Incidental Mutation 'R4411:Galnt5'
| ID |
327893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
041693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57889207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 269
(L269P)
|
| 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: L269P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: L269P
| 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: L269P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: L269P
| 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 |
0.0991 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,042,781 (GRCm39) |
I423V |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,457,652 (GRCm39) |
V306A |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,900 (GRCm39) |
Y1006C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,519 (GRCm39) |
R885G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,503,853 (GRCm39) |
V613E |
probably damaging |
Het |
| Atxn7l1 |
G |
T |
12: 33,244,886 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
A |
18: 34,756,497 (GRCm39) |
|
probably benign |
Het |
| Bsnd |
C |
T |
4: 106,343,868 (GRCm39) |
R146H |
probably benign |
Het |
| C4b |
C |
T |
17: 34,947,838 (GRCm39) |
R1659H |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,168,115 (GRCm39) |
R1080H |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,916,326 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
G |
A |
4: 148,238,065 (GRCm39) |
R221C |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,881,481 (GRCm39) |
D166G |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 118,188,590 (GRCm39) |
V408A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,289,535 (GRCm39) |
T3832A |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,715,436 (GRCm39) |
N493S |
probably damaging |
Het |
| Ighv1-76 |
A |
T |
12: 115,811,731 (GRCm39) |
C41S |
probably damaging |
Het |
| Igkv12-46 |
G |
A |
6: 69,741,930 (GRCm39) |
T16I |
probably benign |
Het |
| Igkv3-9 |
G |
T |
6: 70,565,547 (GRCm39) |
V49F |
probably damaging |
Het |
| Isoc2b |
A |
T |
7: 4,852,433 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
A |
11: 34,037,173 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,373,003 (GRCm39) |
|
probably null |
Het |
| Mdm2 |
A |
T |
10: 117,545,694 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Msh2 |
T |
C |
17: 88,025,032 (GRCm39) |
S637P |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,831,345 (GRCm39) |
F765S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,138,492 (GRCm39) |
P363S |
probably benign |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,050 (GRCm39) |
S477P |
possibly damaging |
Het |
| Pde3b |
GTGATGATGATGATGATGATGATGATG |
GTGATGATGATGATGATGATGATG |
7: 114,133,984 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,941,716 (GRCm39) |
W13* |
probably null |
Het |
| Pnpla8 |
T |
C |
12: 44,330,225 (GRCm39) |
V41A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,860,240 (GRCm39) |
S1017T |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,878,771 (GRCm39) |
Y108* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,079,592 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,275,623 (GRCm39) |
E410G |
possibly damaging |
Het |
| Smpd5 |
G |
T |
15: 76,179,112 (GRCm39) |
R160L |
possibly damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,720 (GRCm39) |
T65A |
probably benign |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,585 (GRCm39) |
V148I |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,843 (GRCm39) |
|
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,255,315 (GRCm39) |
T11A |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,327,905 (GRCm39) |
E472K |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,173,098 (GRCm39) |
K766E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,560,633 (GRCm39) |
R29256Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,572,414 (GRCm39) |
I26160V |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 44,002,360 (GRCm39) |
S351P |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Zfp455 |
A |
T |
13: 67,355,389 (GRCm39) |
N219I |
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 |
|
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'- GGACCCTGAATATGACCATCAG -3'
(R):5'- TGGACTTCCACCCAGTAATTTAGG -3'
Sequencing Primer
(F):5'- TGACCATCAGTGTCAAGACTG -3'
(R):5'- CCCAGTAATTTAGGAAACACAGTTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation