Incidental Mutation 'IGL01727:Ctrc'
| ID |
105340 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctrc
|
| Ensembl Gene |
ENSMUSG00000062478 |
| Gene Name |
chymotrypsin C |
| Synonyms |
caldecrin, 1810044E12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141565550-141573598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141571072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 56
(Y56C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037059]
[ENSMUST00000105781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037059
AA Change: Y88C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039879
Gene: ENSMUSG00000062478
AA Change: Y88C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
29 |
261 |
4.88e-87 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105781
AA Change: Y56C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101407
Gene: ENSMUSG00000062478
AA Change: Y56C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
29 |
229 |
9.66e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153282
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176781
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
| Other mutations in Ctrc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Ctrc
|
APN |
4 |
141,566,065 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02085:Ctrc
|
APN |
4 |
141,571,025 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02413:Ctrc
|
APN |
4 |
141,571,028 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02945:Ctrc
|
APN |
4 |
141,573,563 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0625:Ctrc
|
UTSW |
4 |
141,568,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Ctrc
|
UTSW |
4 |
141,573,535 (GRCm39) |
splice site |
probably null |
|
|
R1460:Ctrc
|
UTSW |
4 |
141,566,120 (GRCm39) |
intron |
probably benign |
|
|
R3937:Ctrc
|
UTSW |
4 |
141,567,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Ctrc
|
UTSW |
4 |
141,573,607 (GRCm39) |
splice site |
probably null |
|
|
R4750:Ctrc
|
UTSW |
4 |
141,568,834 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5207:Ctrc
|
UTSW |
4 |
141,567,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5326:Ctrc
|
UTSW |
4 |
141,571,037 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5542:Ctrc
|
UTSW |
4 |
141,571,037 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5641:Ctrc
|
UTSW |
4 |
141,566,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5872:Ctrc
|
UTSW |
4 |
141,572,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Ctrc
|
UTSW |
4 |
141,568,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Ctrc
|
UTSW |
4 |
141,571,022 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7485:Ctrc
|
UTSW |
4 |
141,567,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8001:Ctrc
|
UTSW |
4 |
141,567,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Ctrc
|
UTSW |
4 |
141,565,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Ctrc
|
UTSW |
4 |
141,572,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Ctrc
|
UTSW |
4 |
141,572,507 (GRCm39) |
frame shift |
probably null |
|
|
T0975:Ctrc
|
UTSW |
4 |
141,572,507 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation