Incidental Mutation 'IGL02024:Galnt6'
| ID |
184084 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt6
|
| Ensembl Gene |
ENSMUSG00000037280 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 6 |
| Synonyms |
GalNAc-T6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
IGL02024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
100589694-100627257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100601374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 302
(D302N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052069]
[ENSMUST00000159715]
[ENSMUST00000161514]
|
| AlphaFold |
Q8C7U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052069
AA Change: D302N
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: D302N
| 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 benign
Transcript: ENSMUST00000159715
AA Change: D302N
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: D302N
| 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 benign
Transcript: ENSMUST00000161514
AA Change: D302N
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: D302N
| 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 |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
| Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
| Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
| Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
| Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
| Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
| Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
| Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
| Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
| Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
| Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
Het |
|
| Other mutations in Galnt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6522:Galnt6
|
UTSW |
15 |
100,591,236 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation