Incidental Mutation 'R3977:Man1c1'
ID |
311065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man1c1
|
Ensembl Gene |
ENSMUSG00000037306 |
Gene Name |
mannosidase, alpha, class 1C, member 1 |
Synonyms |
|
MMRRC Submission |
040940-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R3977 (G1)
|
Quality Score |
136 |
Status
|
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
C |
T |
11: 105,872,664 (GRCm39) |
P942L |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
Brpf3 |
A |
G |
17: 29,026,016 (GRCm39) |
E363G |
possibly damaging |
Het |
Ccdc96 |
T |
C |
5: 36,642,510 (GRCm39) |
L172P |
possibly damaging |
Het |
Cln3 |
G |
A |
7: 126,179,308 (GRCm39) |
|
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,668,071 (GRCm39) |
I1526T |
possibly damaging |
Het |
Entr1 |
T |
A |
2: 26,274,805 (GRCm39) |
N364I |
probably damaging |
Het |
Fmo3 |
T |
G |
1: 162,786,147 (GRCm39) |
E281A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,309,470 (GRCm39) |
I194V |
probably benign |
Het |
Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,126,098 (GRCm39) |
V396A |
probably benign |
Het |
Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
Il19 |
A |
T |
1: 130,863,770 (GRCm39) |
C74S |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,719,562 (GRCm39) |
T703A |
unknown |
Het |
Lrig2 |
A |
T |
3: 104,365,160 (GRCm39) |
V664E |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,348,430 (GRCm39) |
K2755R |
unknown |
Het |
Mbtd1 |
A |
G |
11: 93,796,001 (GRCm39) |
N13D |
probably benign |
Het |
Mfsd4b5 |
T |
C |
10: 39,850,704 (GRCm39) |
|
probably benign |
Het |
Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
Ogfod2 |
C |
A |
5: 124,251,272 (GRCm39) |
|
probably null |
Het |
Or10q3 |
C |
A |
19: 11,847,869 (GRCm39) |
R237L |
possibly damaging |
Het |
Or10v1 |
T |
A |
19: 11,873,880 (GRCm39) |
F165Y |
probably damaging |
Het |
Or11a4 |
T |
C |
17: 37,536,049 (GRCm39) |
V11A |
probably benign |
Het |
Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
Or4c3 |
C |
A |
2: 89,852,089 (GRCm39) |
G107V |
probably damaging |
Het |
Or6c5 |
C |
T |
10: 129,074,377 (GRCm39) |
R120C |
probably damaging |
Het |
Pkmyt1 |
A |
G |
17: 23,954,305 (GRCm39) |
M362V |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,693,713 (GRCm39) |
S983P |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,780,957 (GRCm39) |
|
probably benign |
Het |
Raph1 |
A |
T |
1: 60,537,682 (GRCm39) |
D491E |
probably benign |
Het |
Rc3h1 |
A |
G |
1: 160,786,969 (GRCm39) |
|
probably null |
Het |
Rtn4 |
T |
C |
11: 29,643,819 (GRCm39) |
L5P |
probably benign |
Het |
Slc23a4 |
C |
T |
6: 34,930,723 (GRCm39) |
V400I |
probably benign |
Het |
Slco1a5 |
A |
G |
6: 142,204,698 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
T |
C |
7: 105,205,108 (GRCm39) |
F329S |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
Ten1 |
G |
A |
11: 116,107,771 (GRCm39) |
|
probably null |
Het |
Tfap2d |
C |
G |
1: 19,174,718 (GRCm39) |
S57C |
possibly damaging |
Het |
Tnr |
A |
G |
1: 159,719,593 (GRCm39) |
M957V |
probably benign |
Het |
Trbv13-3 |
A |
G |
6: 41,107,079 (GRCm39) |
|
probably benign |
Het |
Trp53rkb |
C |
T |
2: 166,637,446 (GRCm39) |
A134V |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,607,345 (GRCm39) |
Y126C |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably 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 |
R2171: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 |
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'- CCTTTCCTACGGAGAACACC -3'
(R):5'- CTCCAAACTCCCTGAACTTCGG -3'
Sequencing Primer
(F):5'- TCCTGCTCTGACACCGAGTG -3'
(R):5'- TGAACTTCGGGCGGGTC -3'
|
Posted On |
2015-04-29 |