Incidental Mutation 'IGL03377:Man2a2'
| ID |
420562 |
| 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: 0.167)
|
| Stock # |
IGL03377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 80008800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098346
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
| 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 |
probably null
Transcript: ENSMUST00000098346
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
| 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 |
probably benign
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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,096,256 (GRCm39) |
I489L |
probably benign |
Het |
| Acox3 |
T |
C |
5: 35,751,676 (GRCm39) |
L237P |
probably damaging |
Het |
| Ahi1 |
T |
G |
10: 20,893,903 (GRCm39) |
I878S |
possibly damaging |
Het |
| Alox15 |
T |
A |
11: 70,240,488 (GRCm39) |
Y231F |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,238,700 (GRCm39) |
K342M |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,519 (GRCm39) |
I150M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,958 (GRCm39) |
Y822H |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,581,754 (GRCm39) |
Y628H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,449,056 (GRCm39) |
Y141N |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,116 (GRCm39) |
V166A |
probably damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,671,259 (GRCm39) |
A126T |
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,674,755 (GRCm39) |
E409G |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,678,456 (GRCm39) |
I621V |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,536,181 (GRCm39) |
|
probably null |
Het |
| Epha2 |
T |
A |
4: 141,049,723 (GRCm39) |
S776R |
probably benign |
Het |
| Fam107b |
A |
T |
2: 3,779,481 (GRCm39) |
E52V |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,381 (GRCm39) |
N18S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,968,597 (GRCm39) |
F460I |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,800,247 (GRCm39) |
I329N |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,783,848 (GRCm39) |
S254G |
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,489,478 (GRCm39) |
H688Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,890,937 (GRCm39) |
E898G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,019,021 (GRCm39) |
D368E |
probably benign |
Het |
| Gucy1a1 |
T |
A |
3: 82,013,322 (GRCm39) |
H440L |
probably damaging |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,377 (GRCm39) |
D113V |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,727,964 (GRCm39) |
E554* |
probably null |
Het |
| Itpr2 |
T |
A |
6: 146,231,256 (GRCm39) |
T1135S |
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,231,213 (GRCm39) |
V1182G |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,189,492 (GRCm39) |
I69T |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,345 (GRCm39) |
K354* |
probably null |
Het |
| Krt222 |
T |
A |
11: 99,127,339 (GRCm39) |
K159* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,529,369 (GRCm39) |
E2004G |
possibly damaging |
Het |
| Med24 |
A |
G |
11: 98,595,962 (GRCm39) |
F963L |
possibly damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,930,943 (GRCm39) |
E744G |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,028,644 (GRCm39) |
S140P |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,344,878 (GRCm39) |
F331L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,890,699 (GRCm39) |
G1798W |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,589 (GRCm39) |
V298D |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,353,341 (GRCm39) |
P110L |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,347,747 (GRCm39) |
|
probably null |
Het |
| Prdm5 |
A |
G |
6: 65,836,457 (GRCm39) |
H256R |
possibly damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,473 (GRCm39) |
Y267H |
probably damaging |
Het |
| Rfpl4 |
T |
G |
7: 5,113,464 (GRCm39) |
Y239S |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,846,953 (GRCm39) |
M592L |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,012 (GRCm39) |
H32L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,735 (GRCm39) |
T660S |
unknown |
Het |
| Slc26a2 |
T |
C |
18: 61,331,658 (GRCm39) |
N591S |
probably damaging |
Het |
| Slc9b2 |
C |
T |
3: 135,042,119 (GRCm39) |
A466V |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,180,492 (GRCm39) |
T637S |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,533,338 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,259,594 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,817 (GRCm39) |
M207V |
possibly damaging |
Het |
| Wdcp |
T |
G |
12: 4,900,691 (GRCm39) |
Y182* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,531,416 (GRCm39) |
T105A |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,913,168 (GRCm39) |
K30R |
possibly 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 |
|
IGL03088:Man2a2
|
APN |
7 |
80,009,082 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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