Incidental Mutation 'R4039:Galnt9'
| ID |
313841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt9
|
| Ensembl Gene |
ENSMUSG00000033316 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 9 |
| Synonyms |
GalNAc-T9 |
| MMRRC Submission |
041614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110692221-110769246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110762074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 37
(V37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040001]
[ENSMUST00000165856]
[ENSMUST00000200404]
|
| AlphaFold |
G3X942 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040001
AA Change: V404A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: V404A
| 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: V37A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133111
Gene: ENSMUSG00000033316
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBCc
|
58 |
90 |
1e-6 |
BLAST |
|
RICIN
|
99 |
229 |
6.74e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200404
AA Change: V37A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143647
Gene: ENSMUSG00000033316
AA Change: V37A
| 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 |
0.6405 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
T |
15: 59,888,215 (GRCm39) |
L75Q |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,348,263 (GRCm39) |
|
probably null |
Het |
| Col11a2 |
A |
G |
17: 34,264,748 (GRCm39) |
T268A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Csn2 |
C |
T |
5: 87,845,935 (GRCm39) |
M1I |
probably null |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,437,348 (GRCm39) |
Y75H |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,915,671 (GRCm39) |
H563Q |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gorab |
A |
T |
1: 163,224,635 (GRCm39) |
D55E |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,806,159 (GRCm39) |
R2318Q |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,183,339 (GRCm39) |
L481P |
probably damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,140 (GRCm39) |
L48P |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,463 (GRCm39) |
Q212* |
probably null |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,287,211 (GRCm39) |
S375L |
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,780,417 (GRCm39) |
L461P |
probably damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,839,305 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
C |
A |
12: 79,101,957 (GRCm39) |
H342Q |
probably benign |
Het |
| Prdm13 |
T |
G |
4: 21,685,774 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,207,508 (GRCm39) |
Y283* |
probably null |
Het |
| Rab12 |
T |
C |
17: 66,807,396 (GRCm39) |
Y111C |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,842,486 (GRCm39) |
N61S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Sash1 |
G |
T |
10: 8,605,391 (GRCm39) |
P1000T |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,222,149 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,473,771 (GRCm39) |
T765A |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 116,004,105 (GRCm39) |
M1V |
probably null |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Trim43b |
A |
G |
9: 88,973,400 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,576,276 (GRCm39) |
S900R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,041,208 (GRCm39) |
C747Y |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,077 (GRCm39) |
Y83F |
probably benign |
Het |
| Zfp536 |
A |
T |
7: 37,268,975 (GRCm39) |
L147Q |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
| Zswim2 |
G |
A |
2: 83,746,338 (GRCm39) |
H367Y |
probably damaging |
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 |
|
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 |
|
R6734:Galnt9
|
UTSW |
5 |
110,768,465 (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'- CCCATTGTACACTGGGTTACCTAG -3'
(R):5'- AATGCAAAGAGAGCGCTACC -3'
Sequencing Primer
(F):5'- ACACTGGGTTACCTAGCATGTTG -3'
(R):5'- AGAGCGCTACCATGCAGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation