Incidental Mutation 'IGL03224:Cym'
| ID |
413738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cym
|
| Ensembl Gene |
ENSMUSG00000046213 |
| Gene Name |
chymosin |
| Synonyms |
LOC229697, Gm131 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107118611-107129048 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107126048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 72
(S72G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029504]
|
| AlphaFold |
B7ZWD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029504
AA Change: S72G
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: S72G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
C |
3: 88,942,575 (GRCm39) |
|
probably benign |
Het |
| Capn10 |
T |
G |
1: 92,867,046 (GRCm39) |
V92G |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,450,780 (GRCm39) |
C532R |
probably damaging |
Het |
| Csf1r |
T |
C |
18: 61,245,134 (GRCm39) |
F233L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,547 (GRCm39) |
D82G |
probably damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,104,247 (GRCm39) |
M105K |
probably damaging |
Het |
| Dhx35 |
T |
C |
2: 158,699,052 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
C |
A |
15: 28,459,300 (GRCm39) |
D4506E |
probably damaging |
Het |
| Dok5 |
T |
C |
2: 170,674,807 (GRCm39) |
F139L |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,076,235 (GRCm39) |
D2974G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,340,092 (GRCm39) |
T795I |
probably damaging |
Het |
| Ints6l |
A |
G |
X: 55,543,287 (GRCm39) |
T525A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,361,043 (GRCm39) |
T587A |
possibly damaging |
Het |
| Meikin |
A |
G |
11: 54,289,286 (GRCm39) |
M220V |
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,350,002 (GRCm39) |
|
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,180,283 (GRCm39) |
Y1190C |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,185,525 (GRCm39) |
K963E |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,322,569 (GRCm39) |
D2614G |
probably damaging |
Het |
| Ppp1r3f |
A |
G |
X: 7,426,821 (GRCm39) |
V480A |
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,116,147 (GRCm39) |
K209* |
probably null |
Het |
| Rasgef1a |
A |
G |
6: 118,066,767 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,784,681 (GRCm39) |
C233* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,933,520 (GRCm39) |
R1534G |
probably damaging |
Het |
| Slitrk3 |
A |
T |
3: 72,957,263 (GRCm39) |
L503H |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 99,918,156 (GRCm39) |
K380E |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,840 (GRCm39) |
V1096A |
possibly damaging |
Het |
| Synrg |
C |
T |
11: 83,930,492 (GRCm39) |
T1278M |
possibly damaging |
Het |
| Teddm1a |
G |
T |
1: 153,767,763 (GRCm39) |
V76F |
possibly damaging |
Het |
| Troap |
A |
G |
15: 98,979,758 (GRCm39) |
T365A |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,391,776 (GRCm39) |
|
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 |
|
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 |
|
R4114:Cym
|
UTSW |
3 |
107,127,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation