Incidental Mutation 'R4634:Sec1'
| ID |
349405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec1
|
| Ensembl Gene |
ENSMUSG00000040364 |
| Gene Name |
secretory blood group 1 |
| Synonyms |
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase FUT-III, Fut3 |
| MMRRC Submission |
042009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45327110-45343825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45328297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 250
(Y250F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040636]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040636
AA Change: Y250F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364
AA Change: Y250F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_11
|
55 |
362 |
1.6e-146 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. This gene is predicted to encode a type II membrane protein, which is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,456,278 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,443,033 (GRCm39) |
T77A |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,741,537 (GRCm39) |
M311V |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,774,948 (GRCm39) |
I1052N |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ceacam16 |
T |
A |
7: 19,592,531 (GRCm39) |
M126L |
probably benign |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Cln8 |
C |
T |
8: 14,944,842 (GRCm39) |
T52I |
probably damaging |
Het |
| Cops2 |
C |
A |
2: 125,682,400 (GRCm39) |
D194Y |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,656,483 (GRCm39) |
V71M |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,058,372 (GRCm39) |
F183S |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,643,832 (GRCm39) |
K375N |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,185,981 (GRCm39) |
G1596C |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,546 (GRCm39) |
D390V |
possibly damaging |
Het |
| Gm42669 |
A |
T |
5: 107,656,079 (GRCm39) |
I781F |
possibly damaging |
Het |
| Gprin1 |
G |
T |
13: 54,885,871 (GRCm39) |
P801Q |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,765,150 (GRCm39) |
S609R |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,033,292 (GRCm39) |
K1853N |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,437 (GRCm39) |
I4V |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,447 (GRCm39) |
Y211H |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,706 (GRCm39) |
N967K |
possibly damaging |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rabepk |
A |
G |
2: 34,670,752 (GRCm39) |
M228T |
probably damaging |
Het |
| Rcn3 |
T |
A |
7: 44,738,092 (GRCm39) |
D92V |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,498,693 (GRCm39) |
T334A |
probably benign |
Het |
| Trip11 |
G |
T |
12: 101,803,875 (GRCm39) |
T1669K |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,570,673 (GRCm39) |
L1091P |
probably damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,660 (GRCm39) |
V85A |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,663 (GRCm39) |
C181R |
probably benign |
Het |
|
| Other mutations in Sec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0034:Sec1
|
UTSW |
7 |
45,328,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0076:Sec1
|
UTSW |
7 |
45,328,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Sec1
|
UTSW |
7 |
45,328,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Sec1
|
UTSW |
7 |
45,328,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1780:Sec1
|
UTSW |
7 |
45,328,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3498:Sec1
|
UTSW |
7 |
45,328,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4822:Sec1
|
UTSW |
7 |
45,328,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Sec1
|
UTSW |
7 |
45,328,264 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7371:Sec1
|
UTSW |
7 |
45,328,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Sec1
|
UTSW |
7 |
45,334,149 (GRCm39) |
splice site |
probably null |
|
|
R8868:Sec1
|
UTSW |
7 |
45,328,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Sec1
|
UTSW |
7 |
45,328,897 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9081:Sec1
|
UTSW |
7 |
45,333,987 (GRCm39) |
intron |
probably benign |
|
|
R9199:Sec1
|
UTSW |
7 |
45,328,009 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9485:Sec1
|
UTSW |
7 |
45,328,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9591:Sec1
|
UTSW |
7 |
45,328,102 (GRCm39) |
missense |
|
|
|
R9647:Sec1
|
UTSW |
7 |
45,328,556 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTAGCCAGGTAAACAGTGTC -3'
(R):5'- TGAAGGAGTTCACCCTGCAC -3'
Sequencing Primer
(F):5'- AAAGGTCCCCAGCGTGATGAC -3'
(R):5'- ACGACCATGTGCGTGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation