Incidental Mutation 'R4767:Galnt5'
| ID |
366198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
042408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57918156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 798
(V798E)
|
| 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: V798E
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: V798E
| 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 |
possibly damaging
Transcript: ENSMUST00000166729
AA Change: V798E
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: V798E
| 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 |
0.1329 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
95% (62/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,029,804 (GRCm39) |
|
probably null |
Het |
| Aig1 |
T |
C |
10: 13,677,602 (GRCm39) |
N130S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,861,047 (GRCm39) |
Y160* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 126,902,358 (GRCm39) |
I755T |
probably benign |
Het |
| Apoc3 |
C |
A |
9: 46,145,833 (GRCm39) |
E21* |
probably null |
Het |
| Atp9b |
G |
T |
18: 80,796,285 (GRCm39) |
H919Q |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,622,514 (GRCm39) |
Y555S |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,971,025 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cracr2a |
A |
T |
6: 127,588,470 (GRCm39) |
N210Y |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Csnk1d |
A |
G |
11: 120,859,954 (GRCm39) |
S318P |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,427,751 (GRCm39) |
L384P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,270,620 (GRCm39) |
T974I |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,163,922 (GRCm39) |
Y863C |
possibly damaging |
Het |
| Epg5 |
C |
A |
18: 78,066,498 (GRCm39) |
P2133T |
possibly damaging |
Het |
| Ephb6 |
A |
T |
6: 41,591,119 (GRCm39) |
Q92L |
possibly damaging |
Het |
| Ercc4 |
C |
A |
16: 12,939,959 (GRCm39) |
A73D |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,701,235 (GRCm39) |
Y290F |
probably damaging |
Het |
| Haus4 |
T |
C |
14: 54,786,342 (GRCm39) |
E149G |
probably damaging |
Het |
| Ighv1-13 |
A |
G |
12: 114,594,556 (GRCm39) |
Y86C |
unknown |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,633,620 (GRCm39) |
V1584A |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,358,010 (GRCm39) |
E1119G |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,185 (GRCm39) |
L335P |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,237,550 (GRCm39) |
D375G |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,051,358 (GRCm39) |
I317T |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,558,898 (GRCm39) |
V128I |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,023 (GRCm39) |
D458N |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,335 (GRCm39) |
M1L |
probably benign |
Het |
| Or1o1 |
T |
A |
17: 37,717,091 (GRCm39) |
C217* |
probably null |
Het |
| Or5a1 |
G |
T |
19: 12,097,300 (GRCm39) |
H247N |
probably damaging |
Het |
| Or8g24 |
T |
C |
9: 38,989,988 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,409 (GRCm39) |
C189S |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,005,072 (GRCm39) |
H663R |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,525,705 (GRCm39) |
S377P |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,672,990 (GRCm39) |
D63G |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,474,495 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
C |
A |
9: 107,622,412 (GRCm39) |
W546C |
probably damaging |
Het |
| Rnf123 |
C |
A |
9: 107,929,288 (GRCm39) |
C1257F |
probably damaging |
Het |
| Rnf185 |
A |
G |
11: 3,382,551 (GRCm39) |
S45P |
possibly damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Slfn8 |
G |
A |
11: 82,894,023 (GRCm39) |
A872V |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,151,547 (GRCm39) |
|
probably null |
Het |
| Sox14 |
A |
T |
9: 99,757,686 (GRCm39) |
W18R |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,848,969 (GRCm39) |
E1053G |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,294,866 (GRCm39) |
K1246* |
probably null |
Het |
| Tbrg4 |
A |
C |
11: 6,570,909 (GRCm39) |
S188A |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,279 (GRCm39) |
D196E |
probably damaging |
Het |
| Tmem266 |
C |
T |
9: 55,288,025 (GRCm39) |
T34I |
probably damaging |
Het |
| Tmem59l |
C |
A |
8: 70,938,748 (GRCm39) |
R111L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,306,280 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,643,687 (GRCm39) |
S491P |
probably damaging |
Het |
| Tspan10 |
A |
T |
11: 120,336,992 (GRCm39) |
N254I |
probably damaging |
Het |
| Ubox5 |
A |
T |
2: 130,433,814 (GRCm39) |
L511Q |
probably damaging |
Het |
| Vmn1r183 |
TATCCATC |
TATC |
7: 23,754,531 (GRCm39) |
|
probably null |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,397 (GRCm39) |
C577Y |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,291,606 (GRCm39) |
M53K |
probably benign |
Het |
| Zfp948 |
T |
A |
17: 21,808,569 (GRCm39) |
I587N |
possibly 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 |
|
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'- TGGCTTGATGACTACAGGGAAC -3'
(R):5'- GAAGCCTACATCCTGACATACTTC -3'
Sequencing Primer
(F):5'- GACTACAGGGAACTCTTCTATGGC -3'
(R):5'- CCTGGTCTCTTATGTGCAGTATAG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation