Incidental Mutation 'R5497:Galnt5'
| ID |
432393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
043058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5497 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57915340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 632
(M632T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
| AlphaFold |
Q8C102 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112616
AA Change: M632T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: M632T
| 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 damaging
Transcript: ENSMUST00000166729
AA Change: M632T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: M632T
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,056,360 (GRCm39) |
M800K |
probably benign |
Het |
| Abca9 |
G |
A |
11: 110,021,518 (GRCm39) |
A1064V |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,172,543 (GRCm39) |
T129S |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,831,346 (GRCm39) |
C755S |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,161,723 (GRCm39) |
D2G |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,835,518 (GRCm39) |
A1098V |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,966,533 (GRCm39) |
H537R |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,596,232 (GRCm39) |
C887Y |
probably damaging |
Het |
| Atp6v0a1 |
G |
A |
11: 100,920,011 (GRCm39) |
V215M |
probably damaging |
Het |
| Cacng8 |
A |
G |
7: 3,464,069 (GRCm39) |
E407G |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,447,745 (GRCm39) |
E535K |
probably benign |
Het |
| Cebpe |
A |
G |
14: 54,948,052 (GRCm39) |
F264L |
probably benign |
Het |
| Ces1c |
A |
C |
8: 93,857,343 (GRCm39) |
N79K |
possibly damaging |
Het |
| Cfap58 |
T |
G |
19: 48,017,548 (GRCm39) |
S803A |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,640,729 (GRCm39) |
T124A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,135,195 (GRCm39) |
S1654P |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,665,133 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
T |
C |
15: 43,134,366 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fhip2a |
G |
C |
19: 57,369,583 (GRCm39) |
|
probably null |
Het |
| Gja8 |
A |
G |
3: 96,827,513 (GRCm39) |
S50P |
probably damaging |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,187,133 (GRCm39) |
V1096I |
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,764,290 (GRCm39) |
N325S |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,460,144 (GRCm39) |
D85G |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,435,945 (GRCm39) |
I1161N |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,194,042 (GRCm39) |
H289Y |
possibly damaging |
Het |
| Hsd3b7 |
A |
G |
7: 127,401,060 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ifnar1 |
T |
G |
16: 91,302,252 (GRCm39) |
Y21D |
probably benign |
Het |
| Isoc2b |
C |
T |
7: 4,853,782 (GRCm39) |
V131I |
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,128,595 (GRCm39) |
I500V |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,652,319 (GRCm39) |
G1184W |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Map3k7 |
T |
C |
4: 31,991,719 (GRCm39) |
F319S |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,361,380 (GRCm39) |
T1564A |
probably damaging |
Het |
| Nptx2 |
A |
T |
5: 144,492,999 (GRCm39) |
D362V |
probably damaging |
Het |
| Nutf2-ps1 |
A |
T |
19: 53,577,265 (GRCm39) |
I52N |
probably damaging |
Het |
| Or2aj4 |
C |
T |
16: 19,385,080 (GRCm39) |
M184I |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,447,628 (GRCm39) |
Y2255F |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,045,657 (GRCm39) |
Y308* |
probably null |
Het |
| Retreg2 |
G |
A |
1: 75,121,633 (GRCm39) |
V219I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,080,253 (GRCm39) |
E675V |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,720,587 (GRCm39) |
M2687K |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,963,271 (GRCm39) |
D293G |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,803,846 (GRCm39) |
V154A |
probably damaging |
Het |
| Srm |
G |
T |
4: 148,678,566 (GRCm39) |
Q264H |
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,281,670 (GRCm39) |
I316N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,927,163 (GRCm39) |
N103S |
probably benign |
Het |
| Tas2r105 |
G |
A |
6: 131,663,805 (GRCm39) |
|
probably null |
Het |
| Tbcel |
T |
A |
9: 42,363,041 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,203,555 (GRCm39) |
S574G |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,250,824 (GRCm39) |
V783E |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,906 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,017 (GRCm39) |
K249E |
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 |
|
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'- GTGTCATCAACTGTCCCCAACC -3'
(R):5'- CTCAGGAAACTTTGCTTGCTTTG -3'
Sequencing Primer
(F):5'- ACCTAAACTTGTCACAAAGCTG -3'
(R):5'- CTGACTCCTAGTGATGAGATCATAGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation