Incidental Mutation 'R6522:Galnt6'
ID |
521418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt6
|
Ensembl Gene |
ENSMUSG00000037280 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 6 |
Synonyms |
GalNAc-T6 |
MMRRC Submission |
044648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R6522 (G1)
|
Quality Score |
202.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
100589694-100627257 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to C
at 100591236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamic Acid
at position 623
(*623E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052069]
[ENSMUST00000159715]
[ENSMUST00000161514]
|
AlphaFold |
Q8C7U7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052069
AA Change: *623E
|
SMART Domains |
Protein: ENSMUSP00000056705 Gene: ENSMUSG00000037280 AA Change: *623E
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
177 |
431 |
4.2e-10 |
PFAM |
Pfam:Glycos_transf_2
|
180 |
366 |
8.8e-36 |
PFAM |
Pfam:Glyco_transf_7C
|
337 |
415 |
8.5e-14 |
PFAM |
RICIN
|
496 |
622 |
1.53e-27 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159715
AA Change: *623E
|
SMART Domains |
Protein: ENSMUSP00000123848 Gene: ENSMUSG00000037280 AA Change: *623E
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
177 |
432 |
1e-10 |
PFAM |
Pfam:Glycos_transf_2
|
180 |
366 |
4.1e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
337 |
415 |
6.7e-13 |
PFAM |
RICIN
|
496 |
622 |
1.53e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160960
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161514
AA Change: *623E
|
SMART Domains |
Protein: ENSMUSP00000124793 Gene: ENSMUSG00000037280 AA Change: *623E
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
177 |
431 |
4.2e-10 |
PFAM |
Pfam:Glycos_transf_2
|
180 |
366 |
8.8e-36 |
PFAM |
Pfam:Glyco_transf_7C
|
337 |
415 |
8.5e-14 |
PFAM |
RICIN
|
496 |
622 |
1.53e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229410
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
C |
A |
10: 10,253,636 (GRCm39) |
E1209* |
probably null |
Het |
Adgrg5 |
G |
T |
8: 95,668,696 (GRCm39) |
R503L |
probably benign |
Het |
Anks1b |
C |
T |
10: 90,733,189 (GRCm39) |
|
probably benign |
Het |
Anxa5 |
A |
T |
3: 36,519,451 (GRCm39) |
F13I |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,385,503 (GRCm39) |
I79V |
probably benign |
Het |
Bnip1 |
A |
G |
17: 27,008,719 (GRCm39) |
D107G |
probably damaging |
Het |
Ccdc42 |
A |
G |
11: 68,479,046 (GRCm39) |
E78G |
probably damaging |
Het |
Ccnk |
A |
G |
12: 108,153,446 (GRCm39) |
D69G |
probably damaging |
Het |
Clec2i |
G |
T |
6: 128,870,692 (GRCm39) |
V77F |
probably damaging |
Het |
Clec4g |
A |
C |
8: 3,768,803 (GRCm39) |
V62G |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,465,304 (GRCm39) |
A957V |
unknown |
Het |
Csnk1d |
A |
G |
11: 120,862,449 (GRCm39) |
F277L |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,625,264 (GRCm39) |
|
probably null |
Het |
Dpf2 |
T |
A |
19: 5,955,560 (GRCm39) |
K108* |
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,583,171 (GRCm39) |
D423N |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,766,554 (GRCm39) |
|
probably null |
Homo |
Flad1 |
T |
C |
3: 89,310,490 (GRCm39) |
R488G |
probably damaging |
Het |
Gtf2e1 |
T |
C |
16: 37,331,816 (GRCm39) |
T420A |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,282,586 (GRCm39) |
V3442A |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,365,237 (GRCm39) |
D55G |
probably damaging |
Het |
Kdm2a |
C |
A |
19: 4,374,854 (GRCm39) |
R759L |
possibly damaging |
Het |
Kif19a |
A |
G |
11: 114,676,605 (GRCm39) |
E478G |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,017,761 (GRCm39) |
V881I |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,977,335 (GRCm39) |
L894P |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,897,801 (GRCm39) |
|
probably null |
Het |
Mst1r |
G |
A |
9: 107,790,438 (GRCm39) |
V684M |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,378,935 (GRCm39) |
S727P |
probably damaging |
Het |
Nap1l1 |
T |
C |
10: 111,330,084 (GRCm39) |
L330S |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,247,281 (GRCm39) |
T2205A |
probably damaging |
Het |
Ncf2 |
T |
C |
1: 152,703,214 (GRCm39) |
|
probably null |
Het |
Opa1 |
T |
A |
16: 29,444,332 (GRCm39) |
N839K |
probably benign |
Het |
Or4c104 |
T |
C |
2: 88,586,452 (GRCm39) |
D189G |
probably damaging |
Het |
Or52a33 |
T |
C |
7: 103,288,504 (GRCm39) |
Y281C |
probably damaging |
Het |
Or52n4b |
G |
A |
7: 108,144,202 (GRCm39) |
V155I |
probably benign |
Het |
Pcdha7 |
T |
C |
18: 37,106,995 (GRCm39) |
Y7H |
possibly damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
Phf10 |
A |
T |
17: 15,176,269 (GRCm39) |
I128N |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,736,965 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
T |
C |
15: 89,048,629 (GRCm39) |
N626S |
probably benign |
Het |
Prh1 |
G |
A |
6: 132,548,996 (GRCm39) |
G168R |
unknown |
Het |
Prss51 |
A |
G |
14: 64,334,855 (GRCm39) |
T137A |
possibly damaging |
Het |
Ptprcap |
C |
T |
19: 4,206,183 (GRCm39) |
R89C |
possibly damaging |
Het |
Scfd1 |
A |
G |
12: 51,478,324 (GRCm39) |
K512R |
probably benign |
Het |
Serpina1b |
A |
C |
12: 103,701,296 (GRCm39) |
|
probably null |
Het |
Setbp1 |
T |
C |
18: 78,900,605 (GRCm39) |
T1021A |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,601,145 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
C |
T |
2: 127,063,747 (GRCm39) |
T642I |
probably benign |
Het |
Tenm4 |
A |
C |
7: 96,492,251 (GRCm39) |
I1063L |
possibly damaging |
Het |
Tfb2m |
G |
A |
1: 179,373,611 (GRCm39) |
A29V |
probably benign |
Het |
Tfeb |
T |
C |
17: 48,100,627 (GRCm39) |
V140A |
probably damaging |
Het |
Tmem104 |
A |
T |
11: 115,134,579 (GRCm39) |
I372F |
probably damaging |
Het |
Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
Trim12c |
A |
T |
7: 103,997,531 (GRCm39) |
N8K |
probably benign |
Het |
Tti2 |
A |
G |
8: 31,643,631 (GRCm39) |
I249V |
probably null |
Het |
Vps8 |
T |
A |
16: 21,261,129 (GRCm39) |
L90I |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,639,926 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
G |
14: 32,868,901 (GRCm39) |
S376P |
probably damaging |
Het |
|
Other mutations in Galnt6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02024:Galnt6
|
APN |
15 |
100,601,374 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02606:Galnt6
|
APN |
15 |
100,612,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Galnt6
|
UTSW |
15 |
100,591,352 (GRCm39) |
splice site |
probably null |
|
R0336:Galnt6
|
UTSW |
15 |
100,597,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R0504:Galnt6
|
UTSW |
15 |
100,594,538 (GRCm39) |
splice site |
probably benign |
|
R1563:Galnt6
|
UTSW |
15 |
100,601,259 (GRCm39) |
missense |
probably benign |
0.00 |
R1903:Galnt6
|
UTSW |
15 |
100,613,999 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2007:Galnt6
|
UTSW |
15 |
100,595,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R2114:Galnt6
|
UTSW |
15 |
100,612,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R2943:Galnt6
|
UTSW |
15 |
100,612,160 (GRCm39) |
splice site |
probably null |
|
R3410:Galnt6
|
UTSW |
15 |
100,597,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Galnt6
|
UTSW |
15 |
100,595,049 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4754:Galnt6
|
UTSW |
15 |
100,597,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Galnt6
|
UTSW |
15 |
100,614,059 (GRCm39) |
missense |
probably benign |
|
R4911:Galnt6
|
UTSW |
15 |
100,614,059 (GRCm39) |
missense |
probably benign |
|
R4962:Galnt6
|
UTSW |
15 |
100,594,455 (GRCm39) |
nonsense |
probably null |
|
R5237:Galnt6
|
UTSW |
15 |
100,591,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5293:Galnt6
|
UTSW |
15 |
100,601,382 (GRCm39) |
missense |
probably benign |
0.00 |
R5605:Galnt6
|
UTSW |
15 |
100,595,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R5752:Galnt6
|
UTSW |
15 |
100,602,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Galnt6
|
UTSW |
15 |
100,592,527 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5949:Galnt6
|
UTSW |
15 |
100,594,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R6051:Galnt6
|
UTSW |
15 |
100,592,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Galnt6
|
UTSW |
15 |
100,591,305 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6959:Galnt6
|
UTSW |
15 |
100,612,006 (GRCm39) |
missense |
probably damaging |
0.99 |
R7154:Galnt6
|
UTSW |
15 |
100,591,345 (GRCm39) |
missense |
probably benign |
0.05 |
R7450:Galnt6
|
UTSW |
15 |
100,595,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7834:Galnt6
|
UTSW |
15 |
100,611,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Galnt6
|
UTSW |
15 |
100,601,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R8143:Galnt6
|
UTSW |
15 |
100,614,088 (GRCm39) |
missense |
probably damaging |
0.98 |
R8212:Galnt6
|
UTSW |
15 |
100,591,308 (GRCm39) |
missense |
probably benign |
0.35 |
R8683:Galnt6
|
UTSW |
15 |
100,592,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Galnt6
|
UTSW |
15 |
100,592,501 (GRCm39) |
missense |
probably benign |
0.01 |
R8906:Galnt6
|
UTSW |
15 |
100,601,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Galnt6
|
UTSW |
15 |
100,602,032 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9794:Galnt6
|
UTSW |
15 |
100,595,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGACCAGTGTTGTTGCAAG -3'
(R):5'- CAGGCTAAAGCTGCTGTGTG -3'
Sequencing Primer
(F):5'- GAAGAACATCCTGCCTTGGTG -3'
(R):5'- TCAGAATCAGAATCGGAATCGG -3'
|
Posted On |
2018-06-06 |