Incidental Mutation 'R9426:St6galnac6'
| ID |
712608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St6galnac6
|
| Ensembl Gene |
ENSMUSG00000026811 |
| Gene Name |
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
| Synonyms |
ST6GalNAcVI, Siat7f |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R9426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32489721-32510818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32505094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 202
(I202T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072111]
[ENSMUST00000081879]
[ENSMUST00000095044]
[ENSMUST00000095045]
[ENSMUST00000113290]
[ENSMUST00000126636]
[ENSMUST00000128811]
[ENSMUST00000129165]
[ENSMUST00000131229]
[ENSMUST00000140983]
[ENSMUST00000143625]
[ENSMUST00000183538]
|
| AlphaFold |
Q9JM95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072111
AA Change: I200T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: I200T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
55 |
328 |
2.5e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081879
AA Change: I202T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: I202T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
62 |
329 |
2.1e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095044
AA Change: I200T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: I200T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
55 |
328 |
2.5e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095045
AA Change: I166T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: I166T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
41 |
307 |
1.8e-36 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: I166T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
21 |
294 |
1.7e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128811
|
| SMART Domains |
Protein: ENSMUSP00000118893
Gene: ENSMUSG00000026811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
20 |
108 |
7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129165
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131229
AA Change: I180T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: I180T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
35 |
176 |
3.3e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140983
AA Change: I166T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: I166T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
21 |
229 |
7.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143625
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183538
AA Change: I200T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: I200T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
55 |
232 |
4.8e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
| Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,034 (GRCm39) |
F908S |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
| Asmt |
G |
A |
X: 169,110,199 (GRCm39) |
G236E |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,220 (GRCm39) |
Y177C |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,814,237 (GRCm39) |
I199T |
probably damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,914 (GRCm39) |
F172Y |
possibly damaging |
Het |
| Cldnd2 |
A |
T |
7: 43,092,688 (GRCm39) |
I160F |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
C |
G |
1: 55,106,719 (GRCm39) |
L175V |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,751,176 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,843,281 (GRCm39) |
H723L |
possibly damaging |
Het |
| Fhod1 |
C |
T |
8: 106,056,490 (GRCm39) |
R1100Q |
probably benign |
Het |
| Hao1 |
T |
A |
2: 134,347,555 (GRCm39) |
H250L |
probably benign |
Het |
| Has3 |
A |
G |
8: 107,600,823 (GRCm39) |
Y95C |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,879,289 (GRCm39) |
K270* |
probably null |
Het |
| Kcnq5 |
A |
G |
1: 21,473,118 (GRCm39) |
F710L |
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,979 (GRCm39) |
T560I |
possibly damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
| Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,625 (GRCm39) |
L141* |
probably null |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prkcg |
C |
T |
7: 3,375,975 (GRCm39) |
S540F |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,828,491 (GRCm39) |
S34G |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
| Snrk |
T |
A |
9: 121,986,326 (GRCm39) |
Y232N |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,834 (GRCm39) |
L56* |
probably null |
Het |
| Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
| Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
| Tcp10c |
T |
C |
17: 13,584,463 (GRCm39) |
S275P |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably damaging |
Het |
|
| Other mutations in St6galnac6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02736:St6galnac6
|
APN |
2 |
32,504,983 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0097:St6galnac6
|
UTSW |
2 |
32,489,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1547:St6galnac6
|
UTSW |
2 |
32,504,977 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1654:St6galnac6
|
UTSW |
2 |
32,509,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:St6galnac6
|
UTSW |
2 |
32,505,036 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4744:St6galnac6
|
UTSW |
2 |
32,508,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:St6galnac6
|
UTSW |
2 |
32,498,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5169:St6galnac6
|
UTSW |
2 |
32,504,857 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6037:St6galnac6
|
UTSW |
2 |
32,502,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:St6galnac6
|
UTSW |
2 |
32,502,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:St6galnac6
|
UTSW |
2 |
32,504,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8445:St6galnac6
|
UTSW |
2 |
32,498,532 (GRCm39) |
intron |
probably benign |
|
|
R8542:St6galnac6
|
UTSW |
2 |
32,509,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:St6galnac6
|
UTSW |
2 |
32,505,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9299:St6galnac6
|
UTSW |
2 |
32,502,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9753:St6galnac6
|
UTSW |
2 |
32,502,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCACCATCCGCATGAAC -3'
(R):5'- GCAAGAAGTGACTAGAGCCTC -3'
Sequencing Primer
(F):5'- ATGAACGATGCTCCCACCTCTG -3'
(R):5'- TGACTAGAGCCTCAACAGTGCATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation