Incidental Mutation 'R7527:Man2c1'
ID |
583075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2c1
|
Ensembl Gene |
ENSMUSG00000032295 |
Gene Name |
mannosidase, alpha, class 2C, member 1 |
Synonyms |
1110025H24Rik |
MMRRC Submission |
045599-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7527 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 57045100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 429
(Y429*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000160584]
[ENSMUST00000161182]
[ENSMUST00000161338]
[ENSMUST00000161393]
[ENSMUST00000161663]
[ENSMUST00000162915]
[ENSMUST00000190245]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034836
AA Change: Y429*
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295 AA Change: Y429*
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 null
Transcript: ENSMUST00000160147
AA Change: Y429*
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295 AA Change: Y429*
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 null
Transcript: ENSMUST00000161182
AA Change: Y330*
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295 AA Change: Y330*
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 null
Transcript: ENSMUST00000161663
AA Change: Y470*
|
SMART Domains |
Protein: ENSMUSP00000124124 Gene: ENSMUSG00000032295 AA Change: Y470*
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: 99.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,218,556 (GRCm39) |
|
probably null |
Het |
Abcc10 |
A |
G |
17: 46,623,830 (GRCm39) |
S810P |
possibly damaging |
Het |
Adam22 |
T |
C |
5: 8,132,239 (GRCm39) |
H138R |
possibly damaging |
Het |
Adcyap1 |
T |
A |
17: 93,510,257 (GRCm39) |
L95* |
probably null |
Het |
Adgrl4 |
C |
A |
3: 151,144,887 (GRCm39) |
T12N |
probably benign |
Het |
Alpi |
T |
C |
1: 87,026,677 (GRCm39) |
N438S |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,687,483 (GRCm39) |
N979D |
probably benign |
Het |
Ankrd60 |
A |
C |
2: 173,419,966 (GRCm39) |
S57A |
probably benign |
Het |
Arfgef3 |
G |
A |
10: 18,522,377 (GRCm39) |
P550S |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,422,202 (GRCm39) |
D390V |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,248,208 (GRCm39) |
V374A |
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,014,172 (GRCm39) |
F201I |
probably benign |
Het |
Cdh15 |
A |
T |
8: 123,588,865 (GRCm39) |
D313V |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,669,890 (GRCm39) |
L231P |
possibly damaging |
Het |
Chl1 |
T |
G |
6: 103,688,162 (GRCm39) |
C1001G |
probably damaging |
Het |
Cmtr2 |
A |
G |
8: 110,948,770 (GRCm39) |
H360R |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,261,732 (GRCm39) |
A922T |
probably damaging |
Het |
Fancg |
C |
T |
4: 43,010,116 (GRCm39) |
|
probably benign |
Het |
Glt8d2 |
A |
T |
10: 82,488,403 (GRCm39) |
S356T |
unknown |
Het |
Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
Gm9195 |
C |
T |
14: 72,711,310 (GRCm39) |
C376Y |
possibly damaging |
Het |
Gnai3 |
G |
A |
3: 108,025,693 (GRCm39) |
R129C |
|
Het |
Golph3 |
T |
G |
15: 12,343,404 (GRCm39) |
|
probably null |
Het |
H2bc18 |
T |
A |
3: 96,177,186 (GRCm39) |
V40D |
possibly damaging |
Het |
Hk1 |
C |
A |
10: 62,140,561 (GRCm39) |
V105F |
probably damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,001 (GRCm39) |
Y37C |
probably damaging |
Het |
Inava |
T |
A |
1: 136,142,122 (GRCm39) |
D659V |
possibly damaging |
Het |
Jun |
G |
T |
4: 94,939,234 (GRCm39) |
P92Q |
probably damaging |
Het |
Klhl14 |
C |
T |
18: 21,784,597 (GRCm39) |
V277I |
probably damaging |
Het |
Lrrc51 |
C |
T |
7: 101,569,843 (GRCm39) |
|
probably null |
Het |
Myo18a |
T |
A |
11: 77,734,406 (GRCm39) |
C1476S |
probably benign |
Het |
Neb |
G |
C |
2: 52,066,635 (GRCm39) |
T6155R |
probably damaging |
Het |
Niban3 |
C |
G |
8: 72,059,342 (GRCm39) |
C568W |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,326,422 (GRCm39) |
E443G |
possibly damaging |
Het |
Or10j5 |
C |
T |
1: 172,784,511 (GRCm39) |
H50Y |
probably benign |
Het |
Or4c15 |
A |
G |
2: 88,760,434 (GRCm39) |
V75A |
probably benign |
Het |
Or5d37 |
A |
T |
2: 87,923,954 (GRCm39) |
C109S |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,408,685 (GRCm39) |
I214V |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,856,603 (GRCm39) |
S515P |
probably damaging |
Het |
Pik3r5 |
T |
C |
11: 68,367,177 (GRCm39) |
L84P |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,736,273 (GRCm39) |
I538T |
probably damaging |
Het |
Plxnb1 |
G |
T |
9: 108,929,929 (GRCm39) |
V262L |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,057,804 (GRCm39) |
S1320P |
unknown |
Het |
Pramel47 |
A |
G |
5: 95,490,409 (GRCm39) |
D347G |
probably benign |
Het |
Prap1 |
G |
A |
7: 139,676,120 (GRCm39) |
|
probably null |
Het |
Psg23 |
A |
T |
7: 18,348,699 (GRCm39) |
V36D |
probably damaging |
Het |
Ptgr1 |
A |
G |
4: 58,982,887 (GRCm39) |
Y49H |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,104 (GRCm39) |
T528A |
probably benign |
Het |
Rapgef6 |
T |
C |
11: 54,525,787 (GRCm39) |
S541P |
unknown |
Het |
Rnf17 |
A |
T |
14: 56,753,895 (GRCm39) |
D1534V |
probably damaging |
Het |
Sdk1 |
T |
G |
5: 141,778,731 (GRCm39) |
S236R |
possibly damaging |
Het |
Sepsecs |
A |
G |
5: 52,801,393 (GRCm39) |
M423T |
possibly damaging |
Het |
Serpina1f |
T |
G |
12: 103,658,167 (GRCm39) |
Y246S |
probably benign |
Het |
Sftpb |
T |
A |
6: 72,282,048 (GRCm39) |
V46E |
possibly damaging |
Het |
Slc4a1ap |
G |
A |
5: 31,691,475 (GRCm39) |
V424I |
probably benign |
Het |
Slc5a4b |
G |
A |
10: 75,946,742 (GRCm39) |
T10M |
probably benign |
Het |
Slc6a16 |
T |
C |
7: 44,922,063 (GRCm39) |
W664R |
probably damaging |
Het |
Snx8 |
T |
C |
5: 140,341,827 (GRCm39) |
E138G |
probably benign |
Het |
Sox6 |
T |
C |
7: 115,376,408 (GRCm39) |
E108G |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,870,209 (GRCm39) |
I120F |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,075,015 (GRCm39) |
E1452G |
possibly damaging |
Het |
Stac2 |
T |
A |
11: 97,930,452 (GRCm39) |
E372V |
probably damaging |
Het |
Taco1 |
A |
T |
11: 105,962,795 (GRCm39) |
I161F |
probably damaging |
Het |
Taf1d |
C |
A |
9: 15,220,133 (GRCm39) |
D127E |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 36,097,803 (GRCm39) |
N482Y |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,729,635 (GRCm39) |
V1457A |
possibly damaging |
Het |
Tmem200c |
A |
T |
17: 69,148,671 (GRCm39) |
H418L |
probably benign |
Het |
Tmem81 |
T |
C |
1: 132,435,884 (GRCm39) |
V230A |
probably benign |
Het |
Tnn |
C |
T |
1: 159,946,074 (GRCm39) |
V915I |
possibly damaging |
Het |
Trav8d-2 |
A |
T |
14: 53,280,154 (GRCm39) |
Y48F |
possibly damaging |
Het |
Trpm2 |
T |
C |
10: 77,801,894 (GRCm39) |
N57S |
probably benign |
Het |
Ttn |
G |
A |
2: 76,598,383 (GRCm39) |
T19510M |
probably damaging |
Het |
Ubl7 |
T |
C |
9: 57,820,167 (GRCm39) |
L73P |
unknown |
Het |
Uso1 |
A |
G |
5: 92,347,734 (GRCm39) |
D845G |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,277,126 (GRCm39) |
P3397Q |
possibly damaging |
Het |
Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
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 |
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 |
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'- AATCGGTCCAACATGGTCTGTG -3'
Sequencing Primer
(F):5'- CCAGAGTGTGGTAGGCCTG -3'
(R):5'- CCAACATGGTCTGTGTGGGG -3'
|
Posted On |
2019-10-17 |