Incidental Mutation 'R4618:Man2c1'
ID |
345105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2c1
|
Ensembl Gene |
ENSMUSG00000032295 |
Gene Name |
mannosidase, alpha, class 2C, member 1 |
Synonyms |
1110025H24Rik |
MMRRC Submission |
041884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4618 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
Type of Mutation |
splice site (645 bp from exon) |
DNA Base Change (assembly) |
T to C
at 57049439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000034842]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000190245]
[ENSMUST00000160584]
[ENSMUST00000186410]
[ENSMUST00000161182]
[ENSMUST00000161663]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000160280
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161875
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160147
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295
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 null
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: ENSMUST00000160584
|
SMART Domains |
Protein: ENSMUSP00000123840 Gene: ENSMUSG00000032295
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
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: ENSMUST00000161182
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295
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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (89/91) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
T |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
Adamtsl3 |
T |
A |
7: 82,255,728 (GRCm39) |
M1580K |
probably benign |
Het |
Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
Akap3 |
G |
T |
6: 126,843,406 (GRCm39) |
C675F |
probably benign |
Het |
Asap1 |
A |
T |
15: 64,024,744 (GRCm39) |
H318Q |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,542,104 (GRCm39) |
A18S |
probably damaging |
Het |
Bcl2a1a |
A |
C |
9: 88,839,357 (GRCm39) |
N85T |
probably damaging |
Het |
Btnl6 |
G |
A |
17: 34,733,120 (GRCm39) |
P248S |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc14 |
T |
A |
16: 34,526,865 (GRCm39) |
C257S |
probably benign |
Het |
Cd5l |
A |
G |
3: 87,275,926 (GRCm39) |
T299A |
probably benign |
Het |
Cstdc3 |
T |
A |
16: 36,132,952 (GRCm39) |
D76E |
possibly damaging |
Het |
Endou |
C |
T |
15: 97,611,763 (GRCm39) |
V292M |
possibly damaging |
Het |
Fbxo36 |
T |
C |
1: 84,877,749 (GRCm39) |
I137T |
probably damaging |
Het |
Fcer1a |
T |
C |
1: 173,050,208 (GRCm39) |
I161V |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,103 (GRCm39) |
Y4612C |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,111,670 (GRCm39) |
L353* |
probably null |
Het |
Ghrhr |
T |
C |
6: 55,358,739 (GRCm39) |
F172S |
probably damaging |
Het |
Gins1 |
T |
A |
2: 150,759,781 (GRCm39) |
|
probably null |
Het |
Gm16519 |
T |
G |
17: 71,236,237 (GRCm39) |
L62R |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,498,965 (GRCm39) |
T283A |
probably benign |
Het |
Grin2c |
T |
A |
11: 115,143,573 (GRCm39) |
D729V |
probably damaging |
Het |
Heatr4 |
T |
G |
12: 84,024,841 (GRCm39) |
T327P |
probably damaging |
Het |
Hes2 |
A |
C |
4: 152,244,845 (GRCm39) |
S105R |
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,788 (GRCm39) |
D851E |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,472 (GRCm39) |
T785A |
probably benign |
Het |
Lmbr1 |
G |
T |
5: 29,551,863 (GRCm39) |
A74E |
probably damaging |
Het |
Lonp1 |
A |
C |
17: 56,929,511 (GRCm39) |
H175Q |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,531,371 (GRCm39) |
F195S |
probably damaging |
Het |
Man2b2 |
G |
T |
5: 36,974,983 (GRCm39) |
T436K |
probably benign |
Het |
Mrps15 |
G |
A |
4: 125,940,837 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
C |
A |
10: 5,767,586 (GRCm39) |
V177F |
probably benign |
Het |
Naxd |
A |
T |
8: 11,559,489 (GRCm39) |
I213F |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,267,890 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,047 (GRCm39) |
I318V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,858,078 (GRCm39) |
I1297N |
probably damaging |
Het |
Nol10 |
T |
C |
12: 17,398,562 (GRCm39) |
V3A |
probably damaging |
Het |
Nop14 |
G |
T |
5: 34,796,562 (GRCm39) |
P765Q |
probably damaging |
Het |
Noxa1 |
C |
T |
2: 24,981,761 (GRCm39) |
G114D |
probably damaging |
Het |
Ntmt2 |
A |
T |
1: 163,552,597 (GRCm39) |
F10I |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,405,857 (GRCm39) |
W141R |
probably damaging |
Het |
Or10a2 |
G |
A |
7: 106,673,761 (GRCm39) |
C242Y |
probably damaging |
Het |
Or13p4 |
A |
T |
4: 118,546,667 (GRCm39) |
|
probably benign |
Het |
Or5d18 |
A |
G |
2: 87,864,898 (GRCm39) |
V195A |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,618 (GRCm39) |
I174T |
possibly damaging |
Het |
Pde4d |
A |
T |
13: 110,070,411 (GRCm39) |
M7L |
probably benign |
Het |
Phykpl |
G |
A |
11: 51,483,056 (GRCm39) |
A188T |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,403,078 (GRCm39) |
V2260D |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,395,765 (GRCm39) |
E1136G |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,420 (GRCm39) |
L353Q |
probably damaging |
Het |
Rfx4 |
G |
T |
10: 84,716,760 (GRCm39) |
A425S |
probably benign |
Het |
Rnf38 |
A |
G |
4: 44,142,450 (GRCm39) |
S169P |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,376,347 (GRCm39) |
V305F |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,523,883 (GRCm39) |
K164E |
probably benign |
Het |
Sirt6 |
A |
G |
10: 81,462,408 (GRCm39) |
L37P |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,361,962 (GRCm39) |
T141A |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,227,946 (GRCm39) |
T1563S |
probably benign |
Het |
Tbc1d14 |
A |
C |
5: 36,687,725 (GRCm39) |
|
probably benign |
Het |
Tbrg4 |
G |
A |
11: 6,570,185 (GRCm39) |
|
probably benign |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,400,913 (GRCm39) |
L38Q |
probably benign |
Het |
Trhr |
A |
G |
15: 44,061,037 (GRCm39) |
N186D |
probably benign |
Het |
Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
Tsen54 |
T |
A |
11: 115,706,247 (GRCm39) |
|
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,542,257 (GRCm39) |
I138T |
possibly damaging |
Het |
Usp22 |
A |
G |
11: 61,052,269 (GRCm39) |
S237P |
probably damaging |
Het |
Vmn1r209 |
A |
G |
13: 22,990,619 (GRCm39) |
S24P |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,424 (GRCm39) |
H233Q |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,436 (GRCm39) |
I284N |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,644,296 (GRCm39) |
I705V |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zdhhc11 |
T |
A |
13: 74,127,349 (GRCm39) |
M242K |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
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 |
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'- ACACGTCGTTGCCTGTTCAG -3'
(R):5'- TCTGAGATGGAAGCCAGACC -3'
Sequencing Primer
(F):5'- TAGAGGTGGGAGTCCTGCC -3'
(R):5'- TGGAAGCCAGACCCTGCAC -3'
|
Posted On |
2015-09-25 |