Incidental Mutation 'R3158:Galnt12'
| ID |
263579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt12
|
| Ensembl Gene |
ENSMUSG00000039774 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 12 |
| Synonyms |
A630062B03Rik |
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47091909-47123070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47104264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 174
(D174G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045041]
[ENSMUST00000107744]
|
| AlphaFold |
Q8BGT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045041
AA Change: D174G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: D174G
| 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 benign
Transcript: ENSMUST00000107744
|
| SMART Domains |
Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7C
|
5 |
71 |
7.5e-9 |
PFAM |
|
RICIN
|
148 |
280 |
8.09e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179673
|
| Meta Mutation Damage Score |
0.2392 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
probably benign |
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 |
|
|
IGL02188:Galnt12
|
APN |
4 |
47,122,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTTACAGGTGCAGAGAGG -3'
(R):5'- TGACCTCTTGATGACCCACCTG -3'
Sequencing Primer
(F):5'- GTGAAATACGATTATGATAACCTGCC -3'
(R):5'- CCTCTGAAGCTCTCTGGGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation