Incidental Mutation 'R4065:Man1c1'
| ID |
316050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man1c1
|
| Ensembl Gene |
ENSMUSG00000037306 |
| Gene Name |
mannosidase, alpha, class 1C, member 1 |
| Synonyms |
|
| MMRRC Submission |
040972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4065 (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: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,966,073 (GRCm39) |
R178* |
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,591,616 (GRCm39) |
E769G |
probably damaging |
Het |
| Adcy9 |
C |
A |
16: 4,106,298 (GRCm39) |
V939F |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,308,396 (GRCm39) |
F1643S |
probably damaging |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,646 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,019,397 (GRCm39) |
I306T |
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,570,584 (GRCm39) |
F26I |
probably damaging |
Het |
| Cant1 |
G |
T |
11: 118,298,823 (GRCm39) |
D313E |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,101,276 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,492,405 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,451,639 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,063,346 (GRCm39) |
H4434L |
probably benign |
Het |
| Fbxo16 |
T |
A |
14: 65,508,278 (GRCm39) |
N31K |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,467,206 (GRCm39) |
I183T |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,394 (GRCm39) |
Y428C |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Grem1 |
A |
G |
2: 113,580,033 (GRCm39) |
L156P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,835,270 (GRCm39) |
H1530Q |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Mga |
T |
C |
2: 119,777,483 (GRCm39) |
V1846A |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,982,242 (GRCm39) |
H483R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,489 (GRCm39) |
V207A |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,579 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,284,182 (GRCm39) |
L6P |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,718 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,134 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,213,300 (GRCm39) |
K637* |
probably null |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,184,658 (GRCm39) |
Q325L |
unknown |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Spcs2 |
A |
G |
7: 99,494,012 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,052,210 (GRCm39) |
T77A |
possibly damaging |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uhrf1 |
T |
A |
17: 56,625,020 (GRCm39) |
I521N |
probably damaging |
Het |
| Uros |
A |
G |
7: 133,304,057 (GRCm39) |
|
probably null |
Het |
| Usp47 |
A |
G |
7: 111,652,623 (GRCm39) |
D100G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,837,073 (GRCm39) |
R337G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,006 (GRCm39) |
T3147A |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Zfp654 |
G |
A |
16: 64,606,288 (GRCm39) |
T638M |
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 |
|
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 |
|
R4037:Man1c1
|
UTSW |
4 |
134,320,650 (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'- CAAACTCCCTGAACTTCGGG -3'
Sequencing Primer
(F):5'- TCCTGCTCTGACACCGAGTG -3'
(R):5'- TGAACTTCGGGCGGGTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation