Incidental Mutation 'R5949:Galnt6'
| ID |
472351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt6
|
| Ensembl Gene |
ENSMUSG00000037280 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 6 |
| Synonyms |
GalNAc-T6 |
| MMRRC Submission |
044139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R5949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100589694-100627257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100594431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 533
(N533K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052069]
[ENSMUST00000159715]
[ENSMUST00000161514]
|
| AlphaFold |
Q8C7U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052069
AA Change: N533K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: N533K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
177 |
431 |
4.2e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
180 |
366 |
8.8e-36 |
PFAM |
|
Pfam:Glyco_transf_7C
|
337 |
415 |
8.5e-14 |
PFAM |
|
RICIN
|
496 |
622 |
1.53e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159715
AA Change: N533K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: N533K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
177 |
432 |
1e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
180 |
366 |
4.1e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
337 |
415 |
6.7e-13 |
PFAM |
|
RICIN
|
496 |
622 |
1.53e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160960
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161514
AA Change: N533K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: N533K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
177 |
431 |
4.2e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
180 |
366 |
8.8e-36 |
PFAM |
|
Pfam:Glyco_transf_7C
|
337 |
415 |
8.5e-14 |
PFAM |
|
RICIN
|
496 |
622 |
1.53e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229410
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
92% (58/63) |
| 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. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,032 (GRCm39) |
Y1452C |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,367,386 (GRCm39) |
H552L |
possibly damaging |
Het |
| Alms1-ps1 |
A |
T |
6: 85,698,943 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
A |
G |
2: 20,853,852 (GRCm39) |
S1837P |
probably damaging |
Het |
| Atad5 |
G |
T |
11: 79,986,835 (GRCm39) |
E641* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,247,242 (GRCm39) |
T276S |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,001,915 (GRCm39) |
I399T |
probably damaging |
Het |
| Carf |
A |
C |
1: 60,178,472 (GRCm39) |
K295T |
probably damaging |
Het |
| Cd209d |
T |
A |
8: 3,927,949 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Cdh2 |
T |
A |
18: 16,734,687 (GRCm39) |
I779F |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,247 (GRCm39) |
R988H |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,660,887 (GRCm39) |
H600Q |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,730 (GRCm39) |
T487M |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,036,557 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,874 (GRCm39) |
C427R |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,747 (GRCm39) |
K187E |
possibly damaging |
Het |
| Emb |
A |
G |
13: 117,403,928 (GRCm39) |
I227V |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,597,816 (GRCm39) |
S538T |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,886,147 (GRCm39) |
D499G |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,440,904 (GRCm39) |
N421D |
probably benign |
Het |
| Ifng |
G |
C |
10: 118,278,529 (GRCm39) |
M63I |
probably benign |
Het |
| Ighv1-43 |
A |
G |
12: 114,910,002 (GRCm39) |
M1T |
probably null |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,476 (GRCm39) |
C299S |
probably damaging |
Het |
| Lrrn1 |
G |
T |
6: 107,544,465 (GRCm39) |
V88L |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 130,985,742 (GRCm39) |
V173A |
possibly damaging |
Het |
| Mrap2 |
T |
G |
9: 87,064,658 (GRCm39) |
V133G |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,989,815 (GRCm39) |
D984V |
probably damaging |
Het |
| Or4c125 |
A |
G |
2: 89,170,229 (GRCm39) |
V139A |
probably damaging |
Het |
| Or5p59 |
T |
C |
7: 107,703,404 (GRCm39) |
L296P |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,996 (GRCm39) |
Y488H |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,536,284 (GRCm39) |
P313L |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,296,179 (GRCm39) |
C839R |
probably damaging |
Het |
| Rdh5 |
C |
A |
10: 128,754,136 (GRCm39) |
R29L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,554,429 (GRCm39) |
D90G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,333,905 (GRCm39) |
Y3038C |
probably damaging |
Het |
| Sec14l2 |
A |
T |
11: 4,058,972 (GRCm39) |
V191D |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,690,759 (GRCm39) |
Y118C |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,222,934 (GRCm39) |
|
probably null |
Het |
| Stab2 |
A |
G |
10: 86,805,713 (GRCm39) |
L211P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,038,876 (GRCm39) |
C289R |
probably benign |
Het |
| Tfpi |
T |
C |
2: 84,275,092 (GRCm39) |
E172G |
probably benign |
Het |
| Tmem106b |
T |
A |
6: 13,083,418 (GRCm39) |
M229K |
probably damaging |
Het |
| Tsfm |
G |
A |
10: 126,864,244 (GRCm39) |
T157M |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,608,244 (GRCm39) |
A17893V |
possibly damaging |
Het |
| Vps39 |
A |
G |
2: 120,159,149 (GRCm39) |
Y380H |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,559,309 (GRCm39) |
R383C |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,233,541 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Galnt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02024:Galnt6
|
APN |
15 |
100,601,374 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02606:Galnt6
|
APN |
15 |
100,612,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Galnt6
|
UTSW |
15 |
100,591,352 (GRCm39) |
splice site |
probably null |
|
|
R0336:Galnt6
|
UTSW |
15 |
100,597,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Galnt6
|
UTSW |
15 |
100,594,538 (GRCm39) |
splice site |
probably benign |
|
|
R1563:Galnt6
|
UTSW |
15 |
100,601,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1903:Galnt6
|
UTSW |
15 |
100,613,999 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2007:Galnt6
|
UTSW |
15 |
100,595,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Galnt6
|
UTSW |
15 |
100,612,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2943:Galnt6
|
UTSW |
15 |
100,612,160 (GRCm39) |
splice site |
probably null |
|
|
R3410:Galnt6
|
UTSW |
15 |
100,597,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Galnt6
|
UTSW |
15 |
100,595,049 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4754:Galnt6
|
UTSW |
15 |
100,597,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Galnt6
|
UTSW |
15 |
100,614,059 (GRCm39) |
missense |
probably benign |
|
|
R4911:Galnt6
|
UTSW |
15 |
100,614,059 (GRCm39) |
missense |
probably benign |
|
|
R4962:Galnt6
|
UTSW |
15 |
100,594,455 (GRCm39) |
nonsense |
probably null |
|
|
R5237:Galnt6
|
UTSW |
15 |
100,591,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Galnt6
|
UTSW |
15 |
100,601,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5605:Galnt6
|
UTSW |
15 |
100,595,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Galnt6
|
UTSW |
15 |
100,602,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Galnt6
|
UTSW |
15 |
100,592,527 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6051:Galnt6
|
UTSW |
15 |
100,592,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Galnt6
|
UTSW |
15 |
100,591,305 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6522:Galnt6
|
UTSW |
15 |
100,591,236 (GRCm39) |
makesense |
probably null |
|
|
R6959:Galnt6
|
UTSW |
15 |
100,612,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7154:Galnt6
|
UTSW |
15 |
100,591,345 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7450:Galnt6
|
UTSW |
15 |
100,595,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Galnt6
|
UTSW |
15 |
100,611,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Galnt6
|
UTSW |
15 |
100,601,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Galnt6
|
UTSW |
15 |
100,614,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8212:Galnt6
|
UTSW |
15 |
100,591,308 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8683:Galnt6
|
UTSW |
15 |
100,592,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Galnt6
|
UTSW |
15 |
100,592,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8906:Galnt6
|
UTSW |
15 |
100,601,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Galnt6
|
UTSW |
15 |
100,602,032 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9794:Galnt6
|
UTSW |
15 |
100,595,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTCCTCATCCTCTAGTG -3'
(R):5'- TGCTATTAGCTCCAGGCATC -3'
Sequencing Primer
(F):5'- ACAGTGCCAGCTCTGTGTC -3'
(R):5'- ATCTGGGCTCACACACAGAGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation