Incidental Mutation 'IGL01408:Man2c1'
| ID |
79871 |
| 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 # |
IGL01408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57048884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 924
(Y924C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000034842]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000161182]
[ENSMUST00000161338]
[ENSMUST00000161663]
[ENSMUST00000162915]
[ENSMUST00000186410]
[ENSMUST00000160584]
[ENSMUST00000190245]
|
| AlphaFold |
Q91W89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034836
AA Change: Y922C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: Y922C
| 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 damaging
Transcript: ENSMUST00000160147
AA Change: Y924C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: Y924C
| 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 damaging
Transcript: ENSMUST00000161182
AA Change: Y825C
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: Y825C
| 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: ENSMUST00000161875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161338
|
| 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: 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: ENSMUST00000162915
|
| 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: ENSMUST00000160584
|
| SMART Domains |
Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
| 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
| Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
| Bmp2k |
C |
T |
5: 97,234,823 (GRCm39) |
Q749* |
probably null |
Het |
| Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
| Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,802 (GRCm39) |
I397V |
possibly damaging |
Het |
| Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,656,702 (GRCm39) |
V455A |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,546,702 (GRCm39) |
N907S |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
| Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
| Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
| Kdm4b |
T |
C |
17: 56,660,518 (GRCm39) |
|
probably benign |
Het |
| Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
| Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
| Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
| Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
| Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
| Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
| Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
| Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
probably damaging |
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 |
|
|
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 |
|
IGL03209:Man2c1
|
APN |
9 |
57,049,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-11-05 |
Incidental Mutation