Incidental Mutation 'R4361:Man1a2'
| ID |
324895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man1a2
|
| Ensembl Gene |
ENSMUSG00000008763 |
| Gene Name |
mannosidase, alpha, class 1A, member 2 |
| Synonyms |
Man1b |
| MMRRC Submission |
041112-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4361 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100469519-100592789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100563358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 96
(K96E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008907]
[ENSMUST00000130066]
[ENSMUST00000196250]
|
| AlphaFold |
P39098 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008907
AA Change: K179E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: K179E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
170 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
187 |
626 |
2.8e-156 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123442
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130066
AA Change: K96E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763
AA Change: K96E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
18 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
104 |
179 |
1.2e-23 |
PFAM |
|
Pfam:Glyco_hydro_47
|
174 |
246 |
1.1e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196250
|
| SMART Domains |
Protein: ENSMUSP00000143695
Gene: ENSMUSG00000008763
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,688 (GRCm39) |
T538A |
probably damaging |
Het |
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Aadac |
T |
A |
3: 59,947,182 (GRCm39) |
S293R |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,481,947 (GRCm39) |
|
probably benign |
Het |
| Ccdc157 |
C |
T |
11: 4,096,550 (GRCm39) |
A400T |
probably damaging |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,779 (GRCm39) |
V3A |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,865 (GRCm39) |
M232L |
possibly damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,478,646 (GRCm39) |
D264N |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,473,531 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,462,660 (GRCm39) |
S373I |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,558,290 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
T |
C |
4: 109,237,228 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,362,676 (GRCm39) |
Q235L |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,880,676 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
C |
T |
5: 71,790,888 (GRCm39) |
|
probably null |
Het |
| Gins1 |
A |
G |
2: 150,767,821 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gm12253 |
T |
A |
11: 58,325,687 (GRCm39) |
S53T |
probably benign |
Het |
| Gne |
C |
A |
4: 44,059,947 (GRCm39) |
A149S |
possibly damaging |
Het |
| Gpc2 |
A |
T |
5: 138,276,552 (GRCm39) |
C191* |
probably null |
Het |
| Has2 |
G |
T |
15: 56,545,344 (GRCm39) |
A86E |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,870,982 (GRCm39) |
S205T |
probably damaging |
Het |
| Irx5 |
G |
T |
8: 93,085,025 (GRCm39) |
A72S |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,768,044 (GRCm39) |
Q51L |
probably benign |
Het |
| Klk1b11 |
A |
G |
7: 43,645,378 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
G |
15: 98,761,551 (GRCm39) |
M600L |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,084,482 (GRCm39) |
S172R |
probably damaging |
Het |
| Lrrc37 |
CTTTT |
CTTTTT |
11: 103,508,327 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
G |
A |
11: 96,925,496 (GRCm39) |
|
probably benign |
Het |
| Mab21l2 |
C |
T |
3: 86,454,497 (GRCm39) |
V168M |
probably damaging |
Het |
| Magea3 |
A |
C |
X: 153,731,850 (GRCm39) |
C218G |
possibly damaging |
Het |
| Magea3 |
C |
A |
X: 153,731,849 (GRCm39) |
C218F |
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myf6 |
GGGGGCAG |
GG |
10: 107,330,293 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nav1 |
G |
A |
1: 135,535,175 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,688,847 (GRCm39) |
K477E |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,794,921 (GRCm39) |
H862L |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,495,037 (GRCm39) |
S1608* |
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,779 (GRCm39) |
I303V |
probably benign |
Het |
| Retreg3 |
T |
A |
11: 100,994,713 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
A |
5: 146,148,089 (GRCm39) |
V310F |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,923,064 (GRCm39) |
A169V |
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,073,729 (GRCm39) |
S264P |
probably benign |
Het |
| Tex26 |
A |
T |
5: 149,384,388 (GRCm39) |
Q102L |
probably benign |
Het |
| Tex38 |
A |
G |
4: 115,637,420 (GRCm39) |
S128P |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,311,626 (GRCm39) |
|
probably benign |
Het |
| Tyr |
G |
T |
7: 87,078,284 (GRCm39) |
H525Q |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,066,737 (GRCm39) |
N417S |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,764 (GRCm39) |
S331T |
probably damaging |
Het |
|
| Other mutations in Man1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01987:Man1a2
|
APN |
3 |
100,551,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Man1a2
|
APN |
3 |
100,591,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02097:Man1a2
|
APN |
3 |
100,489,447 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02395:Man1a2
|
APN |
3 |
100,551,853 (GRCm39) |
splice site |
probably null |
|
|
IGL02441:Man1a2
|
APN |
3 |
100,499,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0043:Man1a2
|
UTSW |
3 |
100,495,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Man1a2
|
UTSW |
3 |
100,499,199 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0217:Man1a2
|
UTSW |
3 |
100,524,353 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0266:Man1a2
|
UTSW |
3 |
100,489,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Man1a2
|
UTSW |
3 |
100,592,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0633:Man1a2
|
UTSW |
3 |
100,591,891 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1074:Man1a2
|
UTSW |
3 |
100,563,402 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2167:Man1a2
|
UTSW |
3 |
100,499,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Man1a2
|
UTSW |
3 |
100,539,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3822:Man1a2
|
UTSW |
3 |
100,539,913 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4652:Man1a2
|
UTSW |
3 |
100,539,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Man1a2
|
UTSW |
3 |
100,524,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Man1a2
|
UTSW |
3 |
100,563,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Man1a2
|
UTSW |
3 |
100,554,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5201:Man1a2
|
UTSW |
3 |
100,524,328 (GRCm39) |
missense |
probably benign |
|
|
R5251:Man1a2
|
UTSW |
3 |
100,527,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Man1a2
|
UTSW |
3 |
100,592,248 (GRCm39) |
start gained |
probably benign |
|
|
R6793:Man1a2
|
UTSW |
3 |
100,539,913 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6886:Man1a2
|
UTSW |
3 |
100,563,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Man1a2
|
UTSW |
3 |
100,554,395 (GRCm39) |
missense |
unknown |
|
|
R7224:Man1a2
|
UTSW |
3 |
100,489,369 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7308:Man1a2
|
UTSW |
3 |
100,527,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Man1a2
|
UTSW |
3 |
100,563,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7826:Man1a2
|
UTSW |
3 |
100,489,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Man1a2
|
UTSW |
3 |
100,592,001 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9621:Man1a2
|
UTSW |
3 |
100,591,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGAAGCCATCTAACCATC -3'
(R):5'- TGACCATGAGAAAGCCCTGG -3'
Sequencing Primer
(F):5'- TGGTGAAGCCATCTAACCATCTAAAC -3'
(R):5'- CCATGAGAAAGCCCTGGAAGAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation