Incidental Mutation 'R7266:Manba'
| ID |
564918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Manba
|
| Ensembl Gene |
ENSMUSG00000028164 |
| Gene Name |
mannosidase, beta A, lysosomal |
| Synonyms |
B930014J03Rik, Bmn, 2410030O07Rik |
| MMRRC Submission |
045389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135223673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 187
(S187P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029814]
[ENSMUST00000131610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029814
AA Change: S187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: S187P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_2_N
|
42 |
211 |
6.5e-11 |
PFAM |
|
Pfam:Glyco_hydro_2_C
|
340 |
595 |
3.8e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131610
|
| SMART Domains |
Protein: ENSMUSP00000122148
Gene: ENSMUSG00000028164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_2_N
|
22 |
163 |
1.8e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [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 |
|---|
| Adam18 |
T |
A |
8: 25,157,639 (GRCm39) |
I104F |
probably benign |
Het |
| Adgrg7 |
C |
T |
16: 56,590,674 (GRCm39) |
V166I |
probably benign |
Het |
| Agfg1 |
G |
T |
1: 82,859,966 (GRCm39) |
V278L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,328 (GRCm39) |
E715G |
possibly damaging |
Het |
| Ap2m1 |
A |
G |
16: 20,362,095 (GRCm39) |
Y401C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,960 (GRCm39) |
S838N |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,317,233 (GRCm39) |
Y373* |
probably null |
Het |
| Best2 |
C |
T |
8: 85,734,393 (GRCm39) |
V442I |
probably benign |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,175,856 (GRCm39) |
D1619V |
probably damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,499,446 (GRCm39) |
N1272I |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,417,995 (GRCm39) |
*779C |
probably null |
Het |
| Gm12216 |
G |
A |
11: 53,750,077 (GRCm39) |
|
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,524,370 (GRCm39) |
V311I |
|
Het |
| Immt |
T |
A |
6: 71,851,689 (GRCm39) |
D683E |
probably benign |
Het |
| Itga8 |
T |
G |
2: 12,237,712 (GRCm39) |
D336A |
probably damaging |
Het |
| Jhy |
T |
C |
9: 40,872,453 (GRCm39) |
T19A |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,776,885 (GRCm39) |
M1V |
probably null |
Het |
| Kctd17 |
A |
T |
15: 78,317,214 (GRCm39) |
I117F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,364 (GRCm39) |
T420A |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,616,938 (GRCm39) |
D13V |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,902,963 (GRCm39) |
F145L |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,922,497 (GRCm39) |
D551E |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,973 (GRCm39) |
V154A |
possibly damaging |
Het |
| Myo10 |
C |
G |
15: 25,783,067 (GRCm39) |
R1170G |
probably damaging |
Het |
| Myo16 |
A |
C |
8: 10,322,687 (GRCm39) |
Q39P |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,820,668 (GRCm39) |
E837G |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,333,274 (GRCm39) |
I128F |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,448 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,215,222 (GRCm39) |
R659* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,028 (GRCm39) |
Q881R |
possibly damaging |
Het |
| Plekhm2 |
T |
G |
4: 141,369,770 (GRCm39) |
E75A |
possibly damaging |
Het |
| Prc1 |
A |
G |
7: 79,957,405 (GRCm39) |
K357E |
possibly damaging |
Het |
| Pxk |
T |
A |
14: 8,146,220 (GRCm38) |
C377S |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,488 (GRCm39) |
E1696G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,600,590 (GRCm39) |
S1532R |
unknown |
Het |
| Scn5a |
G |
T |
9: 119,391,626 (GRCm39) |
A22E |
probably benign |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Siae |
T |
C |
9: 37,534,309 (GRCm39) |
V115A |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,344,107 (GRCm39) |
C563R |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,752,243 (GRCm39) |
V58G |
possibly damaging |
Het |
| Snx11 |
C |
T |
11: 96,663,985 (GRCm39) |
V36M |
probably damaging |
Het |
| Stk3 |
C |
A |
15: 34,959,182 (GRCm39) |
S330I |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,762,631 (GRCm39) |
F92S |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,057,924 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
A |
G |
15: 94,829,684 (GRCm39) |
D173G |
possibly damaging |
Het |
| Tmem217b |
C |
A |
17: 29,738,347 (GRCm39) |
V140L |
probably benign |
Het |
| Tmprss5 |
T |
C |
9: 49,025,841 (GRCm39) |
W338R |
probably benign |
Het |
| Tnfrsf19 |
T |
C |
14: 61,212,147 (GRCm39) |
T168A |
possibly damaging |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trim56 |
G |
T |
5: 137,143,097 (GRCm39) |
Q140K |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,918 (GRCm39) |
V28679M |
probably damaging |
Het |
| Ubxn8 |
G |
A |
8: 34,113,231 (GRCm39) |
R208C |
probably damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,482 (GRCm39) |
S694* |
probably null |
Het |
| Wdr38 |
T |
A |
2: 38,890,276 (GRCm39) |
W137R |
probably damaging |
Het |
| Zdhhc6 |
G |
T |
19: 55,292,932 (GRCm39) |
N271K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,575,744 (GRCm39) |
S446P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,649,492 (GRCm39) |
Q867R |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,402 (GRCm39) |
I294T |
probably benign |
Het |
|
| Other mutations in Manba |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Manba
|
APN |
3 |
135,260,541 (GRCm39) |
nonsense |
probably null |
|
|
IGL01443:Manba
|
APN |
3 |
135,250,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Manba
|
APN |
3 |
135,248,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Manba
|
APN |
3 |
135,250,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Manba
|
APN |
3 |
135,212,769 (GRCm39) |
splice site |
probably benign |
|
|
IGL02809:Manba
|
APN |
3 |
135,253,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Manba
|
APN |
3 |
135,276,024 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02934:Manba
|
APN |
3 |
135,250,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03130:Manba
|
APN |
3 |
135,256,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Manba
|
APN |
3 |
135,250,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Manba
|
APN |
3 |
135,223,748 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0551:Manba
|
UTSW |
3 |
135,223,734 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1549:Manba
|
UTSW |
3 |
135,250,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Manba
|
UTSW |
3 |
135,212,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Manba
|
UTSW |
3 |
135,250,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1991:Manba
|
UTSW |
3 |
135,256,952 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3729:Manba
|
UTSW |
3 |
135,260,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Manba
|
UTSW |
3 |
135,260,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3813:Manba
|
UTSW |
3 |
135,269,023 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4712:Manba
|
UTSW |
3 |
135,250,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Manba
|
UTSW |
3 |
135,273,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5481:Manba
|
UTSW |
3 |
135,230,317 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5889:Manba
|
UTSW |
3 |
135,230,359 (GRCm39) |
nonsense |
probably null |
|
|
R6033:Manba
|
UTSW |
3 |
135,255,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Manba
|
UTSW |
3 |
135,255,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6434:Manba
|
UTSW |
3 |
135,217,734 (GRCm39) |
splice site |
probably null |
|
|
R6760:Manba
|
UTSW |
3 |
135,248,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7164:Manba
|
UTSW |
3 |
135,248,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Manba
|
UTSW |
3 |
135,273,274 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7184:Manba
|
UTSW |
3 |
135,228,915 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7212:Manba
|
UTSW |
3 |
135,273,396 (GRCm39) |
missense |
probably benign |
|
|
R7271:Manba
|
UTSW |
3 |
135,248,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Manba
|
UTSW |
3 |
135,248,154 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7467:Manba
|
UTSW |
3 |
135,250,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Manba
|
UTSW |
3 |
135,272,354 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7546:Manba
|
UTSW |
3 |
135,276,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7726:Manba
|
UTSW |
3 |
135,223,770 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8475:Manba
|
UTSW |
3 |
135,217,573 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8768:Manba
|
UTSW |
3 |
135,256,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Manba
|
UTSW |
3 |
135,223,764 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9140:Manba
|
UTSW |
3 |
135,191,490 (GRCm39) |
missense |
probably benign |
|
|
R9449:Manba
|
UTSW |
3 |
135,255,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Manba
|
UTSW |
3 |
135,269,035 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAACTGCTGTACGCGTG -3'
(R):5'- CTACAGGCCTGGTTTATGCTG -3'
Sequencing Primer
(F):5'- CTCAATACAGATGGTTGTGAGCCAC -3'
(R):5'- TGCTGTAAGTTTTCATGACAAACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation