Incidental Mutation 'R5506:Galnt5'
| ID |
430904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
043067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57889637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 412
(H412Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
| AlphaFold |
Q8C102 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112616
AA Change: H412Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: H412Q
| 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 benign
Transcript: ENSMUST00000166729
AA Change: H412Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: H412Q
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
| Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
| Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
| Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
| Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
| Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
| Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
| H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
| Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
| Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
| Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
| Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
| Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
| Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
|
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 |
|
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'- CCTAAATTACTGGGTGGAAGTCC -3'
(R):5'- CAGGCCTTGTGTCTTCAATGG -3'
Sequencing Primer
(F):5'- TGGAAGTCCACATAAACAAATCC -3'
(R):5'- GGCTCTGTCCACTGGAATCAAATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation