Incidental Mutation 'IGL03088:Man2a2'
| ID |
418234 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Man2a2
|
| Ensembl Gene |
ENSMUSG00000038886 |
| Gene Name |
mannosidase 2, alpha 2 |
| Synonyms |
MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
IGL03088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80009082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 844
(V844M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098346
AA Change: V844M
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: V844M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
44 |
75 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
167 |
497 |
1.9e-109 |
PFAM |
|
Alpha-mann_mid
|
502 |
588 |
1.4e-32 |
SMART |
|
Pfam:Glyco_hydro_38C
|
648 |
1148 |
1.1e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
|
| Predicted Effect |
silent
Transcript: ENSMUST00000206807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null males are infertile due to a defect during spermatogenesis involving the premature release of germ cells from the seminiferous tubules into the epididymis. [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 |
|---|
| 4930438A08Rik |
T |
G |
11: 58,184,210 (GRCm39) |
L299R |
unknown |
Het |
| Abca9 |
T |
G |
11: 110,035,087 (GRCm39) |
R693S |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,227,795 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
A |
10: 42,302,493 (GRCm39) |
D169V |
probably damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,890 (GRCm39) |
M663K |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,791,039 (GRCm39) |
I86F |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,424 (GRCm39) |
E160K |
probably null |
Het |
| As3mt |
G |
T |
19: 46,696,233 (GRCm39) |
V14F |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,791,171 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d1 |
T |
A |
8: 106,257,591 (GRCm39) |
I113F |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,801,881 (GRCm39) |
V59A |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,713,453 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,810,473 (GRCm39) |
N721K |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,771,699 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
A |
7: 101,434,656 (GRCm39) |
L484* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,825,739 (GRCm39) |
M127L |
probably benign |
Het |
| Cstdc1 |
A |
T |
2: 148,625,327 (GRCm39) |
H87L |
possibly damaging |
Het |
| Ctla2b |
A |
C |
13: 61,043,874 (GRCm39) |
D122E |
probably damaging |
Het |
| Cyb5rl |
C |
A |
4: 106,938,225 (GRCm39) |
Y12* |
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,507,588 (GRCm39) |
Y800C |
probably damaging |
Het |
| Dmrt3 |
T |
G |
19: 25,600,411 (GRCm39) |
S419A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,443,674 (GRCm39) |
W31R |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,655,543 (GRCm39) |
V381A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,498 (GRCm39) |
H842L |
unknown |
Het |
| Fn1 |
A |
T |
1: 71,653,197 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
C |
12: 85,522,630 (GRCm39) |
T181P |
possibly damaging |
Het |
| Fzd10 |
A |
G |
5: 128,679,669 (GRCm39) |
Y463C |
possibly damaging |
Het |
| Gprc5b |
T |
C |
7: 118,582,856 (GRCm39) |
M338V |
probably benign |
Het |
| Gsta4 |
T |
C |
9: 78,113,345 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
A |
3: 107,893,362 (GRCm39) |
T34S |
probably benign |
Het |
| Haspin |
C |
T |
11: 73,027,451 (GRCm39) |
R546Q |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,802,204 (GRCm39) |
R958H |
probably benign |
Het |
| Kansl1l |
A |
T |
1: 66,774,884 (GRCm39) |
H647Q |
probably damaging |
Het |
| Kif5c |
A |
C |
2: 49,634,455 (GRCm39) |
R762S |
probably benign |
Het |
| Klf4 |
C |
A |
4: 55,530,758 (GRCm39) |
A68S |
possibly damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,811 (GRCm39) |
L50P |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,802 (GRCm39) |
E3502G |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,909,022 (GRCm39) |
I202T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,287,649 (GRCm39) |
T112S |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,575 (GRCm39) |
C340R |
probably damaging |
Het |
| Map10 |
G |
A |
8: 126,397,809 (GRCm39) |
E401K |
probably benign |
Het |
| Mark4 |
A |
T |
7: 19,185,509 (GRCm39) |
L75Q |
probably damaging |
Het |
| Mlf2 |
T |
G |
6: 124,910,945 (GRCm39) |
M81R |
probably damaging |
Het |
| Mup3 |
A |
G |
4: 62,005,079 (GRCm39) |
I67T |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,404,769 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,970,476 (GRCm39) |
V1185A |
probably benign |
Het |
| Ncoa7 |
C |
T |
10: 30,574,121 (GRCm39) |
|
probably null |
Het |
| Nos1 |
C |
A |
5: 118,005,323 (GRCm39) |
N14K |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,684,494 (GRCm39) |
V116F |
unknown |
Het |
| Obox3 |
G |
A |
7: 15,360,927 (GRCm39) |
|
probably benign |
Het |
| Or10h1 |
A |
T |
17: 33,418,534 (GRCm39) |
T171S |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,653 (GRCm39) |
|
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,539 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,597 (GRCm39) |
S279C |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,446 (GRCm39) |
|
probably benign |
Het |
| Parvb |
T |
A |
15: 84,193,044 (GRCm39) |
|
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,184 (GRCm39) |
T202S |
probably damaging |
Het |
| Ppm1j |
T |
A |
3: 104,692,725 (GRCm39) |
Y411* |
probably null |
Het |
| Rapgefl1 |
C |
A |
11: 98,740,058 (GRCm39) |
L484M |
probably damaging |
Het |
| Septin14 |
A |
G |
5: 129,774,797 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,232,554 (GRCm39) |
C517R |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,921,898 (GRCm39) |
|
probably null |
Het |
| Snx9 |
A |
G |
17: 5,974,885 (GRCm39) |
T458A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,661,598 (GRCm39) |
D514G |
possibly damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,682,308 (GRCm39) |
S311P |
probably damaging |
Het |
| Timd6 |
C |
A |
11: 46,475,244 (GRCm39) |
F146L |
probably benign |
Het |
| Tmem150c |
T |
G |
5: 100,234,076 (GRCm39) |
K91N |
probably damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,277 (GRCm39) |
M471K |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,443,825 (GRCm39) |
G178C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,262 (GRCm39) |
K847E |
possibly damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,301 (GRCm39) |
H225L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,758,851 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
T |
G |
14: 70,918,702 (GRCm39) |
S710R |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,662,417 (GRCm39) |
V713I |
possibly damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,378,592 (GRCm39) |
I197N |
probably damaging |
Het |
|
| Other mutations in Man2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Man2a2
|
APN |
7 |
80,010,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01405:Man2a2
|
APN |
7 |
80,010,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01717:Man2a2
|
APN |
7 |
80,017,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01843:Man2a2
|
APN |
7 |
80,012,654 (GRCm39) |
missense |
probably benign |
|
|
IGL02212:Man2a2
|
APN |
7 |
80,012,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02383:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02434:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02493:Man2a2
|
APN |
7 |
80,019,363 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02528:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02529:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02530:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02534:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02869:Man2a2
|
APN |
7 |
80,013,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03084:Man2a2
|
APN |
7 |
80,002,691 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03377:Man2a2
|
APN |
7 |
80,008,800 (GRCm39) |
splice site |
probably null |
|
|
IGL03412:Man2a2
|
APN |
7 |
80,016,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dugong
|
UTSW |
7 |
80,010,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2090_Man2a2_705
|
UTSW |
7 |
80,013,858 (GRCm39) |
unclassified |
probably benign |
|
|
R7828_Man2a2_437
|
UTSW |
7 |
80,016,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0112:Man2a2
|
UTSW |
7 |
80,008,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Man2a2
|
UTSW |
7 |
80,017,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Man2a2
|
UTSW |
7 |
80,012,945 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1184:Man2a2
|
UTSW |
7 |
80,012,713 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1445:Man2a2
|
UTSW |
7 |
80,018,310 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1626:Man2a2
|
UTSW |
7 |
80,017,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Man2a2
|
UTSW |
7 |
80,012,186 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1820:Man2a2
|
UTSW |
7 |
80,008,681 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2090:Man2a2
|
UTSW |
7 |
80,013,858 (GRCm39) |
unclassified |
probably benign |
|
|
R2144:Man2a2
|
UTSW |
7 |
80,013,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Man2a2
|
UTSW |
7 |
80,017,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Man2a2
|
UTSW |
7 |
80,012,063 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4181:Man2a2
|
UTSW |
7 |
80,001,487 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4285:Man2a2
|
UTSW |
7 |
80,018,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4302:Man2a2
|
UTSW |
7 |
80,001,487 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4440:Man2a2
|
UTSW |
7 |
80,001,463 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4494:Man2a2
|
UTSW |
7 |
80,009,023 (GRCm39) |
splice site |
probably null |
|
|
R4564:Man2a2
|
UTSW |
7 |
80,018,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4631:Man2a2
|
UTSW |
7 |
80,012,211 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5328:Man2a2
|
UTSW |
7 |
80,018,504 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5329:Man2a2
|
UTSW |
7 |
80,010,876 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5468:Man2a2
|
UTSW |
7 |
80,002,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5774:Man2a2
|
UTSW |
7 |
80,018,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Man2a2
|
UTSW |
7 |
80,002,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5915:Man2a2
|
UTSW |
7 |
80,010,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5937:Man2a2
|
UTSW |
7 |
80,013,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Man2a2
|
UTSW |
7 |
80,016,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Man2a2
|
UTSW |
7 |
80,016,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Man2a2
|
UTSW |
7 |
80,013,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6592:Man2a2
|
UTSW |
7 |
80,002,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6869:Man2a2
|
UTSW |
7 |
80,012,693 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6918:Man2a2
|
UTSW |
7 |
80,002,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7137:Man2a2
|
UTSW |
7 |
80,009,499 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7236:Man2a2
|
UTSW |
7 |
80,018,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Man2a2
|
UTSW |
7 |
80,002,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7523:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7583:Man2a2
|
UTSW |
7 |
80,016,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Man2a2
|
UTSW |
7 |
80,001,497 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7828:Man2a2
|
UTSW |
7 |
80,016,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7843:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7845:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7847:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7848:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7984:Man2a2
|
UTSW |
7 |
80,003,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8194:Man2a2
|
UTSW |
7 |
80,010,766 (GRCm39) |
missense |
probably benign |
|
|
R8296:Man2a2
|
UTSW |
7 |
80,018,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8376:Man2a2
|
UTSW |
7 |
80,010,671 (GRCm39) |
nonsense |
probably null |
|
|
R8515:Man2a2
|
UTSW |
7 |
80,018,038 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8842:Man2a2
|
UTSW |
7 |
80,003,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Man2a2
|
UTSW |
7 |
80,010,868 (GRCm39) |
missense |
probably benign |
|
|
R9563:Man2a2
|
UTSW |
7 |
80,006,101 (GRCm39) |
missense |
probably benign |
|
|
X0057:Man2a2
|
UTSW |
7 |
80,012,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation