Incidental Mutation 'R6051:Galnt6'
| ID |
484115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt6
|
| Ensembl Gene |
ENSMUSG00000037280 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 6 |
| Synonyms |
GalNAc-T6 |
| MMRRC Submission |
044219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R6051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
100589694-100627257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100592549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 553
(C553S)
|
| 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: C553S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: C553S
| 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: C553S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: C553S
| 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: C553S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: C553S
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,231,304 (GRCm39) |
A1021S |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,469,655 (GRCm39) |
D869G |
probably damaging |
Het |
| Adamts9 |
G |
A |
6: 92,836,907 (GRCm39) |
A615V |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,867,099 (GRCm39) |
Y96H |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,640,345 (GRCm39) |
I238T |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,790,422 (GRCm39) |
H1587Q |
possibly damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,179 (GRCm39) |
T225A |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,081,657 (GRCm39) |
Y87H |
possibly damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,072 (GRCm39) |
E160K |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,107,219 (GRCm39) |
*638W |
probably null |
Het |
| Chd2 |
A |
T |
7: 73,085,590 (GRCm39) |
D1681E |
probably benign |
Het |
| Cit |
C |
T |
5: 115,984,464 (GRCm39) |
P12L |
probably benign |
Het |
| Cracdl |
G |
T |
1: 37,663,306 (GRCm39) |
P864Q |
probably damaging |
Het |
| Crisp1 |
T |
C |
17: 40,616,017 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,049,610 (GRCm39) |
D46G |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,971 (GRCm39) |
V387D |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,062 (GRCm39) |
H194R |
probably benign |
Het |
| Egfr |
C |
A |
11: 16,833,607 (GRCm39) |
T625N |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,286,751 (GRCm39) |
V924A |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,973,427 (GRCm39) |
|
probably null |
Het |
| Gm5617 |
T |
C |
9: 48,407,187 (GRCm39) |
L107P |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,800,887 (GRCm39) |
T2035N |
probably benign |
Het |
| Hp1bp3 |
A |
G |
4: 137,961,615 (GRCm39) |
T154A |
possibly damaging |
Het |
| Il10rb |
A |
G |
16: 91,218,752 (GRCm39) |
T262A |
probably benign |
Het |
| Kansl1l |
A |
T |
1: 66,765,885 (GRCm39) |
N704K |
probably null |
Het |
| Kbtbd12 |
T |
C |
6: 88,594,930 (GRCm39) |
D300G |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,943,898 (GRCm39) |
A734T |
probably benign |
Het |
| Mllt6 |
G |
T |
11: 97,571,569 (GRCm39) |
G1069* |
probably null |
Het |
| Mns1 |
T |
C |
9: 72,356,735 (GRCm39) |
L302P |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,365,594 (GRCm39) |
C2039S |
possibly damaging |
Het |
| Myof |
A |
G |
19: 38,012,809 (GRCm39) |
L42P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,900,685 (GRCm39) |
L868S |
probably damaging |
Het |
| Ndc80 |
C |
T |
17: 71,824,573 (GRCm39) |
G212E |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,657 (GRCm39) |
H610R |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,742 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,084 (GRCm39) |
F18S |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,350,477 (GRCm39) |
S41P |
probably benign |
Het |
| Phactr2 |
A |
T |
10: 13,137,555 (GRCm39) |
C196S |
probably null |
Het |
| Ppp3ca |
T |
A |
3: 136,581,883 (GRCm39) |
Y140N |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,176,995 (GRCm39) |
Y1260* |
probably null |
Het |
| Rap1a |
C |
T |
3: 105,657,613 (GRCm39) |
R2H |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,664 (GRCm39) |
V794I |
probably benign |
Het |
| Rbks |
T |
C |
5: 31,809,163 (GRCm39) |
N200S |
probably damaging |
Het |
| Relch |
G |
T |
1: 105,648,997 (GRCm39) |
G712V |
probably damaging |
Het |
| Rnf186 |
G |
T |
4: 138,695,277 (GRCm39) |
K272N |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,458 (GRCm39) |
P794S |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,132,750 (GRCm39) |
I205F |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,290,153 (GRCm39) |
P261S |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,073 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,737,805 (GRCm39) |
S4245P |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,978 (GRCm39) |
I237F |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,097,896 (GRCm39) |
H57L |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,960,809 (GRCm39) |
N40S |
possibly damaging |
Het |
| Xcr1 |
A |
T |
9: 123,685,181 (GRCm39) |
F194I |
probably benign |
Het |
| Zmiz1 |
T |
A |
14: 25,572,494 (GRCm39) |
M1K |
probably null |
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 |
|
R5949:Galnt6
|
UTSW |
15 |
100,594,431 (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'- TGCTCTAATCCCGTGGTGC -3'
(R):5'- GATACAAAGTCTTGGCACAGC -3'
Sequencing Primer
(F):5'- TCTAATCCCGTGGTGCTCAGG -3'
(R):5'- AAAGTCTTGGCACAGCTCCCTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation