Incidental Mutation 'R8542:St6galnac6'
| ID |
659402 |
| 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 |
068507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R8542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32489721-32510818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32509513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 305
(I305N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072111]
[ENSMUST00000081879]
[ENSMUST00000095044]
[ENSMUST00000095045]
[ENSMUST00000113278]
[ENSMUST00000113290]
[ENSMUST00000126636]
[ENSMUST00000128811]
[ENSMUST00000131229]
[ENSMUST00000140983]
[ENSMUST00000143625]
[ENSMUST00000183538]
|
| AlphaFold |
Q9JM95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072111
AA Change: I325N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: I325N
| 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: I327N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: I327N
| 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: I325N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: I325N
| 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: I291N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: I291N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
41 |
307 |
1.8e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113278
|
| SMART Domains |
Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
10 |
159 |
2.7e-10 |
PFAM |
|
Pfam:AAA_17
|
10 |
171 |
5.4e-11 |
PFAM |
|
Pfam:AAA_18
|
11 |
149 |
7.6e-8 |
PFAM |
|
Pfam:ADK
|
13 |
169 |
7.5e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113290
AA Change: I291N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: I291N
| 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 damaging
Transcript: ENSMUST00000131229
AA Change: I305N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: I305N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
35 |
176 |
3.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140983
|
| SMART Domains |
Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
21 |
229 |
7.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183538
|
| SMART Domains |
Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
| 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 |
100% (58/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,634,369 (GRCm39) |
T634A |
probably benign |
Het |
| Abca12 |
C |
T |
1: 71,349,047 (GRCm39) |
|
probably null |
Het |
| Acsl5 |
A |
G |
19: 55,280,259 (GRCm39) |
T511A |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,478,275 (GRCm39) |
F212S |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,589,353 (GRCm39) |
I191V |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,428,385 (GRCm39) |
Q254R |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,121,208 (GRCm39) |
D957G |
probably benign |
Het |
| Bag6 |
G |
A |
17: 35,363,334 (GRCm39) |
G725S |
probably damaging |
Het |
| Braf |
T |
C |
6: 39,604,693 (GRCm39) |
H592R |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,185,405 (GRCm39) |
D500V |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,239,662 (GRCm39) |
|
probably null |
Het |
| Defa3 |
T |
A |
8: 21,778,179 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,231,688 (GRCm39) |
H3272Y |
possibly damaging |
Het |
| Egfl8 |
A |
G |
17: 34,833,243 (GRCm39) |
C168R |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,174,055 (GRCm39) |
M240L |
possibly damaging |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Ier5l |
A |
G |
2: 30,362,948 (GRCm39) |
I359T |
possibly damaging |
Het |
| Impg1 |
C |
T |
9: 80,312,080 (GRCm39) |
E168K |
probably damaging |
Het |
| Iqcn |
C |
A |
8: 71,166,520 (GRCm39) |
|
probably null |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kctd2 |
G |
T |
11: 115,320,310 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,533,512 (GRCm39) |
M534L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,396,495 (GRCm39) |
V267D |
possibly damaging |
Het |
| Klra3 |
A |
T |
6: 130,310,096 (GRCm39) |
|
probably null |
Het |
| Lmod1 |
T |
C |
1: 135,292,221 (GRCm39) |
F359L |
possibly damaging |
Het |
| Mmp24 |
A |
G |
2: 155,641,634 (GRCm39) |
E154G |
probably benign |
Het |
| Morc3 |
G |
T |
16: 93,644,319 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
A |
C |
5: 148,240,408 (GRCm39) |
K85T |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,419,898 (GRCm39) |
T806K |
probably damaging |
Het |
| Noc2l |
A |
G |
4: 156,326,187 (GRCm39) |
T425A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,196 (GRCm39) |
Q376L |
probably benign |
Het |
| Or52m2 |
A |
G |
7: 102,263,872 (GRCm39) |
V108A |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,570,071 (GRCm39) |
Y272N |
probably damaging |
Het |
| Pfkp |
G |
T |
13: 6,631,557 (GRCm39) |
A166E |
possibly damaging |
Het |
| Pnpt1 |
C |
A |
11: 29,082,773 (GRCm39) |
|
probably null |
Het |
| Prss40 |
A |
G |
1: 34,596,967 (GRCm39) |
W76R |
probably damaging |
Het |
| Rbms1 |
A |
C |
2: 60,612,265 (GRCm39) |
V165G |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rpl3l |
A |
G |
17: 24,954,754 (GRCm39) |
D369G |
probably damaging |
Het |
| Sdr42e2 |
C |
A |
7: 120,417,137 (GRCm39) |
P194Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,566,401 (GRCm39) |
S111P |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,807,834 (GRCm39) |
E1288G |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,935,783 (GRCm39) |
E1755G |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,461,139 (GRCm39) |
D895V |
probably damaging |
Het |
| Tmem190 |
T |
A |
7: 4,787,157 (GRCm39) |
C120* |
probably null |
Het |
| Tmem209 |
C |
A |
6: 30,497,237 (GRCm39) |
V318F |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,876,851 (GRCm39) |
I196F |
probably damaging |
Het |
| Trpc4ap |
G |
C |
2: 155,534,132 (GRCm39) |
P32R |
unknown |
Het |
| Usp20 |
T |
G |
2: 30,901,636 (GRCm39) |
V467G |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,410,787 (GRCm39) |
K206R |
probably damaging |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
C |
A |
7: 127,210,364 (GRCm39) |
E482* |
probably null |
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 |
|
|
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 |
|
R9426:St6galnac6
|
UTSW |
2 |
32,505,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9753:St6galnac6
|
UTSW |
2 |
32,502,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGCTATGCCCAGCCAG -3'
(R):5'- TCCAAATCCCTGATTGGCCAAG -3'
Sequencing Primer
(F):5'- GTGTGTCACCTACATCCA -3'
(R):5'- TGTATCTGTCCGAGATCG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation