Incidental Mutation 'R4154:Galnt5'
| ID |
315026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
040998-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4154 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
57997884-58045860 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 57998493 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 35
(L35R)
|
| 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: L35R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: L35R
| 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: L35R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: L35R
| 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 |
0.1139 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI593442 |
A |
T |
9: 52,677,904 (GRCm38) |
H124Q |
probably benign |
Het |
| Asph |
C |
T |
4: 9,639,250 (GRCm38) |
W38* |
probably null |
Het |
| Bicdl2 |
A |
G |
17: 23,666,092 (GRCm38) |
|
probably null |
Het |
| Chd8 |
T |
C |
14: 52,207,211 (GRCm38) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,294,834 (GRCm38) |
N67D |
probably benign |
Het |
| Cptp |
A |
G |
4: 155,867,200 (GRCm38) |
V12A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,237,843 (GRCm38) |
I145V |
probably benign |
Het |
| Ctsc |
G |
A |
7: 88,299,547 (GRCm38) |
M195I |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,534,480 (GRCm38) |
R205W |
possibly damaging |
Het |
| Fas |
T |
G |
19: 34,318,828 (GRCm38) |
I180S |
possibly damaging |
Het |
| Fsip2 |
A |
C |
2: 82,987,069 (GRCm38) |
E4382A |
possibly damaging |
Het |
| Gfpt2 |
G |
A |
11: 49,835,778 (GRCm38) |
|
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm38) |
S89* |
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,995,079 (GRCm38) |
H110L |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,642,353 (GRCm38) |
V211A |
probably benign |
Het |
| Gsc2 |
TGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAG |
16: 17,914,802 (GRCm38) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,758,397 (GRCm38) |
M7K |
probably benign |
Het |
| Igkv12-44 |
C |
T |
6: 69,814,655 (GRCm38) |
C108Y |
possibly damaging |
Het |
| Lum |
T |
C |
10: 97,568,953 (GRCm38) |
S237P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,471,813 (GRCm38) |
K3052E |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,707,475 (GRCm38) |
E1588G |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,672,227 (GRCm38) |
Y32C |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,527,667 (GRCm38) |
T172A |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 105,329,385 (GRCm38) |
N269S |
probably damaging |
Het |
| Pard3 |
G |
T |
8: 127,474,396 (GRCm38) |
R978L |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 36,953,586 (GRCm38) |
|
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,208,258 (GRCm38) |
V93A |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,311,283 (GRCm38) |
M516I |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,159,642 (GRCm38) |
F1336L |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
C |
12: 82,425,214 (GRCm38) |
G1323R |
possibly damaging |
Het |
| Sntg1 |
A |
T |
1: 8,583,345 (GRCm38) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,626,021 (GRCm38) |
K1153R |
probably benign |
Het |
| Strn3 |
C |
T |
12: 51,627,131 (GRCm38) |
V566M |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,068 (GRCm38) |
F2906S |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,386,135 (GRCm38) |
V545M |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,808,793 (GRCm38) |
|
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,834,358 (GRCm38) |
S157P |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,805,329 (GRCm38) |
V258M |
probably benign |
Het |
| Vat1l |
G |
C |
8: 114,205,803 (GRCm38) |
G30R |
possibly damaging |
Het |
| Vegfb |
T |
C |
19: 6,986,078 (GRCm38) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,523,419 (GRCm38) |
|
probably null |
Het |
| Zc3h15 |
T |
C |
2: 83,658,569 (GRCm38) |
V161A |
probably benign |
Het |
|
| Other mutations in Galnt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Galnt5
|
APN |
2 |
57,998,973 (GRCm38) |
missense |
probably benign |
|
|
IGL00515:Galnt5
|
APN |
2 |
57,999,068 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00950:Galnt5
|
APN |
2 |
57,999,132 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00973:Galnt5
|
APN |
2 |
57,998,939 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01152:Galnt5
|
APN |
2 |
58,025,393 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL01305:Galnt5
|
APN |
2 |
58,025,342 (GRCm38) |
nonsense |
probably null |
|
|
IGL01661:Galnt5
|
APN |
2 |
57,999,482 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01719:Galnt5
|
APN |
2 |
57,998,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02165:Galnt5
|
APN |
2 |
57,998,865 (GRCm38) |
missense |
probably benign |
|
|
IGL02795:Galnt5
|
APN |
2 |
58,027,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02943:Galnt5
|
APN |
2 |
57,999,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03218:Galnt5
|
APN |
2 |
57,999,389 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
ANU22:Galnt5
|
UTSW |
2 |
58,025,342 (GRCm38) |
nonsense |
probably null |
|
|
R0082:Galnt5
|
UTSW |
2 |
57,999,035 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0113:Galnt5
|
UTSW |
2 |
57,998,877 (GRCm38) |
missense |
probably benign |
|
|
R0445:Galnt5
|
UTSW |
2 |
57,998,950 (GRCm38) |
missense |
probably benign |
|
|
R0517:Galnt5
|
UTSW |
2 |
58,035,373 (GRCm38) |
splice site |
probably benign |
|
|
R0609:Galnt5
|
UTSW |
2 |
58,024,625 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0639:Galnt5
|
UTSW |
2 |
57,999,395 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0646:Galnt5
|
UTSW |
2 |
57,999,085 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0677:Galnt5
|
UTSW |
2 |
57,998,980 (GRCm38) |
nonsense |
probably null |
|
|
R1808:Galnt5
|
UTSW |
2 |
58,026,125 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1927:Galnt5
|
UTSW |
2 |
57,998,603 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1980:Galnt5
|
UTSW |
2 |
58,024,723 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2517:Galnt5
|
UTSW |
2 |
57,999,413 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4044:Galnt5
|
UTSW |
2 |
57,998,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4411:Galnt5
|
UTSW |
2 |
57,999,195 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4703:Galnt5
|
UTSW |
2 |
57,998,907 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4767:Galnt5
|
UTSW |
2 |
58,028,144 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5118:Galnt5
|
UTSW |
2 |
58,015,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5497:Galnt5
|
UTSW |
2 |
58,025,328 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5506:Galnt5
|
UTSW |
2 |
57,999,625 (GRCm38) |
missense |
probably benign |
|
|
R5548:Galnt5
|
UTSW |
2 |
58,014,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5758:Galnt5
|
UTSW |
2 |
57,998,430 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5937:Galnt5
|
UTSW |
2 |
58,038,937 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6237:Galnt5
|
UTSW |
2 |
58,035,249 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6805:Galnt5
|
UTSW |
2 |
58,035,299 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6959:Galnt5
|
UTSW |
2 |
57,999,219 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7070:Galnt5
|
UTSW |
2 |
57,998,609 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7179:Galnt5
|
UTSW |
2 |
57,998,609 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7347:Galnt5
|
UTSW |
2 |
58,017,193 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7419:Galnt5
|
UTSW |
2 |
58,014,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7426:Galnt5
|
UTSW |
2 |
58,017,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7492:Galnt5
|
UTSW |
2 |
58,026,036 (GRCm38) |
splice site |
probably null |
|
|
R7539:Galnt5
|
UTSW |
2 |
58,035,230 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7623:Galnt5
|
UTSW |
2 |
58,017,210 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8135:Galnt5
|
UTSW |
2 |
58,014,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8155:Galnt5
|
UTSW |
2 |
57,999,415 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8544:Galnt5
|
UTSW |
2 |
58,017,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9267:Galnt5
|
UTSW |
2 |
58,035,208 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9747:Galnt5
|
UTSW |
2 |
57,999,465 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACAGCTATTTCCTGCTTGG -3'
(R):5'- CCTTGAGTTCATGGTTCTCAGC -3'
Sequencing Primer
(F):5'- CTGCTTGGTTCCGACGAGAG -3'
(R):5'- GTTCATGGTTCTCAGCTTTTCTAAAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation