Incidental Mutation 'R6441:Galnt4'
ID |
519026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt4
|
Ensembl Gene |
ENSMUSG00000090035 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 4 |
Synonyms |
ppGaNTase-T4 |
MMRRC Submission |
044579-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
98944021-98949109 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98945960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 562
(M562V)
|
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 |
possibly damaging
Transcript: ENSMUST00000161240
AA Change: M562V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125315 Gene: ENSMUSG00000090035 AA Change: M562V
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 |
0.1749 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
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. 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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,565,108 (GRCm39) |
M1047K |
probably benign |
Het |
Apob |
A |
T |
12: 8,037,796 (GRCm39) |
D322V |
probably damaging |
Het |
Capn12 |
T |
A |
7: 28,587,427 (GRCm39) |
C438S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,143,815 (GRCm39) |
V2932E |
probably damaging |
Het |
Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
Cimap1a |
T |
C |
7: 140,429,161 (GRCm39) |
S149P |
probably damaging |
Het |
CN725425 |
T |
C |
15: 91,120,005 (GRCm39) |
V42A |
probably benign |
Het |
Cpb1 |
T |
C |
3: 20,303,978 (GRCm39) |
D362G |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,288,757 (GRCm39) |
Q1099K |
probably benign |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Gtf3c3 |
T |
A |
1: 54,445,197 (GRCm39) |
E619V |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,700,759 (GRCm39) |
M585K |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
Lonrf2 |
T |
C |
1: 38,857,204 (GRCm39) |
E44G |
possibly damaging |
Het |
Lrit3 |
A |
T |
3: 129,594,009 (GRCm39) |
F189L |
probably benign |
Het |
Mag |
T |
C |
7: 30,606,508 (GRCm39) |
N310D |
possibly damaging |
Het |
Mccc2 |
T |
C |
13: 100,091,184 (GRCm39) |
T151A |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,389,139 (GRCm39) |
S49T |
probably benign |
Het |
Myh2 |
A |
G |
11: 67,085,437 (GRCm39) |
E1787G |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,974,712 (GRCm39) |
D728G |
probably benign |
Het |
Nup37 |
A |
G |
10: 87,996,799 (GRCm39) |
E139G |
probably benign |
Het |
Or52h9 |
C |
T |
7: 104,202,542 (GRCm39) |
Q139* |
probably null |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,138 (GRCm39) |
Y311C |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Rbm44 |
A |
T |
1: 91,084,799 (GRCm39) |
N674Y |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,759,120 (GRCm39) |
I3353V |
possibly damaging |
Het |
Sema3c |
C |
T |
5: 17,929,130 (GRCm39) |
T588I |
possibly damaging |
Het |
Sh2d5 |
A |
T |
4: 137,986,393 (GRCm39) |
E372V |
possibly damaging |
Het |
Slc27a6 |
C |
T |
18: 58,705,130 (GRCm39) |
P171S |
probably benign |
Het |
Slfn3 |
C |
T |
11: 83,105,740 (GRCm39) |
T579I |
probably benign |
Het |
Svil |
T |
G |
18: 5,049,323 (GRCm39) |
V287G |
probably benign |
Het |
Tas1r2 |
T |
A |
4: 139,396,467 (GRCm39) |
V602D |
probably damaging |
Het |
Tln2 |
A |
G |
9: 67,179,971 (GRCm39) |
L800P |
probably damaging |
Het |
Trim31 |
C |
A |
17: 37,218,683 (GRCm39) |
Q323K |
possibly damaging |
Het |
Txndc9 |
T |
A |
1: 38,029,299 (GRCm39) |
D183V |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,474 (GRCm39) |
M258L |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,820,784 (GRCm39) |
I50N |
probably damaging |
Het |
Zgrf1 |
A |
T |
3: 127,381,683 (GRCm39) |
N1161Y |
possibly damaging |
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 |
R0041:Galnt4
|
UTSW |
10 |
98,944,374 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
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'- GAATTATGTGCAGAGGTCCCC -3'
(R):5'- CTGTGTACCCAGCTTCAGAG -3'
Sequencing Primer
(F):5'- GTCCCCCAACAAAAGGATTATGTAGG -3'
(R):5'- GCTTCAGAGTGATATCCCCAGATG -3'
|
Posted On |
2018-05-24 |