Incidental Mutation 'R4037:Man1c1'
| ID |
313749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man1c1
|
| Ensembl Gene |
ENSMUSG00000037306 |
| Gene Name |
mannosidase, alpha, class 1C, member 1 |
| Synonyms |
|
| MMRRC Submission |
040964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R4037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134289001-134431601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 134320650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 217
(D217N)
|
| 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: D217N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037949
Gene: ENSMUSG00000037306
AA Change: D217N
| 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: D217N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050979
Gene: ENSMUSG00000037306
AA Change: D217N
| 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 |
0.9629 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,597,319 (GRCm39) |
F881L |
probably benign |
Het |
| Capn6 |
A |
G |
X: 142,590,859 (GRCm39) |
W291R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,033 (GRCm39) |
I776V |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,378,087 (GRCm39) |
R564H |
unknown |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 72,483,468 (GRCm39) |
L17P |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,708,490 (GRCm39) |
Q206* |
probably null |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,776,987 (GRCm39) |
T226A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,648,253 (GRCm39) |
T678S |
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,290 (GRCm39) |
S1338L |
probably damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,421,379 (GRCm39) |
V27I |
probably benign |
Het |
| Or4c113 |
A |
G |
2: 88,885,032 (GRCm39) |
V246A |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,443,882 (GRCm39) |
I241T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
A |
6: 88,450,117 (GRCm39) |
M96K |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,881 (GRCm39) |
I1880V |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,935 (GRCm39) |
N885D |
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,055,101 (GRCm39) |
D318G |
probably benign |
Het |
| Slc38a4 |
G |
A |
15: 96,894,923 (GRCm39) |
A531V |
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,783,951 (GRCm39) |
G658R |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
G |
T |
16: 32,489,614 (GRCm39) |
A298S |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
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 |
|
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 |
|
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'- CTCAGGGTATATACTGCAGCC -3'
(R):5'- GATAGCGGGTCCATTCTCAC -3'
Sequencing Primer
(F):5'- GGTATATACTGCAGCCTGGCTC -3'
(R):5'- ACCTTTACTGGTGGTACTAGAGTCAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation