Incidental Mutation 'R6734:Galnt9'
| ID |
528335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt9
|
| Ensembl Gene |
ENSMUSG00000033316 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 9 |
| Synonyms |
GalNAc-T9 |
| MMRRC Submission |
044852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110692221-110769246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110768465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 587
(R587H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040001]
[ENSMUST00000165856]
[ENSMUST00000200404]
|
| AlphaFold |
G3X942 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040001
AA Change: R587H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: R587H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
155 |
341 |
4.3e-26 |
PFAM |
|
Blast:UBCc
|
425 |
457 |
3e-6 |
BLAST |
|
RICIN
|
466 |
596 |
6.74e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165856
AA Change: R220H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133111
Gene: ENSMUSG00000033316
AA Change: R220H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBCc
|
58 |
90 |
1e-6 |
BLAST |
|
RICIN
|
99 |
229 |
6.74e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200404
|
| SMART Domains |
Protein: ENSMUSP00000143647
Gene: ENSMUSG00000033316
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XHB|A
|
1 |
132 |
7e-27 |
PDB |
|
Blast:UBCc
|
58 |
90 |
2e-7 |
BLAST |
|
SCOP:d1abrb1
|
92 |
133 |
8e-5 |
SMART |
|
Blast:RICIN
|
99 |
136 |
1e-18 |
BLAST |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (52/52) |
| 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. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,847,417 (GRCm39) |
K554R |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,025,053 (GRCm39) |
I703F |
probably damaging |
Het |
| Bbs1 |
T |
C |
19: 4,953,924 (GRCm39) |
S80G |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk1 |
C |
A |
6: 113,311,345 (GRCm39) |
R352L |
probably benign |
Het |
| Cand1 |
G |
A |
10: 119,047,897 (GRCm39) |
P531L |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Col24a1 |
C |
A |
3: 145,214,429 (GRCm39) |
P1384Q |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,357,606 (GRCm39) |
T1689K |
probably benign |
Het |
| Cyp26a1 |
T |
A |
19: 37,689,660 (GRCm39) |
L452H |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
| Dennd6a |
G |
T |
14: 26,329,774 (GRCm39) |
R115L |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,934,432 (GRCm39) |
V377E |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,629 (GRCm39) |
E855G |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,834,478 (GRCm39) |
I107K |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,968,896 (GRCm39) |
Y59* |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,169,032 (GRCm39) |
E2249G |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,524 (GRCm39) |
D341G |
possibly damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,416 (GRCm39) |
T112A |
possibly damaging |
Het |
| Klhl24 |
T |
C |
16: 19,926,279 (GRCm39) |
V269A |
probably damaging |
Het |
| Lcorl |
A |
G |
5: 45,890,839 (GRCm39) |
S505P |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,802,707 (GRCm39) |
S121P |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,316,242 (GRCm39) |
V787M |
possibly damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,900,226 (GRCm39) |
D177A |
possibly damaging |
Het |
| Mbd1 |
G |
A |
18: 74,409,114 (GRCm39) |
R399H |
probably damaging |
Het |
| Naa25 |
C |
T |
5: 121,576,888 (GRCm39) |
T879M |
possibly damaging |
Het |
| Naa35 |
T |
G |
13: 59,756,005 (GRCm39) |
L147R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,787,003 (GRCm39) |
|
probably null |
Het |
| Nrap |
T |
C |
19: 56,333,941 (GRCm39) |
D972G |
probably damaging |
Het |
| Or9k7 |
A |
G |
10: 130,046,126 (GRCm39) |
F291S |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,551 (GRCm39) |
E31G |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,078,603 (GRCm39) |
E41K |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,937,988 (GRCm39) |
K1245* |
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,032,790 (GRCm39) |
T1263A |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,150,283 (GRCm39) |
V152I |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,321 (GRCm39) |
Y28C |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 16,981,097 (GRCm39) |
F85V |
probably damaging |
Het |
| Rrp1b |
T |
G |
17: 32,274,278 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
A |
G |
3: 30,864,609 (GRCm39) |
T158A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,412,236 (GRCm39) |
T526I |
probably benign |
Het |
| Shank1 |
G |
T |
7: 44,003,110 (GRCm39) |
A1610S |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,185,259 (GRCm39) |
V123A |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,509,013 (GRCm39) |
V714A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,945,257 (GRCm39) |
T655A |
probably damaging |
Het |
| Tns2 |
G |
T |
15: 102,011,551 (GRCm39) |
L10F |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,854,489 (GRCm39) |
V382A |
probably benign |
Het |
| Unc45a |
G |
C |
7: 79,986,746 (GRCm39) |
T149R |
probably damaging |
Het |
| Zhx3 |
T |
G |
2: 160,623,640 (GRCm39) |
I176L |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,966 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Galnt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01746:Galnt9
|
APN |
5 |
110,736,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Galnt9
|
APN |
5 |
110,750,502 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02394:Galnt9
|
APN |
5 |
110,763,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02468:Galnt9
|
APN |
5 |
110,762,089 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
garnished
|
UTSW |
5 |
110,736,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Spotless
|
UTSW |
5 |
110,763,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
varnished
|
UTSW |
5 |
110,768,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Galnt9
|
UTSW |
5 |
110,736,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Galnt9
|
UTSW |
5 |
110,767,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Galnt9
|
UTSW |
5 |
110,744,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1806:Galnt9
|
UTSW |
5 |
110,767,119 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1855:Galnt9
|
UTSW |
5 |
110,763,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4039:Galnt9
|
UTSW |
5 |
110,762,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4388:Galnt9
|
UTSW |
5 |
110,736,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4636:Galnt9
|
UTSW |
5 |
110,763,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4693:Galnt9
|
UTSW |
5 |
110,763,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Galnt9
|
UTSW |
5 |
110,725,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4925:Galnt9
|
UTSW |
5 |
110,692,605 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5040:Galnt9
|
UTSW |
5 |
110,765,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Galnt9
|
UTSW |
5 |
110,692,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Galnt9
|
UTSW |
5 |
110,725,386 (GRCm39) |
missense |
probably benign |
|
|
R5918:Galnt9
|
UTSW |
5 |
110,763,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Galnt9
|
UTSW |
5 |
110,768,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6777:Galnt9
|
UTSW |
5 |
110,768,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Galnt9
|
UTSW |
5 |
110,768,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Galnt9
|
UTSW |
5 |
110,737,694 (GRCm39) |
missense |
probably benign |
|
|
R7340:Galnt9
|
UTSW |
5 |
110,762,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7522:Galnt9
|
UTSW |
5 |
110,743,705 (GRCm39) |
splice site |
probably null |
|
|
R8110:Galnt9
|
UTSW |
5 |
110,763,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Galnt9
|
UTSW |
5 |
110,744,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8479:Galnt9
|
UTSW |
5 |
110,692,617 (GRCm39) |
missense |
probably benign |
|
|
R9007:Galnt9
|
UTSW |
5 |
110,692,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9060:Galnt9
|
UTSW |
5 |
110,737,710 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9213:Galnt9
|
UTSW |
5 |
110,767,108 (GRCm39) |
nonsense |
probably null |
|
|
R9614:Galnt9
|
UTSW |
5 |
110,744,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Galnt9
|
UTSW |
5 |
110,762,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Galnt9
|
UTSW |
5 |
110,744,012 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGTGGTAGTGCAGGAACC -3'
(R):5'- TCACAAAACCTAGCCCTGGG -3'
Sequencing Primer
(F):5'- CAGGATAAGGCTAGGATCACCC -3'
(R):5'- AAAACCTAGCCCTGGGGTGTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation