Incidental Mutation 'R7011:Man2c1'
ID |
545024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2c1
|
Ensembl Gene |
ENSMUSG00000032295 |
Gene Name |
mannosidase, alpha, class 2C, member 1 |
Synonyms |
1110025H24Rik |
MMRRC Submission |
045112-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7011 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57045117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 336
(V336E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000160584]
[ENSMUST00000161182]
[ENSMUST00000161338]
[ENSMUST00000161393]
[ENSMUST00000161663]
[ENSMUST00000162915]
[ENSMUST00000190245]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034836
AA Change: V435E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295 AA Change: V435E
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 |
probably damaging
Transcript: ENSMUST00000160147
AA Change: V435E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295 AA Change: V435E
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: 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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161182
AA Change: V336E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295 AA Change: V336E
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 |
probably benign
Transcript: ENSMUST00000161338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161393
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161663
AA Change: V476E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124124 Gene: ENSMUSG00000032295 AA Change: V476E
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: ENSMUST00000162915
|
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (66/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
T |
11: 46,033,845 (GRCm39) |
P886S |
probably benign |
Het |
Anapc1 |
C |
T |
2: 128,490,601 (GRCm39) |
|
probably null |
Het |
Ankrd34c |
C |
A |
9: 89,611,001 (GRCm39) |
G447* |
probably null |
Het |
Apbb1ip |
A |
T |
2: 22,725,943 (GRCm39) |
E238D |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,613,935 (GRCm39) |
L110P |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,853,689 (GRCm39) |
T1901I |
possibly damaging |
Het |
Brpf1 |
C |
A |
6: 113,295,427 (GRCm39) |
Q679K |
probably benign |
Het |
Btnl2 |
A |
G |
17: 34,582,487 (GRCm39) |
E351G |
probably damaging |
Het |
Cd209f |
T |
A |
8: 4,154,859 (GRCm39) |
T80S |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,819,451 (GRCm39) |
E349G |
probably damaging |
Het |
Cfap53 |
A |
T |
18: 74,462,564 (GRCm39) |
D436V |
probably benign |
Het |
Crhr2 |
A |
T |
6: 55,076,195 (GRCm39) |
|
probably null |
Het |
Cux1 |
T |
C |
5: 136,388,887 (GRCm39) |
K226E |
probably damaging |
Het |
Ddr2 |
A |
T |
1: 169,809,672 (GRCm39) |
D768E |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,632,346 (GRCm39) |
L435P |
probably damaging |
Het |
Dnah11 |
AGGCC |
AGGCCGGCC |
12: 117,885,753 (GRCm39) |
|
probably null |
Het |
Eif4ebp1 |
G |
A |
8: 27,763,372 (GRCm39) |
R55Q |
probably damaging |
Het |
Fbh1 |
T |
A |
2: 11,767,774 (GRCm39) |
D358V |
probably damaging |
Het |
Fra10ac1 |
T |
A |
19: 38,177,242 (GRCm39) |
E304D |
probably benign |
Het |
Gabrb2 |
T |
C |
11: 42,517,488 (GRCm39) |
S399P |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gprin2 |
G |
T |
14: 33,917,393 (GRCm39) |
H126N |
probably null |
Het |
Gucy1a1 |
A |
G |
3: 82,016,422 (GRCm39) |
S189P |
probably damaging |
Het |
Htr1d |
T |
C |
4: 136,170,317 (GRCm39) |
M182T |
probably benign |
Het |
Lipc |
A |
G |
9: 70,726,236 (GRCm39) |
F73L |
probably benign |
Het |
Liph |
A |
G |
16: 21,802,847 (GRCm39) |
I74T |
probably damaging |
Het |
Lrif1 |
T |
G |
3: 106,639,601 (GRCm39) |
Y229D |
probably damaging |
Het |
Magel2 |
C |
T |
7: 62,028,281 (GRCm39) |
T395I |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 104,013,070 (GRCm39) |
N139S |
probably damaging |
Het |
Mapk12 |
A |
T |
15: 89,019,803 (GRCm39) |
Y135N |
probably damaging |
Het |
Mapkapk3 |
C |
T |
9: 107,166,595 (GRCm39) |
|
probably benign |
Het |
Mast1 |
A |
T |
8: 85,638,574 (GRCm39) |
Y653* |
probably null |
Het |
Muc16 |
T |
A |
9: 18,548,747 (GRCm39) |
I5849F |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,839 (GRCm39) |
H5818L |
probably benign |
Het |
Ndufa10 |
A |
G |
1: 92,398,581 (GRCm39) |
S68P |
probably damaging |
Het |
Nedd1 |
C |
A |
10: 92,526,635 (GRCm39) |
L503F |
probably benign |
Het |
Nr1i3 |
A |
G |
1: 171,041,927 (GRCm39) |
M4V |
probably benign |
Het |
Or12e9 |
G |
A |
2: 87,202,604 (GRCm39) |
A243T |
possibly damaging |
Het |
Or2av9 |
T |
A |
11: 58,380,970 (GRCm39) |
I204F |
possibly damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,031 (GRCm39) |
F257I |
probably benign |
Het |
Or9i2 |
T |
C |
19: 13,816,403 (GRCm39) |
I45V |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,709,231 (GRCm39) |
S695T |
probably benign |
Het |
Pcdha1 |
T |
C |
18: 37,063,588 (GRCm39) |
I84T |
probably damaging |
Het |
Plek |
T |
A |
11: 16,944,760 (GRCm39) |
D90V |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,649,825 (GRCm39) |
C47R |
probably damaging |
Het |
Psg27 |
G |
C |
7: 18,290,798 (GRCm39) |
N468K |
probably benign |
Het |
Ptchd4 |
G |
A |
17: 42,814,759 (GRCm39) |
E887K |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,430,492 (GRCm39) |
L678F |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,968,904 (GRCm39) |
Y429C |
probably damaging |
Het |
Ros1 |
A |
T |
10: 52,056,272 (GRCm39) |
C73S |
probably damaging |
Het |
Rtkn2 |
G |
A |
10: 67,815,495 (GRCm39) |
|
probably benign |
Het |
Slc25a42 |
A |
G |
8: 70,639,352 (GRCm39) |
S242P |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,648,753 (GRCm39) |
D167V |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,724,610 (GRCm39) |
L511P |
probably benign |
Het |
Stbd1 |
A |
T |
5: 92,752,977 (GRCm39) |
K156* |
probably null |
Het |
Tenm4 |
G |
T |
7: 96,545,342 (GRCm39) |
G2453* |
probably null |
Het |
Tent4a |
C |
T |
13: 69,648,199 (GRCm39) |
G489S |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,309,523 (GRCm39) |
K1760E |
probably damaging |
Het |
Triobp |
T |
A |
15: 78,862,923 (GRCm39) |
L1427Q |
probably damaging |
Het |
Uaca |
A |
G |
9: 60,777,650 (GRCm39) |
E679G |
probably damaging |
Het |
Ucn3 |
T |
G |
13: 3,991,421 (GRCm39) |
H77P |
possibly damaging |
Het |
Wnk2 |
T |
A |
13: 49,224,567 (GRCm39) |
D998V |
probably damaging |
Het |
Xrcc3 |
A |
G |
12: 111,770,969 (GRCm39) |
V320A |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,345,925 (GRCm39) |
T1435A |
possibly damaging |
Het |
Zfp36l2 |
G |
T |
17: 84,493,861 (GRCm39) |
H259N |
possibly damaging |
Het |
Zfp619 |
A |
T |
7: 39,187,186 (GRCm39) |
H1072L |
probably damaging |
Het |
Zfy2 |
T |
A |
Y: 2,107,127 (GRCm39) |
E502D |
possibly damaging |
Het |
Zfyve16 |
G |
A |
13: 92,658,495 (GRCm39) |
P472L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCAACCCTTTCCAGAGTGTG -3'
(R):5'- AATCGGTCCAACATGGTCTG -3'
Sequencing Primer
(F):5'- CCAGAGTGTGGTAGGCCTG -3'
(R):5'- CCAACATGGTCTGTGTGGG -3'
|
Posted On |
2019-05-13 |