Incidental Mutation 'R4114:Cym'
| ID |
314540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cym
|
| Ensembl Gene |
ENSMUSG00000046213 |
| Gene Name |
chymosin |
| Synonyms |
LOC229697, Gm131 |
| MMRRC Submission |
040990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107118611-107129048 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107127065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 30
(L30Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029504]
|
| AlphaFold |
B7ZWD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029504
AA Change: L30Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: L30Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:A1_Propeptide
|
19 |
45 |
1.5e-16 |
PFAM |
|
Pfam:Asp
|
73 |
378 |
5.8e-110 |
PFAM |
|
Pfam:TAXi_N
|
74 |
228 |
3.6e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
| Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
| Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
| Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
| Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
| Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
| Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
probably benign |
Het |
|
| Other mutations in Cym |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02442:Cym
|
APN |
3 |
107,121,601 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02480:Cym
|
APN |
3 |
107,120,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03224:Cym
|
APN |
3 |
107,126,048 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1466:Cym
|
UTSW |
3 |
107,120,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Cym
|
UTSW |
3 |
107,120,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Cym
|
UTSW |
3 |
107,120,741 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1768:Cym
|
UTSW |
3 |
107,120,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Cym
|
UTSW |
3 |
107,126,030 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4093:Cym
|
UTSW |
3 |
107,121,582 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4094:Cym
|
UTSW |
3 |
107,121,582 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4583:Cym
|
UTSW |
3 |
107,118,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Cym
|
UTSW |
3 |
107,123,413 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5844:Cym
|
UTSW |
3 |
107,127,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5953:Cym
|
UTSW |
3 |
107,120,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Cym
|
UTSW |
3 |
107,121,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Cym
|
UTSW |
3 |
107,127,009 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7563:Cym
|
UTSW |
3 |
107,121,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Cym
|
UTSW |
3 |
107,129,025 (GRCm39) |
start gained |
probably benign |
|
|
R8365:Cym
|
UTSW |
3 |
107,120,182 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8670:Cym
|
UTSW |
3 |
107,118,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8728:Cym
|
UTSW |
3 |
107,125,991 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9598:Cym
|
UTSW |
3 |
107,126,941 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAACATTAGAATCTGTGCC -3'
(R):5'- ACCAGAGTGTAGTAGTTAATGACAC -3'
Sequencing Primer
(F):5'- CATTAGAATCTGTGCCTGAGAAGGTC -3'
(R):5'- AGTGATCTGTAAAGCAACATAGAATC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation