Incidental Mutation 'IGL03209:Man2c1'
| ID |
413237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Man2c1
|
| Ensembl Gene |
ENSMUSG00000032295 |
| Gene Name |
mannosidase, alpha, class 2C, member 1 |
| Synonyms |
1110025H24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03209
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57049114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 871
(T871A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000034842]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000161182]
[ENSMUST00000161663]
[ENSMUST00000186410]
[ENSMUST00000161338]
[ENSMUST00000190245]
[ENSMUST00000160584]
|
| AlphaFold |
Q91W89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
AA Change: T968A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: T968A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
251 |
510 |
4.3e-89 |
PFAM |
|
Alpha-mann_mid
|
516 |
593 |
1.37e-26 |
SMART |
|
low complexity region
|
603 |
613 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38C
|
619 |
1029 |
1.3e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034842
|
| SMART Domains |
Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298
| Domain | Start | End | E-Value | Type |
|---|
|
Fapy_DNA_glyco
|
2 |
124 |
2.9e-16 |
SMART |
|
H2TH
|
139 |
224 |
9.35e-2 |
SMART |
|
Pfam:Neil1-DNA_bind
|
252 |
290 |
2.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159101
|
| SMART Domains |
Protein: ENSMUSP00000124304
Gene: ENSMUSG00000032295
| Domain | Start | End | E-Value | Type |
|---|
|
Alpha-mann_mid
|
21 |
100 |
1.22e-32 |
SMART |
|
low complexity region
|
110 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160147
AA Change: T970A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: T970A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
251 |
510 |
2.8e-86 |
PFAM |
|
Alpha-mann_mid
|
516 |
595 |
1.22e-32 |
SMART |
|
low complexity region
|
605 |
615 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38C
|
621 |
1031 |
1.2e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161182
AA Change: T871A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: T871A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_38
|
175 |
411 |
9.4e-67 |
PFAM |
|
Alpha-mann_mid
|
417 |
496 |
1.22e-32 |
SMART |
|
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38C
|
522 |
932 |
1.1e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161875
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161663
|
| SMART Domains |
Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
302 |
551 |
1.8e-81 |
PFAM |
|
Alpha-mann_mid
|
557 |
636 |
1.22e-32 |
SMART |
|
low complexity region
|
646 |
656 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38C
|
662 |
866 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186410
|
| SMART Domains |
Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298
| Domain | Start | End | E-Value | Type |
|---|
|
Fapy_DNA_glyco
|
2 |
124 |
2.9e-16 |
SMART |
|
H2TH
|
139 |
224 |
9.35e-2 |
SMART |
|
Pfam:Neil1-DNA_bind
|
252 |
290 |
2.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161338
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190245
|
| SMART Domains |
Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298
| Domain | Start | End | E-Value | Type |
|---|
|
Fapy_DNA_glyco
|
2 |
124 |
2.9e-16 |
SMART |
|
H2TH
|
139 |
224 |
9.35e-2 |
SMART |
|
Pfam:Neil1-DNA_bind
|
252 |
290 |
2.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160426
|
| SMART Domains |
Protein: ENSMUSP00000124005
Gene: ENSMUSG00000032295
| Domain | Start | End | E-Value | Type |
|---|
|
Alpha-mann_mid
|
24 |
77 |
4.48e-1 |
SMART |
|
low complexity region
|
87 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160584
|
| SMART Domains |
Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Germ line null mutants display neuronal and glia degeneration, glycogen accumulation, and liver and kidney damage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,882,973 (GRCm39) |
A841V |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,576,955 (GRCm39) |
|
probably benign |
Het |
| Arc |
A |
T |
15: 74,543,833 (GRCm39) |
L130Q |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,175,951 (GRCm39) |
V383I |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,662,463 (GRCm39) |
S266G |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,914,905 (GRCm39) |
E101G |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,251 (GRCm39) |
K30R |
possibly damaging |
Het |
| Clns1a |
A |
G |
7: 97,360,937 (GRCm39) |
D103G |
probably null |
Het |
| Crispld2 |
C |
A |
8: 120,757,837 (GRCm39) |
A394E |
possibly damaging |
Het |
| Cyp51 |
A |
T |
5: 4,154,195 (GRCm39) |
L38H |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,725,773 (GRCm39) |
|
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,712,675 (GRCm39) |
R129G |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,439,294 (GRCm39) |
Q234R |
probably damaging |
Het |
| Gdpgp1 |
A |
G |
7: 79,888,847 (GRCm39) |
T293A |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,810,493 (GRCm39) |
|
probably null |
Het |
| Ier5l |
G |
T |
2: 30,363,067 (GRCm39) |
D319E |
possibly damaging |
Het |
| Iigp1c |
T |
A |
18: 60,379,143 (GRCm39) |
I226N |
probably damaging |
Het |
| Ikzf1 |
T |
C |
11: 11,650,226 (GRCm39) |
V3A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,017,168 (GRCm39) |
N180D |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,150 (GRCm39) |
S69P |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,022,565 (GRCm39) |
I734V |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,203,896 (GRCm39) |
C129S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,831 (GRCm39) |
F1232I |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,281,831 (GRCm38) |
Y362* |
probably null |
Het |
| Or2h2c |
A |
T |
17: 37,422,413 (GRCm39) |
S154T |
probably benign |
Het |
| Or5ak23 |
A |
T |
2: 85,244,723 (GRCm39) |
S167T |
probably benign |
Het |
| Patj |
A |
G |
4: 98,353,377 (GRCm39) |
D640G |
probably null |
Het |
| Plxnd1 |
A |
T |
6: 115,939,318 (GRCm39) |
M1502K |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,514,238 (GRCm39) |
V429A |
possibly damaging |
Het |
| Slc25a48 |
T |
C |
13: 56,618,272 (GRCm39) |
V303A |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,959,897 (GRCm39) |
D212G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,078,160 (GRCm39) |
|
probably benign |
Het |
| Tmem65 |
A |
G |
15: 58,656,751 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,002,740 (GRCm39) |
|
probably null |
Het |
| Trim36 |
T |
C |
18: 46,300,575 (GRCm39) |
T687A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,351 (GRCm39) |
D3471E |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,238 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,466,231 (GRCm39) |
I2155F |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
probably benign |
Het |
|
| Other mutations in Man2c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Man2c1
|
APN |
9 |
57,049,103 (GRCm39) |
missense |
probably benign |
|
|
IGL01408:Man2c1
|
APN |
9 |
57,048,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01618:Man2c1
|
APN |
9 |
57,048,840 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01750:Man2c1
|
APN |
9 |
57,048,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01796:Man2c1
|
APN |
9 |
57,045,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02661:Man2c1
|
APN |
9 |
57,044,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Man2c1
|
APN |
9 |
57,046,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03176:Man2c1
|
APN |
9 |
57,048,030 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0014:Man2c1
|
UTSW |
9 |
57,046,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0329:Man2c1
|
UTSW |
9 |
57,048,467 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0432:Man2c1
|
UTSW |
9 |
57,042,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Man2c1
|
UTSW |
9 |
57,042,503 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1616:Man2c1
|
UTSW |
9 |
57,042,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1838:Man2c1
|
UTSW |
9 |
57,044,621 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2511:Man2c1
|
UTSW |
9 |
57,048,672 (GRCm39) |
splice site |
probably null |
|
|
R3751:Man2c1
|
UTSW |
9 |
57,048,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Man2c1
|
UTSW |
9 |
57,047,661 (GRCm39) |
unclassified |
probably benign |
|
|
R3772:Man2c1
|
UTSW |
9 |
57,047,661 (GRCm39) |
unclassified |
probably benign |
|
|
R4110:Man2c1
|
UTSW |
9 |
57,044,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4116:Man2c1
|
UTSW |
9 |
57,047,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4167:Man2c1
|
UTSW |
9 |
57,045,310 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4169:Man2c1
|
UTSW |
9 |
57,045,310 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4170:Man2c1
|
UTSW |
9 |
57,045,310 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4405:Man2c1
|
UTSW |
9 |
57,046,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4551:Man2c1
|
UTSW |
9 |
57,038,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Man2c1
|
UTSW |
9 |
57,049,439 (GRCm39) |
splice site |
probably null |
|
|
R4798:Man2c1
|
UTSW |
9 |
57,048,469 (GRCm39) |
nonsense |
probably null |
|
|
R4903:Man2c1
|
UTSW |
9 |
57,046,240 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5030:Man2c1
|
UTSW |
9 |
57,047,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5079:Man2c1
|
UTSW |
9 |
57,044,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Man2c1
|
UTSW |
9 |
57,038,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6430:Man2c1
|
UTSW |
9 |
57,038,517 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6695:Man2c1
|
UTSW |
9 |
57,048,875 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6743:Man2c1
|
UTSW |
9 |
57,042,849 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7011:Man2c1
|
UTSW |
9 |
57,045,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Man2c1
|
UTSW |
9 |
57,048,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7513:Man2c1
|
UTSW |
9 |
57,046,683 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7527:Man2c1
|
UTSW |
9 |
57,045,100 (GRCm39) |
nonsense |
probably null |
|
|
R7540:Man2c1
|
UTSW |
9 |
57,047,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Man2c1
|
UTSW |
9 |
57,046,647 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7868:Man2c1
|
UTSW |
9 |
57,045,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8261:Man2c1
|
UTSW |
9 |
57,046,942 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8397:Man2c1
|
UTSW |
9 |
57,042,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8429:Man2c1
|
UTSW |
9 |
57,038,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Man2c1
|
UTSW |
9 |
57,044,061 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8530:Man2c1
|
UTSW |
9 |
57,038,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Man2c1
|
UTSW |
9 |
57,038,325 (GRCm39) |
splice site |
probably null |
|
|
R8925:Man2c1
|
UTSW |
9 |
57,048,456 (GRCm39) |
nonsense |
probably null |
|
|
R8927:Man2c1
|
UTSW |
9 |
57,048,456 (GRCm39) |
nonsense |
probably null |
|
|
R8960:Man2c1
|
UTSW |
9 |
57,045,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Man2c1
|
UTSW |
9 |
57,044,317 (GRCm39) |
nonsense |
probably null |
|
|
R9326:Man2c1
|
UTSW |
9 |
57,042,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Man2c1
|
UTSW |
9 |
57,044,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation