Incidental Mutation 'R2171:Man1c1'
ID |
237472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man1c1
|
Ensembl Gene |
ENSMUSG00000037306 |
Gene Name |
mannosidase, alpha, class 1C, member 1 |
Synonyms |
|
MMRRC Submission |
040173-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R2171 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
134289001-134431601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 134430749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Arginine
at position 11
(P11R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038628]
[ENSMUST00000054096]
|
AlphaFold |
Q6NXK9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038628
AA Change: P11R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037949 Gene: ENSMUSG00000037306 AA Change: P11R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
176 |
612 |
9.9e-147 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054096
AA Change: P11R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050979 Gene: ENSMUSG00000037306 AA Change: P11R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
176 |
612 |
1.1e-147 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176606
|
Meta Mutation Damage Score |
0.3035 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
A |
G |
13: 23,606,387 (GRCm39) |
L189P |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,660,362 (GRCm39) |
S377* |
probably null |
Het |
Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
Arv1 |
T |
G |
8: 125,455,094 (GRCm39) |
C102W |
probably damaging |
Het |
Asb18 |
T |
C |
1: 89,896,419 (GRCm39) |
H207R |
probably benign |
Het |
Bach2 |
T |
C |
4: 32,501,662 (GRCm39) |
V13A |
probably damaging |
Het |
Bccip |
T |
C |
7: 133,320,843 (GRCm39) |
S206P |
probably benign |
Het |
Cdhr4 |
T |
C |
9: 107,870,117 (GRCm39) |
S41P |
probably benign |
Het |
Chd7 |
A |
G |
4: 8,752,424 (GRCm39) |
Y307C |
probably damaging |
Het |
Clec4f |
A |
T |
6: 83,629,846 (GRCm39) |
S237R |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,116,132 (GRCm39) |
D538G |
possibly damaging |
Het |
Col9a2 |
T |
A |
4: 120,902,198 (GRCm39) |
C173* |
probably null |
Het |
Ctr9 |
T |
A |
7: 110,646,117 (GRCm39) |
M703K |
possibly damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,729,057 (GRCm39) |
Y83C |
probably damaging |
Het |
Eef1akmt3 |
A |
C |
10: 126,868,843 (GRCm39) |
D210E |
probably benign |
Het |
Erbin |
A |
G |
13: 103,971,466 (GRCm39) |
F717L |
probably benign |
Het |
Gtf3a |
A |
G |
5: 146,892,272 (GRCm39) |
N341S |
probably benign |
Het |
Hltf |
T |
C |
3: 20,113,245 (GRCm39) |
V6A |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,650,358 (GRCm39) |
Y135N |
probably damaging |
Het |
Krt73 |
T |
C |
15: 101,709,345 (GRCm39) |
Q154R |
possibly damaging |
Het |
Lce1a1 |
C |
T |
3: 92,554,048 (GRCm39) |
C142Y |
unknown |
Het |
Lcorl |
A |
T |
5: 45,904,493 (GRCm39) |
I112N |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,598,312 (GRCm39) |
H916Y |
probably damaging |
Het |
Lypla2 |
T |
C |
4: 135,697,915 (GRCm39) |
|
probably null |
Het |
Mmp1a |
T |
A |
9: 7,475,357 (GRCm39) |
D375E |
probably damaging |
Het |
Nlrp14 |
T |
G |
7: 106,781,709 (GRCm39) |
L302R |
probably damaging |
Het |
Npy2r |
T |
G |
3: 82,447,708 (GRCm39) |
T243P |
possibly damaging |
Het |
Or11h4 |
A |
T |
14: 50,973,876 (GRCm39) |
S248T |
probably benign |
Het |
Or51k2 |
T |
C |
7: 103,595,992 (GRCm39) |
V73A |
probably damaging |
Het |
Paqr9 |
A |
T |
9: 95,442,931 (GRCm39) |
H307L |
probably damaging |
Het |
Phc3 |
T |
C |
3: 31,005,078 (GRCm39) |
T172A |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
Pik3c2g |
C |
T |
6: 139,801,012 (GRCm39) |
Q386* |
probably null |
Het |
Pira2 |
T |
C |
7: 3,847,417 (GRCm39) |
S91G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,482,925 (GRCm39) |
N1539K |
probably damaging |
Het |
Poc5 |
C |
T |
13: 96,547,257 (GRCm39) |
H507Y |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,707,925 (GRCm39) |
|
probably benign |
Het |
Pthlh |
T |
G |
6: 147,158,694 (GRCm39) |
K89Q |
probably damaging |
Het |
Rims4 |
A |
T |
2: 163,706,046 (GRCm39) |
|
probably null |
Het |
Rnf138 |
A |
G |
18: 21,159,143 (GRCm39) |
N188D |
probably damaging |
Het |
Rreb1 |
A |
G |
13: 38,114,822 (GRCm39) |
D727G |
probably benign |
Het |
Sc5d |
T |
G |
9: 42,166,682 (GRCm39) |
K286Q |
probably benign |
Het |
Slc10a5 |
C |
T |
3: 10,400,342 (GRCm39) |
G106D |
possibly damaging |
Het |
Smg6 |
A |
T |
11: 74,929,472 (GRCm39) |
Q967L |
probably damaging |
Het |
Spty2d1 |
C |
T |
7: 46,644,361 (GRCm39) |
R636H |
probably damaging |
Het |
Srms |
A |
T |
2: 180,850,573 (GRCm39) |
Y195* |
probably null |
Het |
Susd4 |
A |
G |
1: 182,719,759 (GRCm39) |
D458G |
probably benign |
Het |
Tecta |
T |
C |
9: 42,270,220 (GRCm39) |
R1363G |
probably damaging |
Het |
Thbs1 |
G |
A |
2: 117,953,060 (GRCm39) |
G890D |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 43,996,606 (GRCm39) |
V317A |
probably benign |
Het |
Ttpa |
T |
C |
4: 20,021,357 (GRCm39) |
V175A |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,887,343 (GRCm39) |
D3251Y |
probably benign |
Het |
Vps54 |
A |
G |
11: 21,248,810 (GRCm39) |
D441G |
probably benign |
Het |
Zfp738 |
A |
T |
13: 67,819,096 (GRCm39) |
Y298* |
probably null |
Het |
Zfp804a |
G |
A |
2: 82,087,527 (GRCm39) |
C452Y |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,359,461 (GRCm39) |
K698E |
possibly damaging |
Het |
|
Other mutations in Man1c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Man1c1
|
APN |
4 |
134,291,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02237:Man1c1
|
APN |
4 |
134,311,609 (GRCm39) |
critical splice donor site |
probably null |
|
R0201:Man1c1
|
UTSW |
4 |
134,367,709 (GRCm39) |
splice site |
probably null |
|
R0390:Man1c1
|
UTSW |
4 |
134,305,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Man1c1
|
UTSW |
4 |
134,296,379 (GRCm39) |
nonsense |
probably null |
|
R1108:Man1c1
|
UTSW |
4 |
134,291,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R1518:Man1c1
|
UTSW |
4 |
134,308,100 (GRCm39) |
missense |
probably benign |
0.01 |
R1756:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1914:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1915:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2172:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Man1c1
|
UTSW |
4 |
134,430,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2938:Man1c1
|
UTSW |
4 |
134,430,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2971:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Man1c1
|
UTSW |
4 |
134,430,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R3977:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4037:Man1c1
|
UTSW |
4 |
134,320,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R4065:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4066:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4067:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Man1c1
|
UTSW |
4 |
134,291,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Man1c1
|
UTSW |
4 |
134,430,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4694:Man1c1
|
UTSW |
4 |
134,430,500 (GRCm39) |
missense |
probably benign |
0.27 |
R4766:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Man1c1
|
UTSW |
4 |
134,305,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R5637:Man1c1
|
UTSW |
4 |
134,318,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Man1c1
|
UTSW |
4 |
134,296,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R5939:Man1c1
|
UTSW |
4 |
134,293,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R7251:Man1c1
|
UTSW |
4 |
134,308,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:Man1c1
|
UTSW |
4 |
134,291,814 (GRCm39) |
critical splice donor site |
probably null |
|
R8551:Man1c1
|
UTSW |
4 |
134,430,326 (GRCm39) |
nonsense |
probably null |
|
R8745:Man1c1
|
UTSW |
4 |
134,303,295 (GRCm39) |
missense |
probably damaging |
0.96 |
R9116:Man1c1
|
UTSW |
4 |
134,311,705 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9272:Man1c1
|
UTSW |
4 |
134,291,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R9406:Man1c1
|
UTSW |
4 |
134,303,318 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Man1c1
|
UTSW |
4 |
134,303,318 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Man1c1
|
UTSW |
4 |
134,430,683 (GRCm39) |
missense |
possibly damaging |
0.74 |
X0063:Man1c1
|
UTSW |
4 |
134,303,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTTCCTACGGAGAACAC -3'
(R):5'- CAAACTCCCTGAACTTCGGG -3'
Sequencing Primer
(F):5'- TCCTGCTCTGACACCGAGTG -3'
(R):5'- TGAACTTCGGGCGGGTC -3'
|
Posted On |
2014-10-02 |