Incidental Mutation 'R6430:Man2c1'
ID |
518489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2c1
|
Ensembl Gene |
ENSMUSG00000032295 |
Gene Name |
mannosidase, alpha, class 2C, member 1 |
Synonyms |
1110025H24Rik |
MMRRC Submission |
044568-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6430 (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 C
at 57038517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000049169]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000160584]
[ENSMUST00000161182]
[ENSMUST00000161393]
[ENSMUST00000161663]
[ENSMUST00000162915]
[ENSMUST00000168177]
[ENSMUST00000168502]
[ENSMUST00000168678]
[ENSMUST00000161338]
[ENSMUST00000167715]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
AA Change: V59A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295 AA Change: V59A
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: ENSMUST00000049169
|
SMART Domains |
Protein: ENSMUSP00000045044 Gene: ENSMUSG00000042557
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142077
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159130
AA Change: V59A
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160122
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160147
AA Change: V59A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295 AA Change: V59A
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: ENSMUST00000160584
AA Change: V59A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123840 Gene: ENSMUSG00000032295 AA Change: V59A
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161182
AA Change: V59A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295 AA Change: V59A
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 |
possibly damaging
Transcript: ENSMUST00000161393
AA Change: V59A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161663
AA Change: V59A
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124124 Gene: ENSMUSG00000032295 AA Change: V59A
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 |
possibly damaging
Transcript: ENSMUST00000162915
AA Change: V59A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168177
|
SMART Domains |
Protein: ENSMUSP00000130221 Gene: ENSMUSG00000042557
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
142 |
186 |
5.3e-22 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
323 |
380 |
9.6e-22 |
PFAM |
Pfam:PAH
|
479 |
523 |
8.1e-11 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
Pfam:Sin3a_C
|
887 |
1190 |
1.2e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168502
|
SMART Domains |
Protein: ENSMUSP00000128956 Gene: ENSMUSG00000042557
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1138 |
1154 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161696
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168678
|
SMART Domains |
Protein: ENSMUSP00000126601 Gene: ENSMUSG00000042557
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167715
|
SMART Domains |
Protein: ENSMUSP00000130641 Gene: ENSMUSG00000042557
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
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 |
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'- TTAGCCAAGGGAGAGCGTTTC -3'
(R):5'- GTGCAGCATCAGAGAAATGGTC -3'
Sequencing Primer
(F):5'- AAGGGAGAGCGTTTCCCCAG -3'
(R):5'- GCAGCAGGGATGAAAATACTC -3'
|
Posted On |
2018-05-24 |