Incidental Mutation 'R1980:Galnt5'
| ID |
222102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
039992-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 57914735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
[ENSMUST00000166729]
|
| AlphaFold |
Q8C102 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112616
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
| 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 |
noncoding transcript
Transcript: ENSMUST00000144671
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166729
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166729
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
C |
11: 100,386,702 (GRCm39) |
I620S |
possibly damaging |
Het |
| Acot8 |
A |
G |
2: 164,636,964 (GRCm39) |
F262S |
probably damaging |
Het |
| Adgb |
C |
T |
10: 10,309,242 (GRCm39) |
V246I |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,022,771 (GRCm39) |
M1200K |
probably damaging |
Het |
| Alg11 |
T |
A |
8: 22,551,903 (GRCm39) |
F16I |
possibly damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,244 (GRCm39) |
V234A |
probably benign |
Het |
| Arhgap19 |
T |
G |
19: 41,776,784 (GRCm39) |
I122L |
possibly damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,641,767 (GRCm39) |
S201P |
probably damaging |
Het |
| Asgr1 |
A |
T |
11: 69,945,772 (GRCm39) |
D16V |
probably damaging |
Het |
| Camta2 |
A |
T |
11: 70,573,308 (GRCm39) |
C227S |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,572,658 (GRCm39) |
L317Q |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,386,112 (GRCm39) |
I2056K |
probably benign |
Het |
| Cenpi |
T |
A |
X: 133,218,782 (GRCm39) |
F161L |
possibly damaging |
Het |
| Ciapin1 |
C |
T |
8: 95,559,161 (GRCm39) |
V43I |
probably benign |
Het |
| Cox5b-ps |
T |
G |
13: 21,685,294 (GRCm39) |
T99P |
possibly damaging |
Het |
| Dach1 |
A |
G |
14: 98,068,777 (GRCm39) |
L601P |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,455,734 (GRCm39) |
L711Q |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,471,707 (GRCm39) |
N653I |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
| Gemin5 |
A |
G |
11: 58,027,743 (GRCm39) |
L935P |
probably damaging |
Het |
| Gm9507 |
A |
T |
10: 77,647,519 (GRCm39) |
C53* |
probably null |
Het |
| Irgm2 |
A |
G |
11: 58,110,902 (GRCm39) |
I198V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klf12 |
A |
C |
14: 100,387,162 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,480,451 (GRCm39) |
P73L |
probably damaging |
Het |
| Lrrc34 |
G |
A |
3: 30,696,890 (GRCm39) |
H127Y |
probably benign |
Het |
| Lyar |
T |
C |
5: 38,382,053 (GRCm39) |
S12P |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 52,011,473 (GRCm39) |
I31T |
unknown |
Het |
| Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
| Minar2 |
T |
A |
18: 59,208,739 (GRCm39) |
M129K |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,840,450 (GRCm39) |
N655K |
probably benign |
Het |
| Npnt |
T |
C |
3: 132,653,893 (GRCm39) |
I29M |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,395,746 (GRCm39) |
W137R |
probably benign |
Het |
| Numb |
C |
T |
12: 83,844,118 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
G |
1: 75,482,480 (GRCm39) |
F130S |
probably damaging |
Het |
| Or2h1 |
T |
G |
17: 37,404,295 (GRCm39) |
Q157P |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
| Pbx4 |
T |
C |
8: 70,322,776 (GRCm39) |
V294A |
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,664,312 (GRCm39) |
L524R |
possibly damaging |
Het |
| Plppr1 |
G |
A |
4: 49,337,655 (GRCm39) |
A319T |
probably benign |
Het |
| Ppid |
A |
T |
3: 79,500,925 (GRCm39) |
I32F |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,991,261 (GRCm39) |
E291G |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,782,615 (GRCm39) |
K923N |
possibly damaging |
Het |
| Rab25 |
T |
C |
3: 88,450,765 (GRCm39) |
T45A |
probably damaging |
Het |
| Rapgef1 |
C |
T |
2: 29,612,239 (GRCm39) |
P630S |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,452,821 (GRCm39) |
D355G |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,658,634 (GRCm39) |
E929D |
probably benign |
Het |
| Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
| Slk |
T |
G |
19: 47,600,428 (GRCm39) |
I151S |
probably damaging |
Het |
| Spin1 |
T |
A |
13: 51,298,506 (GRCm39) |
V175D |
probably damaging |
Het |
| Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
| Tmem151b |
G |
C |
17: 45,856,387 (GRCm39) |
P351R |
possibly damaging |
Het |
| Tmod1 |
A |
C |
4: 46,061,043 (GRCm39) |
Y10S |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,858,182 (GRCm39) |
Y225H |
possibly damaging |
Het |
| Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
| Tyro3 |
A |
G |
2: 119,639,298 (GRCm39) |
D335G |
probably benign |
Het |
| Unc79 |
C |
A |
12: 102,977,538 (GRCm39) |
Y180* |
probably null |
Het |
| Upp1 |
A |
T |
11: 9,084,872 (GRCm39) |
D197V |
possibly damaging |
Het |
| Vmn1r226 |
T |
A |
17: 20,908,308 (GRCm39) |
M180K |
possibly damaging |
Het |
| Vtn |
T |
A |
11: 78,392,724 (GRCm39) |
I434N |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp819 |
A |
G |
7: 43,265,885 (GRCm39) |
T47A |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,123,127 (GRCm39) |
T280I |
probably damaging |
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 |
|
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 |
|
R6805:Galnt5
|
UTSW |
2 |
57,925,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- ATGCACTTGCCATATTGTACTG -3'
(R):5'- TTCAACTGACCAGCAAAGGG -3'
Sequencing Primer
(F):5'- ACTTGCCATATTGTACTGAATTTTCC -3'
(R):5'- AATTAGCAGTTGGGGTTACTAGCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation