Incidental Mutation 'R2349:Galnt1'
ID |
247410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt1
|
Ensembl Gene |
ENSMUSG00000000420 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 1 |
Synonyms |
ppGaNTase-T1 |
MMRRC Submission |
040331-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.893)
|
Stock # |
R2349 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24338401-24419873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24413085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 462
(M462V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000430]
[ENSMUST00000170243]
[ENSMUST00000178605]
|
AlphaFold |
O08912 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000430
AA Change: M462V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000000430 Gene: ENSMUSG00000000420 AA Change: M462V
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 |
probably benign
Transcript: ENSMUST00000170243
AA Change: M462V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000132142 Gene: ENSMUSG00000000420 AA Change: M462V
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: ENSMUST00000178605
AA Change: M462V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000137427 Gene: ENSMUSG00000000420 AA Change: M462V
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 |
|
Meta Mutation Damage Score |
0.0848 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (34/34) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGAGTGGGCCCTAAGTCCA -3'
(R):5'- CTAAGACTGCCCCTTTGTCC -3'
Sequencing Primer
(F):5'- CTTCATTGCCCCACAGATA -3'
(R):5'- CAGAGCTCTGGAACTCTGGTG -3'
|
Posted On |
2014-11-11 |