Incidental Mutation 'R6805:Galnt5'
| ID |
533514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
044918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57925311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 864
(D864V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
| AlphaFold |
Q8C102 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112616
AA Change: D864V
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: D864V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
489 |
672 |
1.3e-33 |
PFAM |
|
Pfam:Glyco_transf_7C
|
653 |
718 |
1.9e-8 |
PFAM |
|
RICIN
|
801 |
925 |
1.36e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166729
AA Change: D864V
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: D864V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
489 |
672 |
2.1e-30 |
PFAM |
|
Pfam:Glyco_transf_7C
|
652 |
718 |
7e-8 |
PFAM |
|
RICIN
|
801 |
925 |
1.36e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.3990 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,946,744 (GRCm39) |
T214A |
possibly damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Aadac |
A |
C |
3: 59,944,757 (GRCm39) |
D143A |
probably benign |
Het |
| Acot10 |
T |
G |
15: 20,665,452 (GRCm39) |
T430P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,253 (GRCm39) |
T197A |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,950,643 (GRCm39) |
I200T |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,467,103 (GRCm38) |
A943V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,838,673 (GRCm39) |
E48G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,724,428 (GRCm39) |
C211S |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,890,073 (GRCm39) |
L1429P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,790 (GRCm39) |
V2591A |
probably benign |
Het |
| Cul2 |
T |
G |
18: 3,421,263 (GRCm39) |
Y196D |
probably damaging |
Het |
| D630023F18Rik |
T |
C |
1: 65,156,365 (GRCm39) |
S43G |
probably benign |
Het |
| Ddx39a |
G |
A |
8: 84,449,766 (GRCm39) |
R427Q |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,691 (GRCm39) |
T285A |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,789 (GRCm39) |
D88E |
probably benign |
Het |
| Defb6 |
A |
G |
8: 19,278,117 (GRCm39) |
K63R |
probably benign |
Het |
| Dnph1 |
T |
C |
17: 46,809,670 (GRCm39) |
S112P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,564,407 (GRCm39) |
I467L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,323,716 (GRCm39) |
H286Q |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,253,501 (GRCm39) |
T459S |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,719,049 (GRCm39) |
L385P |
probably damaging |
Het |
| Fbxw21 |
C |
A |
9: 108,986,633 (GRCm39) |
R82L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,437 (GRCm39) |
V2048A |
probably benign |
Het |
| Gata6 |
T |
G |
18: 11,054,460 (GRCm39) |
S130A |
possibly damaging |
Het |
| Gbf1 |
G |
T |
19: 46,250,946 (GRCm39) |
R434L |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,476,588 (GRCm39) |
F709L |
probably damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,193 (GRCm39) |
V166A |
probably benign |
Het |
| Hexa |
T |
A |
9: 59,471,220 (GRCm39) |
N491K |
possibly damaging |
Het |
| Hpse2 |
A |
T |
19: 43,282,760 (GRCm39) |
C164* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,802,555 (GRCm39) |
Y93C |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,396,804 (GRCm39) |
K192E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,913,304 (GRCm39) |
I79N |
probably damaging |
Het |
| Jmjd7 |
T |
A |
2: 119,861,804 (GRCm39) |
Y182* |
probably null |
Het |
| Jup |
A |
T |
11: 100,274,284 (GRCm39) |
D135E |
probably benign |
Het |
| Kit |
T |
A |
5: 75,813,468 (GRCm39) |
I881N |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,593,691 (GRCm39) |
S55T |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,435,724 (GRCm39) |
M653I |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,711,517 (GRCm39) |
Y307H |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,622 (GRCm39) |
M1914K |
possibly damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,230,537 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,849 (GRCm39) |
S439P |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,262 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
G |
T |
9: 18,946,597 (GRCm39) |
M59I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,729,026 (GRCm39) |
|
probably null |
Het |
| Phf12 |
G |
A |
11: 77,918,199 (GRCm39) |
G804R |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,074 (GRCm39) |
T234A |
|
Het |
| Prune2 |
A |
T |
19: 17,097,954 (GRCm39) |
I1153L |
probably benign |
Het |
| Ptprc |
C |
T |
1: 137,995,623 (GRCm39) |
|
probably null |
Het |
| Qpctl |
T |
C |
7: 18,883,079 (GRCm39) |
Q11R |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,092 (GRCm39) |
K103E |
possibly damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,806 (GRCm39) |
|
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,659,770 (GRCm39) |
A181D |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,398 (GRCm39) |
V475A |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,571 (GRCm39) |
T263A |
possibly damaging |
Het |
| Tex24 |
A |
T |
8: 27,835,028 (GRCm39) |
K185N |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,917,127 (GRCm39) |
V2174E |
possibly damaging |
Het |
| Tollip |
A |
G |
7: 141,444,582 (GRCm39) |
S57P |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,370,585 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,580,650 (GRCm39) |
T30A |
probably benign |
Het |
|
| Other mutations in Galnt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Galnt5
|
APN |
2 |
57,888,985 (GRCm39) |
missense |
probably benign |
|
|
IGL00515:Galnt5
|
APN |
2 |
57,889,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00950:Galnt5
|
APN |
2 |
57,889,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00973:Galnt5
|
APN |
2 |
57,888,951 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01152:Galnt5
|
APN |
2 |
57,915,405 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01305:Galnt5
|
APN |
2 |
57,915,354 (GRCm39) |
nonsense |
probably null |
|
|
IGL01661:Galnt5
|
APN |
2 |
57,889,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01719:Galnt5
|
APN |
2 |
57,888,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Galnt5
|
APN |
2 |
57,888,877 (GRCm39) |
missense |
probably benign |
|
|
IGL02795:Galnt5
|
APN |
2 |
57,917,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Galnt5
|
APN |
2 |
57,889,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Galnt5
|
APN |
2 |
57,889,401 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
ANU22:Galnt5
|
UTSW |
2 |
57,915,354 (GRCm39) |
nonsense |
probably null |
|
|
R0082:Galnt5
|
UTSW |
2 |
57,889,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0113:Galnt5
|
UTSW |
2 |
57,888,889 (GRCm39) |
missense |
probably benign |
|
|
R0445:Galnt5
|
UTSW |
2 |
57,888,962 (GRCm39) |
missense |
probably benign |
|
|
R0517:Galnt5
|
UTSW |
2 |
57,925,385 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Galnt5
|
UTSW |
2 |
57,914,637 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0639:Galnt5
|
UTSW |
2 |
57,889,407 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0646:Galnt5
|
UTSW |
2 |
57,889,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0677:Galnt5
|
UTSW |
2 |
57,888,992 (GRCm39) |
nonsense |
probably null |
|
|
R1808:Galnt5
|
UTSW |
2 |
57,916,137 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1927:Galnt5
|
UTSW |
2 |
57,888,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1980:Galnt5
|
UTSW |
2 |
57,914,735 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2517:Galnt5
|
UTSW |
2 |
57,889,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4044:Galnt5
|
UTSW |
2 |
57,888,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Galnt5
|
UTSW |
2 |
57,888,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Galnt5
|
UTSW |
2 |
57,889,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4703:Galnt5
|
UTSW |
2 |
57,888,919 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4767:Galnt5
|
UTSW |
2 |
57,918,156 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5118:Galnt5
|
UTSW |
2 |
57,905,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Galnt5
|
UTSW |
2 |
57,915,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5506:Galnt5
|
UTSW |
2 |
57,889,637 (GRCm39) |
missense |
probably benign |
|
|
R5548:Galnt5
|
UTSW |
2 |
57,904,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5758:Galnt5
|
UTSW |
2 |
57,888,442 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5937:Galnt5
|
UTSW |
2 |
57,928,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6237:Galnt5
|
UTSW |
2 |
57,925,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6959:Galnt5
|
UTSW |
2 |
57,889,231 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7070:Galnt5
|
UTSW |
2 |
57,888,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Galnt5
|
UTSW |
2 |
57,888,621 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7347:Galnt5
|
UTSW |
2 |
57,907,205 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7419:Galnt5
|
UTSW |
2 |
57,904,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Galnt5
|
UTSW |
2 |
57,907,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Galnt5
|
UTSW |
2 |
57,916,048 (GRCm39) |
splice site |
probably null |
|
|
R7539:Galnt5
|
UTSW |
2 |
57,925,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7623:Galnt5
|
UTSW |
2 |
57,907,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8135:Galnt5
|
UTSW |
2 |
57,904,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Galnt5
|
UTSW |
2 |
57,889,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8544:Galnt5
|
UTSW |
2 |
57,907,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Galnt5
|
UTSW |
2 |
57,925,220 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9747:Galnt5
|
UTSW |
2 |
57,889,477 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTTCGCATGGTCTCAC -3'
(R):5'- TGGTCTTTATACCCTTGAGTGAAAC -3'
Sequencing Primer
(F):5'- GGTCTCACCTATTGCTGATAAAAGG -3'
(R):5'- AAACTTCACACTATCTCTGTTGTTAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation