Incidental Mutation 'R4110:Man2c1'
| ID |
317258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2c1
|
| Ensembl Gene |
ENSMUSG00000032295 |
| Gene Name |
mannosidase, alpha, class 2C, member 1 |
| Synonyms |
1110025H24Rik |
| MMRRC Submission |
040988-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57044055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 330
(N330S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000161663]
[ENSMUST00000161338]
[ENSMUST00000161182]
[ENSMUST00000161393]
[ENSMUST00000160584]
[ENSMUST00000162915]
|
| AlphaFold |
Q91W89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034836
AA Change: N289S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: N289S
| 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 |
noncoding transcript
Transcript: ENSMUST00000159402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160147
AA Change: N289S
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: N289S
| 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 damaging
Transcript: ENSMUST00000161663
AA Change: N330S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295
AA Change: N330S
| 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 |
noncoding transcript
Transcript: ENSMUST00000162634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161338
|
| 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: 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: ENSMUST00000161393
|
| 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 benign
Transcript: ENSMUST00000162915
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,713,115 (GRCm39) |
S2P |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,812,158 (GRCm39) |
V337A |
probably damaging |
Het |
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| BC023105 |
A |
G |
18: 60,575,356 (GRCm39) |
|
noncoding transcript |
Het |
| Blvra |
T |
C |
2: 126,937,075 (GRCm39) |
V176A |
probably damaging |
Het |
| Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,442,003 (GRCm39) |
|
probably null |
Het |
| Cse1l |
T |
C |
2: 166,783,970 (GRCm39) |
Y488H |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,643,366 (GRCm39) |
A1262T |
probably benign |
Het |
| Dtwd2 |
A |
C |
18: 49,831,373 (GRCm39) |
|
probably benign |
Het |
| Fadd |
C |
A |
7: 144,134,488 (GRCm39) |
K132N |
possibly damaging |
Het |
| Fndc3c1 |
T |
C |
X: 105,487,897 (GRCm39) |
N462S |
probably benign |
Het |
| Fzd3 |
A |
G |
14: 65,472,616 (GRCm39) |
V384A |
probably benign |
Het |
| Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
| Gsdmc |
T |
A |
15: 63,651,876 (GRCm39) |
H245L |
probably benign |
Het |
| H13 |
T |
C |
2: 152,523,029 (GRCm39) |
I114T |
probably damaging |
Het |
| Hhipl2 |
A |
G |
1: 183,204,920 (GRCm39) |
R78G |
probably benign |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Ldc1 |
A |
T |
4: 130,112,967 (GRCm39) |
L143Q |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
| Myh14 |
T |
G |
7: 44,277,974 (GRCm39) |
M1092L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,038,778 (GRCm39) |
I2899T |
probably benign |
Het |
| Neb |
T |
A |
2: 52,134,137 (GRCm39) |
Q3282L |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,163,620 (GRCm39) |
Q93L |
probably benign |
Het |
| Or13a18 |
T |
A |
7: 140,190,178 (GRCm39) |
L33Q |
possibly damaging |
Het |
| Or13a18 |
C |
A |
7: 140,190,177 (GRCm39) |
L33M |
probably benign |
Het |
| Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
| Or51i2 |
T |
C |
7: 103,689,609 (GRCm39) |
V202A |
probably damaging |
Het |
| Pcsk1 |
A |
G |
13: 75,244,488 (GRCm39) |
N122S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,745 (GRCm39) |
I966V |
probably benign |
Het |
| Phldb1 |
G |
A |
9: 44,627,128 (GRCm39) |
T439I |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,481,540 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
A |
T |
8: 84,417,828 (GRCm39) |
D120E |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,348 (GRCm39) |
Y301H |
probably damaging |
Het |
| Raly |
C |
T |
2: 154,699,378 (GRCm39) |
Q61* |
probably null |
Het |
| Rpl24 |
T |
C |
16: 55,791,723 (GRCm39) |
V148A |
probably benign |
Het |
| S100a16 |
A |
G |
3: 90,449,379 (GRCm39) |
N18S |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
| Slc22a12 |
C |
A |
19: 6,590,658 (GRCm39) |
R203L |
probably damaging |
Het |
| Ssbp3 |
C |
A |
4: 106,904,393 (GRCm39) |
|
probably benign |
Het |
| Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
| Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,933,188 (GRCm39) |
V692A |
probably damaging |
Het |
| Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
| Topbp1 |
G |
T |
9: 103,187,158 (GRCm39) |
R121L |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,047,924 (GRCm39) |
|
probably null |
Het |
| Zbtb3 |
G |
C |
19: 8,780,384 (GRCm39) |
|
probably benign |
Het |
| Zfp715 |
T |
A |
7: 42,947,304 (GRCm39) |
K885N |
possibly damaging |
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 |
|
|
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'- ACATAGGTCTGCAGGGTAGAC -3'
(R):5'- CCCATTCAAGTTGTTGTGCCTG -3'
Sequencing Primer
(F):5'- TGACCCACTGGAGCCTTAG -3'
(R):5'- GCCTGTGGGGAACATGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation