Incidental Mutation 'IGL02188:Galnt12'
| ID |
283735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt12
|
| Ensembl Gene |
ENSMUSG00000039774 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 12 |
| Synonyms |
A630062B03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
47091909-47123070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47122521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 267
(R267W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045041]
[ENSMUST00000107744]
|
| AlphaFold |
Q8BGT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045041
AA Change: R559W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: R559W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
131 |
375 |
3.4e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
134 |
317 |
1.4e-35 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
134 |
360 |
6.6e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
290 |
363 |
3e-9 |
PFAM |
|
RICIN
|
440 |
572 |
8.09e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107744
AA Change: R267W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774
AA Change: R267W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7C
|
5 |
71 |
7.5e-9 |
PFAM |
|
RICIN
|
148 |
280 |
8.09e-18 |
SMART |
|
| 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 a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
| Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,090,035 (GRCm39) |
|
probably benign |
Het |
| Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
| Haus8 |
G |
T |
8: 71,710,059 (GRCm39) |
A51E |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
| Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,541,361 (GRCm39) |
V273A |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,791,994 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,932,617 (GRCm39) |
L100P |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
| Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Galnt12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01877:Galnt12
|
APN |
4 |
47,112,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL02217:Galnt12
|
APN |
4 |
47,113,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Galnt12
|
APN |
4 |
47,117,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Galnt12
|
APN |
4 |
47,104,126 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03062:Galnt12
|
APN |
4 |
47,122,566 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0508:Galnt12
|
UTSW |
4 |
47,104,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Galnt12
|
UTSW |
4 |
47,117,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Galnt12
|
UTSW |
4 |
47,108,585 (GRCm39) |
splice site |
probably null |
|
|
R2072:Galnt12
|
UTSW |
4 |
47,108,477 (GRCm39) |
nonsense |
probably null |
|
|
R2297:Galnt12
|
UTSW |
4 |
47,113,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Galnt12
|
UTSW |
4 |
47,108,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3157:Galnt12
|
UTSW |
4 |
47,104,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3158:Galnt12
|
UTSW |
4 |
47,104,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Galnt12
|
UTSW |
4 |
47,104,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Galnt12
|
UTSW |
4 |
47,104,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Galnt12
|
UTSW |
4 |
47,104,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Galnt12
|
UTSW |
4 |
47,104,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Galnt12
|
UTSW |
4 |
47,113,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Galnt12
|
UTSW |
4 |
47,104,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5657:Galnt12
|
UTSW |
4 |
47,104,150 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6074:Galnt12
|
UTSW |
4 |
47,112,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Galnt12
|
UTSW |
4 |
47,122,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6721:Galnt12
|
UTSW |
4 |
47,122,529 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Galnt12
|
UTSW |
4 |
47,108,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Galnt12
|
UTSW |
4 |
47,120,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Galnt12
|
UTSW |
4 |
47,108,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7810:Galnt12
|
UTSW |
4 |
47,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Galnt12
|
UTSW |
4 |
47,113,908 (GRCm39) |
splice site |
probably benign |
|
|
R8823:Galnt12
|
UTSW |
4 |
47,091,928 (GRCm39) |
start gained |
probably benign |
|
|
R8871:Galnt12
|
UTSW |
4 |
47,108,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9144:Galnt12
|
UTSW |
4 |
47,113,822 (GRCm39) |
missense |
|
|
|
R9449:Galnt12
|
UTSW |
4 |
47,104,163 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Galnt12
|
UTSW |
4 |
47,117,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9646:Galnt12
|
UTSW |
4 |
47,120,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9723:Galnt12
|
UTSW |
4 |
47,119,541 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Galnt12
|
UTSW |
4 |
47,104,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation