Incidental Mutation 'R7407:Galnt12'
| ID |
574781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt12
|
| Ensembl Gene |
ENSMUSG00000039774 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 12 |
| Synonyms |
A630062B03Rik |
| MMRRC Submission |
045488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
47091909-47123070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47120362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 482
(F482L)
|
| 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: F482L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: F482L
| 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: F190L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774
AA Change: F190L
| 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: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,626 (GRCm39) |
N220S |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,605,674 (GRCm39) |
V186A |
probably benign |
Het |
| Actbl2 |
A |
T |
13: 111,392,752 (GRCm39) |
E362D |
probably damaging |
Het |
| Adamts17 |
C |
A |
7: 66,697,304 (GRCm39) |
Y28* |
probably null |
Het |
| Agtr1b |
T |
C |
3: 20,369,895 (GRCm39) |
D237G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,291 (GRCm39) |
D162G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,572,624 (GRCm39) |
E366G |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,452,330 (GRCm39) |
I88V |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,817 (GRCm39) |
N100S |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,112,882 (GRCm39) |
D38G |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Deaf1 |
G |
A |
7: 140,877,492 (GRCm39) |
A545V |
possibly damaging |
Het |
| Dicer1 |
G |
T |
12: 104,688,610 (GRCm39) |
Y322* |
probably null |
Het |
| Dnajb7 |
G |
T |
15: 81,291,827 (GRCm39) |
T170K |
possibly damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,074 (GRCm39) |
E137D |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,067,974 (GRCm39) |
V336A |
probably damaging |
Het |
| Gpatch8 |
G |
A |
11: 102,370,656 (GRCm39) |
R961W |
unknown |
Het |
| Hcn4 |
A |
G |
9: 58,766,653 (GRCm39) |
E738G |
unknown |
Het |
| Kdelr3 |
A |
G |
15: 79,409,039 (GRCm39) |
Y76C |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,768,530 (GRCm39) |
S494G |
unknown |
Het |
| Letmd1 |
G |
T |
15: 100,367,119 (GRCm39) |
A39S |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,840,878 (GRCm39) |
R1387W |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,713,553 (GRCm39) |
Y599H |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,385,209 (GRCm39) |
I477L |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,338,969 (GRCm39) |
D1174G |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,402 (GRCm38) |
I227L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,800 (GRCm39) |
Y278* |
probably null |
Het |
| Palld |
G |
T |
8: 61,968,975 (GRCm39) |
S1283* |
probably null |
Het |
| Pcmtd2 |
T |
C |
2: 181,488,398 (GRCm39) |
V183A |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,652,880 (GRCm39) |
I269F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,568 (GRCm39) |
L4036P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,458,407 (GRCm39) |
N4151S |
possibly damaging |
Het |
| Rcor3 |
C |
T |
1: 191,785,972 (GRCm39) |
S422N |
probably benign |
Het |
| Rhag |
A |
G |
17: 41,142,225 (GRCm39) |
I223V |
possibly damaging |
Het |
| Ssbp4 |
A |
G |
8: 71,051,672 (GRCm39) |
Y231H |
probably damaging |
Het |
| Syce1l |
C |
T |
8: 114,381,770 (GRCm39) |
Q237* |
probably null |
Het |
| Tenm4 |
T |
C |
7: 96,423,194 (GRCm39) |
V663A |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,217 (GRCm39) |
Y97C |
probably damaging |
Het |
| Trim6 |
T |
C |
7: 103,875,108 (GRCm39) |
I115T |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,880,729 (GRCm39) |
I399T |
|
Het |
| Vmn1r25 |
T |
A |
6: 57,956,044 (GRCm39) |
T82S |
possibly damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,484,308 (GRCm39) |
S631P |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,235,823 (GRCm39) |
V637E |
probably damaging |
Het |
| Xpo6 |
A |
T |
7: 125,770,224 (GRCm39) |
M62K |
probably damaging |
Het |
| Ypel5 |
A |
G |
17: 73,153,374 (GRCm39) |
N26S |
possibly damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,340,775 (GRCm39) |
Q624K |
possibly damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,415 (GRCm39) |
D798G |
probably benign |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably 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 |
|
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'- CCACCCTCACTTATTTCCAGTAGAG -3'
(R):5'- CACCGAAAGCTGCATTCACTG -3'
Sequencing Primer
(F):5'- AGAAGTGGTTCTCAGCCTTCCTAATG -3'
(R):5'- GAAAGCTGCATTCACTGACCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation