Incidental Mutation 'IGL03176:Man2c1'
ID |
412002 |
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 # |
IGL03176
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57048030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 739
(N739D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000034842]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000161182]
[ENSMUST00000161663]
[ENSMUST00000160584]
[ENSMUST00000161338]
[ENSMUST00000162915]
[ENSMUST00000186410]
[ENSMUST00000190245]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
AA Change: N836D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295 AA Change: N836D
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 |
probably benign
Transcript: ENSMUST00000160147
AA Change: N838D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295 AA Change: N838D
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: N739D
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295 AA Change: N739D
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: ENSMUST00000160042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159711
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160280
|
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: 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: ENSMUST00000161338
|
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 |
noncoding transcript
Transcript: ENSMUST00000162634
|
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: 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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
Akr1a1 |
A |
G |
4: 116,496,272 (GRCm39) |
L213S |
probably damaging |
Het |
Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
Clec4g |
C |
T |
8: 3,768,441 (GRCm39) |
V97M |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
Eya3 |
A |
G |
4: 132,439,233 (GRCm39) |
E437G |
possibly damaging |
Het |
Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
Fcrl1 |
A |
T |
3: 87,298,564 (GRCm39) |
N353I |
probably damaging |
Het |
Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
Ptgr2 |
C |
T |
12: 84,354,668 (GRCm39) |
T283I |
probably damaging |
Het |
Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
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 |
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 |
2016-08-02 |