1
|
| Ensembl Gene |
ENSMUSG00000000420 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 1 |
| Synonyms |
ppGaNTase-T1 |
| MMRRC Submission |
044256-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R6106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24338401-24419873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24387720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 154
(V154I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000430]
[ENSMUST00000164998]
[ENSMUST00000170243]
[ENSMUST00000171583]
[ENSMUST00000178605]
|
| AlphaFold |
O08912 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000430
AA Change: V154I
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: V154I
| 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: ENSMUST00000163185
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164066
|
| SMART Domains |
Protein: ENSMUSP00000130238
Gene: ENSMUSG00000000420
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2D7R|A
|
2 |
44 |
6e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164998
|
| SMART Domains |
Protein: ENSMUSP00000132411
Gene: ENSMUSG00000000420
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
PDB:1XHB|A
|
88 |
142 |
1e-30 |
PDB |
|
SCOP:d1qg8a_
|
116 |
141 |
6e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170243
AA Change: V154I
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: V154I
| 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 |
probably benign
Transcript: ENSMUST00000171583
|
| SMART Domains |
Protein: ENSMUSP00000131755
Gene: ENSMUSG00000000420
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178605
AA Change: V154I
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: V154I
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
| Bfsp2 |
T |
A |
9: 103,357,023 (GRCm39) |
T135S |
probably benign |
Het |
| Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
| Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
| Cept1 |
A |
T |
3: 106,410,992 (GRCm39) |
H400Q |
probably benign |
Het |
| Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
| Gstcd |
C |
A |
3: 132,704,675 (GRCm39) |
E526D |
probably benign |
Het |
| Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
| Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,091 (GRCm39) |
F225Y |
possibly damaging |
Het |
| Setdb2 |
T |
A |
14: 59,660,898 (GRCm39) |
K82* |
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
| Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
| Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
| Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
| Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
| Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
| Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
probably benign |
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 |
|
IGL02373:Galnt1
|
APN |
18 |
24,413,092 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAAGGCGTTTGCTTTGTCTC -3'
(R):5'- GCTTTCCACGGAGAAAATTCTAAC -3'
Sequencing Primer
(F):5'- CTAGGTGTAAAACAAAGGTGTATCC -3'
(R):5'- TCCCATTAAGATTAAGATGCAGCAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation