Incidental Mutation 'R1335:Galnt14'
| ID |
156856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt14
|
| Ensembl Gene |
ENSMUSG00000024064 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 14 |
| Synonyms |
0610033M06Rik |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73800223-74017448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73833285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 230
(I230F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024858]
[ENSMUST00000112591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024858
AA Change: I230F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064
AA Change: I230F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
111 |
359 |
1.4e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
114 |
294 |
7.5e-30 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
114 |
333 |
1.5e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
271 |
340 |
7e-8 |
PFAM |
|
RICIN
|
420 |
548 |
7.23e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112591
AA Change: I230F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108210
Gene: ENSMUSG00000024064
AA Change: I230F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
111 |
359 |
1.1e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
114 |
291 |
2.4e-27 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
114 |
333 |
1.7e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
270 |
340 |
9e-8 |
PFAM |
|
low complexity region
|
415 |
429 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3040 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,922,027 (GRCm39) |
D185V |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,699,923 (GRCm39) |
H52L |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
C |
T |
1: 184,536,138 (GRCm39) |
R98Q |
probably benign |
Het |
| Ndrg3 |
T |
C |
2: 156,787,928 (GRCm39) |
|
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Phf24 |
G |
A |
4: 42,934,657 (GRCm39) |
V98I |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,585 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Galnt14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Galnt14
|
APN |
17 |
73,801,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Galnt14
|
APN |
17 |
73,811,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01578:Galnt14
|
APN |
17 |
73,842,361 (GRCm39) |
splice site |
probably benign |
|
|
IGL01833:Galnt14
|
APN |
17 |
73,811,899 (GRCm39) |
missense |
probably benign |
|
|
IGL02572:Galnt14
|
APN |
17 |
73,842,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Galnt14
|
APN |
17 |
73,816,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03145:Galnt14
|
APN |
17 |
73,811,903 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03175:Galnt14
|
APN |
17 |
73,829,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Galnt14
|
UTSW |
17 |
73,814,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0112:Galnt14
|
UTSW |
17 |
73,881,979 (GRCm39) |
splice site |
probably benign |
|
|
R0167:Galnt14
|
UTSW |
17 |
73,829,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Galnt14
|
UTSW |
17 |
73,852,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Galnt14
|
UTSW |
17 |
73,852,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1192:Galnt14
|
UTSW |
17 |
73,852,133 (GRCm39) |
splice site |
probably benign |
|
|
R1549:Galnt14
|
UTSW |
17 |
73,832,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1824:Galnt14
|
UTSW |
17 |
74,016,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2061:Galnt14
|
UTSW |
17 |
73,819,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Galnt14
|
UTSW |
17 |
73,801,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3844:Galnt14
|
UTSW |
17 |
74,016,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4257:Galnt14
|
UTSW |
17 |
73,811,899 (GRCm39) |
missense |
probably benign |
|
|
R4364:Galnt14
|
UTSW |
17 |
73,819,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4664:Galnt14
|
UTSW |
17 |
73,814,808 (GRCm39) |
intron |
probably benign |
|
|
R4744:Galnt14
|
UTSW |
17 |
73,814,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Galnt14
|
UTSW |
17 |
73,819,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4840:Galnt14
|
UTSW |
17 |
73,811,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4846:Galnt14
|
UTSW |
17 |
73,843,888 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5328:Galnt14
|
UTSW |
17 |
73,812,454 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5507:Galnt14
|
UTSW |
17 |
73,802,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5816:Galnt14
|
UTSW |
17 |
73,881,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Galnt14
|
UTSW |
17 |
73,881,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Galnt14
|
UTSW |
17 |
73,833,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6490:Galnt14
|
UTSW |
17 |
73,832,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7117:Galnt14
|
UTSW |
17 |
73,801,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7128:Galnt14
|
UTSW |
17 |
73,852,096 (GRCm39) |
missense |
probably benign |
|
|
R7451:Galnt14
|
UTSW |
17 |
73,881,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7604:Galnt14
|
UTSW |
17 |
73,811,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7786:Galnt14
|
UTSW |
17 |
74,016,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8693:Galnt14
|
UTSW |
17 |
73,833,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Galnt14
|
UTSW |
17 |
73,802,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Galnt14
|
UTSW |
17 |
73,816,521 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGACCTGGACATGCCATACAAC -3'
(R):5'- TTTCTGGATGCCTGGACTTGCC -3'
Sequencing Primer
(F):5'- ggaagaggaggaggaaaagg -3'
(R):5'- GGTCCTCCCTGAAAACTGAA -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation