Incidental Mutation 'R4567:Alg12'
| ID |
343365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg12
|
| Ensembl Gene |
ENSMUSG00000035845 |
| Gene Name |
ALG12 alpha-1,6-mannosyltransferase |
| Synonyms |
ECM39, mannosyltransferase |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88689448-88703498 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 88690556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043087]
[ENSMUST00000043087]
[ENSMUST00000162183]
[ENSMUST00000162183]
|
| AlphaFold |
Q8VDB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043087
|
| SMART Domains |
Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
267 |
4e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043087
|
| SMART Domains |
Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
267 |
4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162183
|
| SMART Domains |
Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
406 |
3.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162183
|
| SMART Domains |
Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
15 |
406 |
3.3e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| 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 glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
| Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
probably damaging |
Het |
|
| Other mutations in Alg12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02557:Alg12
|
APN |
15 |
88,700,410 (GRCm39) |
nonsense |
probably null |
|
|
R0077:Alg12
|
UTSW |
15 |
88,700,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Alg12
|
UTSW |
15 |
88,700,352 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0485:Alg12
|
UTSW |
15 |
88,695,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0726:Alg12
|
UTSW |
15 |
88,690,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Alg12
|
UTSW |
15 |
88,696,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Alg12
|
UTSW |
15 |
88,698,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4718:Alg12
|
UTSW |
15 |
88,690,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Alg12
|
UTSW |
15 |
88,700,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Alg12
|
UTSW |
15 |
88,698,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5059:Alg12
|
UTSW |
15 |
88,695,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Alg12
|
UTSW |
15 |
88,690,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Alg12
|
UTSW |
15 |
88,690,084 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8358:Alg12
|
UTSW |
15 |
88,695,503 (GRCm39) |
missense |
probably null |
0.01 |
|
R8445:Alg12
|
UTSW |
15 |
88,698,689 (GRCm39) |
missense |
probably benign |
|
|
R9471:Alg12
|
UTSW |
15 |
88,690,621 (GRCm39) |
nonsense |
probably null |
|
|
R9771:Alg12
|
UTSW |
15 |
88,700,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTGTGAGAAGCAACTAG -3'
(R):5'- TTAGTCCAAGTGCTCCCTGAG -3'
Sequencing Primer
(F):5'- CTCTGTGAGAAGCAACTAGACCTG -3'
(R):5'- TCCAAGTGCTCCCTGAGGAAAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation