Incidental Mutation 'R0041:Galnt4'
ID |
201495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt4
|
Ensembl Gene |
ENSMUSG00000090035 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 4 |
Synonyms |
ppGaNTase-T4 |
MMRRC Submission |
038335-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0041 (G1)
|
Quality Score |
53 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
98944021-98949109 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98944374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 33
(Y33C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020113]
[ENSMUST00000159228]
[ENSMUST00000159990]
[ENSMUST00000161240]
[ENSMUST00000219884]
|
AlphaFold |
O08832 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020113
|
SMART Domains |
Protein: ENSMUSP00000020113 Gene: ENSMUSG00000019952
Domain | Start | End | E-Value | Type |
WD40
|
7 |
46 |
1.71e-7 |
SMART |
WD40
|
49 |
88 |
8.68e-9 |
SMART |
WD40
|
91 |
130 |
2.71e-10 |
SMART |
WD40
|
133 |
172 |
2.43e-12 |
SMART |
WD40
|
175 |
214 |
2.07e-6 |
SMART |
WD40
|
217 |
256 |
1.71e-7 |
SMART |
WD40
|
259 |
298 |
7.55e-9 |
SMART |
coiled coil region
|
428 |
468 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159228
|
SMART Domains |
Protein: ENSMUSP00000124144 Gene: ENSMUSG00000019952
Domain | Start | End | E-Value | Type |
WD40
|
7 |
46 |
1.71e-7 |
SMART |
WD40
|
49 |
88 |
8.68e-9 |
SMART |
WD40
|
91 |
130 |
2.71e-10 |
SMART |
WD40
|
133 |
172 |
2.43e-12 |
SMART |
WD40
|
175 |
214 |
2.07e-6 |
SMART |
WD40
|
217 |
256 |
1.71e-7 |
SMART |
WD40
|
259 |
298 |
7.55e-9 |
SMART |
coiled coil region
|
401 |
441 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159990
|
SMART Domains |
Protein: ENSMUSP00000125423 Gene: ENSMUSG00000019952
Domain | Start | End | E-Value | Type |
WD40
|
7 |
46 |
8.68e-9 |
SMART |
WD40
|
49 |
88 |
2.71e-10 |
SMART |
WD40
|
91 |
130 |
2.43e-12 |
SMART |
WD40
|
133 |
172 |
2.07e-6 |
SMART |
WD40
|
175 |
214 |
1.71e-7 |
SMART |
WD40
|
217 |
256 |
7.55e-9 |
SMART |
coiled coil region
|
386 |
426 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161240
AA Change: Y33C
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000125315 Gene: ENSMUSG00000090035 AA Change: Y33C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
135 |
382 |
4.7e-10 |
PFAM |
Pfam:Glycos_transf_2
|
138 |
321 |
7.5e-38 |
PFAM |
Pfam:Glyco_tranf_2_2
|
138 |
368 |
1e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
298 |
367 |
4.5e-10 |
PFAM |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
RICIN
|
445 |
577 |
2.39e-29 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219884
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220019
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
97% (58/60) |
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. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010] PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
|
Other mutations in Galnt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Galnt4
|
APN |
10 |
98,945,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Galnt4
|
APN |
10 |
98,945,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01871:Galnt4
|
APN |
10 |
98,945,103 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02146:Galnt4
|
APN |
10 |
98,945,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
3-1:Galnt4
|
UTSW |
10 |
98,945,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1318:Galnt4
|
UTSW |
10 |
98,945,772 (GRCm39) |
missense |
probably damaging |
0.99 |
R1466:Galnt4
|
UTSW |
10 |
98,944,571 (GRCm39) |
missense |
probably benign |
0.43 |
R1466:Galnt4
|
UTSW |
10 |
98,944,571 (GRCm39) |
missense |
probably benign |
0.43 |
R1471:Galnt4
|
UTSW |
10 |
98,944,536 (GRCm39) |
missense |
probably benign |
|
R1633:Galnt4
|
UTSW |
10 |
98,945,814 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2088:Galnt4
|
UTSW |
10 |
98,945,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R2197:Galnt4
|
UTSW |
10 |
98,944,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R2363:Galnt4
|
UTSW |
10 |
98,944,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R2507:Galnt4
|
UTSW |
10 |
98,945,148 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3104:Galnt4
|
UTSW |
10 |
98,945,243 (GRCm39) |
missense |
probably benign |
0.10 |
R3106:Galnt4
|
UTSW |
10 |
98,945,243 (GRCm39) |
missense |
probably benign |
0.10 |
R4599:Galnt4
|
UTSW |
10 |
98,945,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R4670:Galnt4
|
UTSW |
10 |
98,945,160 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4756:Galnt4
|
UTSW |
10 |
98,944,362 (GRCm39) |
missense |
probably benign |
|
R5660:Galnt4
|
UTSW |
10 |
98,945,397 (GRCm39) |
missense |
probably benign |
0.16 |
R5819:Galnt4
|
UTSW |
10 |
98,945,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R6441:Galnt4
|
UTSW |
10 |
98,945,960 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7184:Galnt4
|
UTSW |
10 |
98,944,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R7429:Galnt4
|
UTSW |
10 |
98,945,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7685:Galnt4
|
UTSW |
10 |
98,945,826 (GRCm39) |
missense |
probably benign |
0.00 |
R7788:Galnt4
|
UTSW |
10 |
98,944,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8192:Galnt4
|
UTSW |
10 |
98,945,118 (GRCm39) |
missense |
probably benign |
0.29 |
R8896:Galnt4
|
UTSW |
10 |
98,945,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAAGTGACCCCTGGGAAACTC -3'
(R):5'- CGACCTGTAGTGGAACTTCTTGGC -3'
Sequencing Primer
(F):5'- GAACCTTCTCGGAAGTTCGC -3'
(R):5'- AGTGGAACTTCTTGGCTTTACAC -3'
|
Posted On |
2014-06-13 |