Incidental Mutation 'R5716:Alg1'
| ID |
451192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg1
|
| Ensembl Gene |
ENSMUSG00000039427 |
| Gene Name |
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
| Synonyms |
HMT1, HMAT1 |
| MMRRC Submission |
043187-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
5051485-5062776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5057820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 238
(D238V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049207]
[ENSMUST00000064635]
[ENSMUST00000100196]
|
| AlphaFold |
Q921Q3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049207
AA Change: D238V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
AA Change: D238V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_1
|
246 |
422 |
8e-14 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
250 |
400 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064635
|
| SMART Domains |
Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM86
|
6 |
99 |
2.7e-42 |
PFAM |
|
Pfam:Methyltransf_16
|
119 |
299 |
2.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100196
AA Change: D264V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
AA Change: D264V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_1
|
270 |
447 |
2.4e-13 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
276 |
426 |
1.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153730
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,594 (GRCm39) |
V24A |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,846,217 (GRCm39) |
|
probably null |
Het |
| Acad12 |
A |
G |
5: 121,748,046 (GRCm39) |
V124A |
probably benign |
Het |
| Bcar3 |
A |
G |
3: 122,306,564 (GRCm39) |
E179G |
probably damaging |
Het |
| Brf2 |
A |
G |
8: 27,616,074 (GRCm39) |
S104P |
probably benign |
Het |
| Coq8a |
A |
T |
1: 180,006,825 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,193,709 (GRCm39) |
F924L |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,828 (GRCm39) |
C324F |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,990,494 (GRCm39) |
Y33H |
probably benign |
Het |
| Fry |
C |
T |
5: 150,293,686 (GRCm39) |
Q460* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,257,808 (GRCm39) |
I665V |
probably benign |
Het |
| Gpank1 |
A |
G |
17: 35,342,229 (GRCm39) |
K90E |
probably damaging |
Het |
| Hexd |
A |
G |
11: 121,112,388 (GRCm39) |
I482V |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,226,579 (GRCm39) |
E185K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,348,750 (GRCm39) |
E4922G |
possibly damaging |
Het |
| Ino80d |
A |
T |
1: 63,097,856 (GRCm39) |
D679E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,807,546 (GRCm39) |
C2608S |
probably benign |
Het |
| Kars1 |
T |
A |
8: 112,730,074 (GRCm39) |
|
probably null |
Het |
| Lcn2 |
A |
G |
2: 32,275,825 (GRCm39) |
V211A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,692 (GRCm39) |
V70E |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,208,798 (GRCm39) |
|
probably null |
Het |
| Megf11 |
T |
C |
9: 64,413,392 (GRCm39) |
F60L |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,675 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,100,596 (GRCm39) |
H4438L |
probably benign |
Het |
| Nuf2 |
C |
A |
1: 169,349,958 (GRCm39) |
V107F |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,424 (GRCm39) |
N136I |
probably benign |
Het |
| Or9i2 |
C |
T |
19: 13,816,003 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pabpn1l |
A |
G |
8: 123,347,160 (GRCm39) |
V215A |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,118,658 (GRCm39) |
I414V |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,255,638 (GRCm39) |
Y539H |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,638,828 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,889,389 (GRCm39) |
F56L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,967,105 (GRCm39) |
P816S |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,844 (GRCm39) |
L291P |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,343,147 (GRCm39) |
I1157L |
probably benign |
Het |
| Tmem184c |
T |
C |
8: 78,333,036 (GRCm39) |
H85R |
possibly damaging |
Het |
| Tmem94 |
T |
C |
11: 115,683,254 (GRCm39) |
V679A |
probably benign |
Het |
| Tpcn2 |
A |
C |
7: 144,811,550 (GRCm39) |
F566V |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,473 (GRCm39) |
N298D |
probably benign |
Het |
|
| Other mutations in Alg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01731:Alg1
|
APN |
16 |
5,062,383 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02536:Alg1
|
APN |
16 |
5,057,023 (GRCm39) |
nonsense |
probably null |
|
|
IGL02576:Alg1
|
APN |
16 |
5,062,393 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02961:Alg1
|
APN |
16 |
5,052,861 (GRCm39) |
missense |
probably benign |
0.45 |
|
FR4976:Alg1
|
UTSW |
16 |
5,062,425 (GRCm39) |
frame shift |
probably null |
|
|
R1378:Alg1
|
UTSW |
16 |
5,061,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Alg1
|
UTSW |
16 |
5,057,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3898:Alg1
|
UTSW |
16 |
5,054,253 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5589:Alg1
|
UTSW |
16 |
5,053,086 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8768:Alg1
|
UTSW |
16 |
5,060,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Alg1
|
UTSW |
16 |
5,051,532 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8868:Alg1
|
UTSW |
16 |
5,061,557 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9373:Alg1
|
UTSW |
16 |
5,056,990 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9386:Alg1
|
UTSW |
16 |
5,059,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9460:Alg1
|
UTSW |
16 |
5,060,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9540:Alg1
|
UTSW |
16 |
5,061,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9557:Alg1
|
UTSW |
16 |
5,057,820 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Alg1
|
UTSW |
16 |
5,057,831 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGGCTGTTACTCATGTCATC -3'
(R):5'- AGGATGGAGAAGTCCTCGTC -3'
Sequencing Primer
(F):5'- TGTCATCTCAGTGCTAGCAACCAG -3'
(R):5'- ATGGAGAAGTCCTCGTCCTCTACAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation