Incidental Mutation 'R5752:Galnt6'
ID |
444865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt6
|
Ensembl Gene |
ENSMUSG00000037280 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 6 |
Synonyms |
GalNAc-T6 |
MMRRC Submission |
043357-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R5752 (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 100602007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 267
(F267I)
|
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: F267I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056705 Gene: ENSMUSG00000037280 AA Change: F267I
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: F267I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123848 Gene: ENSMUSG00000037280 AA Change: F267I
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: F267I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124793 Gene: ENSMUSG00000037280 AA Change: F267I
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: ENSMUST00000229410
|
Meta Mutation Damage Score |
0.5312 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (58/59) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
C |
A |
17: 47,200,966 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
C |
A |
10: 83,356,244 (GRCm39) |
G49C |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,419,725 (GRCm39) |
E11K |
probably damaging |
Het |
Asns |
C |
T |
6: 7,689,365 (GRCm39) |
G46S |
probably damaging |
Het |
Atrn |
G |
T |
2: 130,748,464 (GRCm39) |
|
probably benign |
Het |
Cep126 |
A |
C |
9: 8,120,746 (GRCm39) |
Y92* |
probably null |
Het |
Cfap69 |
T |
C |
5: 5,639,204 (GRCm39) |
T567A |
probably damaging |
Het |
Clgn |
T |
A |
8: 84,123,670 (GRCm39) |
Y61N |
probably damaging |
Het |
Col28a1 |
T |
G |
6: 8,015,025 (GRCm39) |
K793N |
possibly damaging |
Het |
Cxcl9 |
C |
A |
5: 92,471,715 (GRCm39) |
M108I |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,850,306 (GRCm39) |
I318F |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,993,320 (GRCm39) |
M363T |
unknown |
Het |
Dnajc13 |
A |
C |
9: 104,069,973 (GRCm39) |
|
probably null |
Het |
Entpd2 |
G |
A |
2: 25,289,781 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,526,053 (GRCm39) |
N205K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,180,063 (GRCm39) |
F1426Y |
possibly damaging |
Het |
Gm1322 |
G |
A |
2: 67,014,979 (GRCm39) |
|
noncoding transcript |
Het |
Hdgfl3 |
A |
C |
7: 81,549,451 (GRCm39) |
S143A |
possibly damaging |
Het |
Ints7 |
T |
A |
1: 191,308,005 (GRCm39) |
D12E |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,037,037 (GRCm39) |
T114A |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,185,624 (GRCm39) |
Y1364H |
probably damaging |
Het |
Mef2b |
A |
G |
8: 70,618,267 (GRCm39) |
T116A |
possibly damaging |
Het |
Megf8 |
C |
T |
7: 25,054,539 (GRCm39) |
T1885I |
probably damaging |
Het |
Mrps11 |
A |
G |
7: 78,433,343 (GRCm39) |
K30E |
probably benign |
Het |
Naca |
T |
A |
10: 127,877,797 (GRCm39) |
|
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,349 (GRCm39) |
|
noncoding transcript |
Het |
Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
Or2at1 |
T |
C |
7: 99,417,155 (GRCm39) |
I262T |
probably benign |
Het |
Paip2b |
C |
T |
6: 83,808,252 (GRCm39) |
|
probably null |
Het |
Plcb2 |
G |
T |
2: 118,541,532 (GRCm39) |
|
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,587,131 (GRCm39) |
|
probably null |
Het |
Pnpla8 |
A |
G |
12: 44,329,670 (GRCm39) |
N74S |
probably benign |
Het |
Pot1b |
A |
T |
17: 55,994,834 (GRCm39) |
I276N |
probably damaging |
Het |
Qprt |
C |
T |
7: 126,708,416 (GRCm39) |
G5D |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,614 (GRCm39) |
N154S |
probably damaging |
Het |
Rin3 |
G |
A |
12: 102,279,378 (GRCm39) |
|
probably benign |
Het |
Sdf4 |
C |
T |
4: 156,080,761 (GRCm39) |
P37S |
probably damaging |
Het |
Selp |
A |
T |
1: 163,964,811 (GRCm39) |
D491V |
probably damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,824,696 (GRCm39) |
|
probably benign |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,891,016 (GRCm39) |
Y268C |
probably damaging |
Het |
Tas2r134 |
A |
G |
2: 51,517,880 (GRCm39) |
R120G |
probably damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,287,673 (GRCm39) |
R509G |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,314,753 (GRCm39) |
Y231N |
probably damaging |
Het |
Top6bl |
C |
A |
19: 4,676,048 (GRCm39) |
A695S |
probably benign |
Het |
Ttc41 |
C |
T |
10: 86,594,210 (GRCm39) |
T881I |
probably benign |
Het |
Ttll8 |
T |
C |
15: 88,816,931 (GRCm39) |
Y271C |
probably benign |
Het |
Ttn |
A |
T |
2: 76,778,328 (GRCm39) |
I1307K |
possibly damaging |
Het |
Ube2k |
A |
G |
5: 65,723,411 (GRCm39) |
D48G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,069 (GRCm39) |
T3126A |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,875,540 (GRCm39) |
T1656A |
probably benign |
Het |
Zzz3 |
C |
A |
3: 152,157,759 (GRCm39) |
S777R |
possibly damaging |
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 |
R5837:Galnt6
|
UTSW |
15 |
100,592,527 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5949:Galnt6
|
UTSW |
15 |
100,594,431 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGTGTGTCAACTCCCACTGTAG -3'
(R):5'- ATTAGTGAGGTGCTGGTCAC -3'
Sequencing Primer
(F):5'- GCACACTCGCCAGCCTTTG -3'
(R):5'- ACAGTGGCCGTGTCCCTTC -3'
|
Posted On |
2016-11-21 |