Incidental Mutation 'R1448:Man2c1'
ID |
159053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2c1
|
Ensembl Gene |
ENSMUSG00000032295 |
Gene Name |
mannosidase, alpha, class 2C, member 1 |
Synonyms |
1110025H24Rik |
MMRRC Submission |
039503-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1448 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57042503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 183
(D183E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000161663]
[ENSMUST00000160584]
[ENSMUST00000161182]
[ENSMUST00000161338]
[ENSMUST00000161393]
[ENSMUST00000162915]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
AA Change: D183E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295 AA Change: D183E
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 |
noncoding transcript
Transcript: ENSMUST00000125333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142077
|
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: D183E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295 AA Change: D183E
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: D183E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124124 Gene: ENSMUSG00000032295 AA Change: D183E
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
AA Change: D183E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123840 Gene: ENSMUSG00000032295 AA Change: D183E
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161182
AA Change: D183E
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295 AA Change: D183E
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: ENSMUST00000160122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159711
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161696
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162340
|
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: ENSMUST00000161338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162915
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5330417H12Rik |
T |
A |
7: 107,223,952 (GRCm39) |
|
probably benign |
Het |
A1cf |
A |
T |
19: 31,886,196 (GRCm39) |
N35I |
possibly damaging |
Het |
Abca2 |
T |
C |
2: 25,330,542 (GRCm39) |
I1106T |
possibly damaging |
Het |
Abca4 |
G |
A |
3: 121,956,577 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,581,632 (GRCm39) |
D4804G |
probably benign |
Het |
Adk |
T |
A |
14: 21,102,708 (GRCm39) |
M1K |
probably null |
Het |
Aff3 |
T |
C |
1: 38,230,364 (GRCm39) |
N1006D |
probably damaging |
Het |
Akap12 |
A |
G |
10: 4,305,475 (GRCm39) |
T762A |
probably benign |
Het |
Atosa |
C |
G |
9: 74,917,456 (GRCm39) |
S685* |
probably null |
Het |
Atp12a |
T |
A |
14: 56,623,296 (GRCm39) |
M843K |
probably damaging |
Het |
Bbx |
T |
A |
16: 50,086,633 (GRCm39) |
K169* |
probably null |
Het |
Bicra |
A |
T |
7: 15,722,284 (GRCm39) |
V411E |
possibly damaging |
Het |
Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
Cel |
T |
C |
2: 28,446,338 (GRCm39) |
Y511C |
probably damaging |
Het |
Celf4 |
G |
T |
18: 25,636,140 (GRCm39) |
|
probably null |
Het |
Clasp1 |
A |
G |
1: 118,436,646 (GRCm39) |
N310S |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,709,577 (GRCm39) |
K1873R |
unknown |
Het |
Cstf1 |
A |
G |
2: 172,217,795 (GRCm39) |
D136G |
probably damaging |
Het |
Cwc22 |
T |
A |
2: 77,741,899 (GRCm39) |
E470D |
probably damaging |
Het |
Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
Cytip |
A |
G |
2: 58,035,192 (GRCm39) |
I168T |
probably damaging |
Het |
D5Ertd579e |
A |
G |
5: 36,760,083 (GRCm39) |
L1359P |
probably benign |
Het |
Ddx25 |
A |
C |
9: 35,469,034 (GRCm39) |
V26G |
probably benign |
Het |
Dennd4a |
T |
A |
9: 64,813,327 (GRCm39) |
S1429T |
possibly damaging |
Het |
Dmd |
A |
G |
X: 83,892,306 (GRCm39) |
D2990G |
probably damaging |
Het |
Dop1a |
C |
A |
9: 86,424,785 (GRCm39) |
|
probably null |
Het |
Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
Fabp6 |
T |
A |
11: 43,486,992 (GRCm39) |
I112F |
probably benign |
Het |
Fbxw10 |
T |
C |
11: 62,738,418 (GRCm39) |
V104A |
possibly damaging |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,702,804 (GRCm39) |
Y894C |
probably damaging |
Het |
Hydin |
C |
T |
8: 111,173,217 (GRCm39) |
H967Y |
probably benign |
Het |
Ip6k3 |
T |
C |
17: 27,364,242 (GRCm39) |
K269E |
possibly damaging |
Het |
Jup |
T |
C |
11: 100,274,026 (GRCm39) |
K172E |
probably damaging |
Het |
Katnal1 |
T |
C |
5: 148,841,486 (GRCm39) |
D126G |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,898,788 (GRCm39) |
K163M |
probably damaging |
Het |
Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
Lct |
T |
A |
1: 128,235,559 (GRCm39) |
I483F |
probably damaging |
Het |
Loxl2 |
G |
A |
14: 69,930,489 (GRCm39) |
G751D |
probably damaging |
Het |
Ltbp4 |
G |
A |
7: 27,006,002 (GRCm39) |
R1559C |
possibly damaging |
Het |
Med17 |
T |
C |
9: 15,187,139 (GRCm39) |
|
probably null |
Het |
Mrgpra9 |
A |
C |
7: 46,885,561 (GRCm39) |
S34R |
probably benign |
Het |
Mrpl44 |
T |
A |
1: 79,755,677 (GRCm39) |
N94K |
probably damaging |
Het |
Nat8f1 |
A |
G |
6: 85,887,924 (GRCm39) |
V12A |
probably benign |
Het |
Nr2e3 |
C |
A |
9: 59,850,797 (GRCm39) |
G354V |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup155 |
T |
C |
15: 8,141,890 (GRCm39) |
V94A |
probably benign |
Het |
Or14a256 |
A |
T |
7: 86,265,569 (GRCm39) |
C95S |
probably damaging |
Het |
Or52h2 |
C |
T |
7: 103,839,082 (GRCm39) |
V111I |
possibly damaging |
Het |
Or5p76 |
T |
C |
7: 108,122,525 (GRCm39) |
I211V |
probably benign |
Het |
Or9q2 |
A |
T |
19: 13,772,140 (GRCm39) |
Y278* |
probably null |
Het |
Pcdhb10 |
A |
T |
18: 37,545,556 (GRCm39) |
I211F |
possibly damaging |
Het |
Phip |
A |
C |
9: 82,797,476 (GRCm39) |
I509S |
possibly damaging |
Het |
Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
Psme4 |
T |
G |
11: 30,802,744 (GRCm39) |
L1487R |
probably damaging |
Het |
Ptgdr2 |
A |
G |
19: 10,917,857 (GRCm39) |
S125G |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,418,114 (GRCm39) |
K126E |
probably damaging |
Het |
Rdh16f2 |
T |
A |
10: 127,712,794 (GRCm39) |
V264E |
probably benign |
Het |
Ric8b |
C |
T |
10: 84,783,535 (GRCm39) |
A131V |
possibly damaging |
Het |
Rock1 |
A |
T |
18: 10,070,233 (GRCm39) |
I1280N |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,725,888 (GRCm39) |
V59A |
possibly damaging |
Het |
Ruvbl1 |
T |
A |
6: 88,444,551 (GRCm39) |
C49S |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,514,189 (GRCm39) |
N291S |
probably benign |
Het |
Serbp1 |
T |
A |
6: 67,254,904 (GRCm39) |
H325Q |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Shisal2b |
T |
C |
13: 104,982,470 (GRCm39) |
I151V |
probably benign |
Het |
Slitrk3 |
G |
A |
3: 72,957,674 (GRCm39) |
T366I |
probably damaging |
Het |
Spryd3 |
A |
T |
15: 102,026,827 (GRCm39) |
H307Q |
possibly damaging |
Het |
Spx |
A |
T |
6: 142,364,239 (GRCm39) |
D100V |
probably benign |
Het |
Surf4 |
A |
G |
2: 26,814,476 (GRCm39) |
F142L |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,067,099 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,098,952 (GRCm39) |
M5278T |
possibly damaging |
Het |
Thap12 |
T |
C |
7: 98,365,230 (GRCm39) |
V466A |
probably benign |
Het |
Thap3 |
T |
C |
4: 152,067,673 (GRCm39) |
K135R |
possibly damaging |
Het |
Tmem131 |
G |
T |
1: 36,866,439 (GRCm39) |
D448E |
probably benign |
Het |
Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
Trim43a |
G |
T |
9: 88,464,146 (GRCm39) |
C19F |
probably damaging |
Het |
Trp63 |
C |
T |
16: 25,707,870 (GRCm39) |
P526L |
possibly damaging |
Het |
Ubqln3 |
T |
C |
7: 103,791,997 (GRCm39) |
D31G |
probably damaging |
Het |
Utp14b |
C |
A |
1: 78,643,162 (GRCm39) |
N353K |
probably damaging |
Het |
Vmn1r40 |
A |
G |
6: 89,691,558 (GRCm39) |
K125R |
probably damaging |
Het |
Vmn2r1 |
A |
G |
3: 64,008,734 (GRCm39) |
Y471C |
probably damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,001 (GRCm39) |
I232T |
probably damaging |
Het |
Zfp263 |
A |
C |
16: 3,564,323 (GRCm39) |
E204D |
probably benign |
Het |
Zfp865 |
A |
T |
7: 5,032,278 (GRCm39) |
K88* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTGAATGCCTGCTACTTGCAC -3'
(R):5'- TTTAAGGGCACCTGGCACCCTAAC -3'
Sequencing Primer
(F):5'- TGTCAAGCTCCCAGCATC -3'
(R):5'- CGAACAATGGTGCCTTACCTG -3'
|
Posted On |
2014-03-14 |