Incidental Mutation 'IGL01796:Man2c1'
| ID |
155347 |
| 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 # |
IGL01796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57045244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 451
(T451I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000161663]
[ENSMUST00000161182]
[ENSMUST00000161393]
[ENSMUST00000160584]
[ENSMUST00000161338]
[ENSMUST00000190245]
[ENSMUST00000162915]
|
| AlphaFold |
Q91W89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
AA Change: T451I
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: T451I
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000159843
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160147
AA Change: T451I
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: T451I
| 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: ENSMUST00000161663
AA Change: T492I
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295
AA Change: T492I
| 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: ENSMUST00000161182
AA Change: T352I
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: T352I
| 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: ENSMUST00000161875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161393
|
| 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 |
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: ENSMUST00000162915
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,273 (GRCm39) |
Y511H |
probably damaging |
Het |
| Abca7 |
T |
G |
10: 79,849,743 (GRCm39) |
Y1948D |
probably damaging |
Het |
| Adgrl2 |
C |
A |
3: 148,564,611 (GRCm39) |
G319V |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,715,461 (GRCm39) |
D909V |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,886 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cbr1 |
A |
C |
16: 93,405,119 (GRCm39) |
N89T |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,146,916 (GRCm39) |
Q2778L |
probably benign |
Het |
| Clca4c-ps |
A |
G |
3: 144,595,340 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
T |
C |
2: 148,677,269 (GRCm39) |
F47L |
probably damaging |
Het |
| Dqx1 |
T |
C |
6: 83,043,408 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,692,794 (GRCm39) |
S150G |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,907,728 (GRCm39) |
K142* |
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,276,785 (GRCm39) |
H169Q |
probably benign |
Het |
| Fmo9 |
C |
T |
1: 166,490,904 (GRCm39) |
A525T |
probably benign |
Het |
| Gm42878 |
T |
C |
5: 121,683,247 (GRCm39) |
D6G |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,056 (GRCm39) |
Y49C |
probably damaging |
Het |
| Il22b |
T |
C |
10: 118,126,069 (GRCm39) |
N176S |
possibly damaging |
Het |
| Ipo7 |
T |
C |
7: 109,629,055 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,121,657 (GRCm39) |
E784G |
probably damaging |
Het |
| Jcad |
G |
T |
18: 4,672,855 (GRCm39) |
E206* |
probably null |
Het |
| Kif24 |
A |
T |
4: 41,392,978 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,809,886 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,534,240 (GRCm39) |
|
probably benign |
Het |
| Manba |
T |
A |
3: 135,248,150 (GRCm39) |
N346K |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,825,964 (GRCm39) |
|
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,094,273 (GRCm39) |
V744A |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,985,192 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nos1 |
A |
T |
5: 118,076,339 (GRCm39) |
K1120* |
probably null |
Het |
| Or11g25 |
C |
A |
14: 50,722,998 (GRCm39) |
Q28K |
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,147 (GRCm39) |
R172H |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,976,750 (GRCm39) |
C391S |
possibly damaging |
Het |
| Scn1a |
G |
A |
2: 66,162,645 (GRCm39) |
|
probably benign |
Het |
| Sgce |
T |
G |
6: 4,711,326 (GRCm39) |
N149H |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,728,426 (GRCm39) |
W126R |
probably damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,147,404 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
A |
3: 83,845,362 (GRCm39) |
K423* |
probably null |
Het |
| Tnrc18 |
C |
T |
5: 142,750,642 (GRCm39) |
E1444K |
possibly damaging |
Het |
| Tpp1 |
T |
C |
7: 105,396,857 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,705,999 (GRCm39) |
S610R |
probably benign |
Het |
| Ushbp1 |
G |
T |
8: 71,840,076 (GRCm39) |
A525E |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,314 (GRCm39) |
M695K |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,915,585 (GRCm39) |
I455T |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,370,621 (GRCm39) |
F686S |
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 |
|
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation