Incidental Mutation 'R8823:Galnt12'
| ID |
673263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt12
|
| Ensembl Gene |
ENSMUSG00000039774 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 12 |
| Synonyms |
A630062B03Rik |
| MMRRC Submission |
068656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8823 (G1)
|
| Quality Score |
98.0078 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47091909-47123070 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to T
at 47091928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045041]
[ENSMUST00000107744]
|
| AlphaFold |
Q8BGT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045041
|
| SMART Domains |
Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
A |
8: 41,133,228 (GRCm39) |
I232K |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,460,191 (GRCm39) |
L506P |
probably benign |
Het |
| Atg5lrt |
A |
T |
10: 95,972,633 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ceacam20 |
A |
T |
7: 19,705,429 (GRCm39) |
Y140F |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,300,258 (GRCm39) |
R334H |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,880 (GRCm39) |
H78R |
probably damaging |
Het |
| Etnppl |
G |
A |
3: 130,420,195 (GRCm39) |
G204R |
probably damaging |
Het |
| Fah |
A |
G |
7: 84,254,925 (GRCm39) |
F3L |
possibly damaging |
Het |
| Gbx1 |
A |
G |
5: 24,710,051 (GRCm39) |
S265P |
probably damaging |
Het |
| Gm17087 |
A |
G |
17: 8,785,233 (GRCm39) |
*157R |
probably null |
Het |
| Grin2a |
T |
A |
16: 9,487,758 (GRCm39) |
N380I |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,811,856 (GRCm39) |
T269I |
|
Het |
| Hace1 |
T |
C |
10: 45,524,956 (GRCm39) |
Y241H |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,722 (GRCm39) |
D291G |
possibly damaging |
Het |
| Ifi208 |
A |
G |
1: 173,511,102 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-5 |
A |
G |
12: 115,031,267 (GRCm39) |
S91P |
probably damaging |
Het |
| Igkv15-103 |
T |
C |
6: 68,414,855 (GRCm39) |
L98P |
probably damaging |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,347,077 (GRCm39) |
W138R |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,668,240 (GRCm39) |
L69Q |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,574,330 (GRCm39) |
I505T |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,294,193 (GRCm39) |
I313F |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,040,648 (GRCm39) |
I733F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,076,300 (GRCm39) |
R800S |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,492,571 (GRCm39) |
I728N |
possibly damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,155 (GRCm39) |
I158T |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,969,220 (GRCm39) |
R33G |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,967,457 (GRCm39) |
F950S |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,384,282 (GRCm39) |
M697K |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,203,621 (GRCm39) |
Y386H |
probably damaging |
Het |
| Rilpl2 |
C |
T |
5: 124,606,716 (GRCm39) |
R166K |
possibly damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,609 (GRCm39) |
N254K |
probably benign |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
T |
A |
9: 14,221,536 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,877,894 (GRCm39) |
H291Q |
probably damaging |
Het |
| Slc38a3 |
A |
C |
9: 107,533,150 (GRCm39) |
Y308D |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,535 (GRCm39) |
V106A |
probably benign |
Het |
| Sybu |
C |
A |
15: 44,540,998 (GRCm39) |
A355S |
possibly damaging |
Het |
| Tes3-ps |
A |
T |
13: 49,647,692 (GRCm39) |
R189S |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,382,604 (GRCm39) |
D164G |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,823 (GRCm39) |
Q88R |
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,832 (GRCm39) |
V39A |
probably benign |
Het |
| Xpo1 |
A |
T |
11: 23,217,752 (GRCm39) |
M73L |
probably benign |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,350,892 (GRCm39) |
K2E |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,568 (GRCm39) |
K413R |
possibly damaging |
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 |
|
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 |
|
|
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'- TTCAAGGAAGGGTCCCCATAG -3'
(R):5'- TGATCTGGTGCTGCTTCACG -3'
Sequencing Primer
(F):5'- TCCCCATAGCGCCCAGAG -3'
(R):5'- GGTGCTGCTTCACGCTCTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation