Incidental Mutation 'R6140:Cela1'
| ID |
488551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cela1
|
| Ensembl Gene |
ENSMUSG00000023031 |
| Gene Name |
chymotrypsin-like elastase family, member 1 |
| Synonyms |
Ela1, PC-TsF, 1810062B19Rik, Ela-1, 1810009A17Rik |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6140 (G1)
|
| Quality Score |
166.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100572303-100585801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100579037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 207
(R207H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023775]
[ENSMUST00000229869]
[ENSMUST00000230572]
[ENSMUST00000230740]
[ENSMUST00000230744]
|
| AlphaFold |
Q91X79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023775
AA Change: R207H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000023775
Gene: ENSMUSG00000023031
AA Change: R207H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
26 |
259 |
1.24e-88 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229888
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230312
AA Change: R144H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230572
AA Change: R10H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230740
AA Change: R10H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230744
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
probably damaging |
Het |
|
| Other mutations in Cela1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1845:Cela1
|
UTSW |
15 |
100,583,048 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2060:Cela1
|
UTSW |
15 |
100,573,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2358:Cela1
|
UTSW |
15 |
100,579,109 (GRCm39) |
missense |
probably benign |
|
|
R3968:Cela1
|
UTSW |
15 |
100,582,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Cela1
|
UTSW |
15 |
100,580,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5491:Cela1
|
UTSW |
15 |
100,580,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Cela1
|
UTSW |
15 |
100,585,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7057:Cela1
|
UTSW |
15 |
100,580,774 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7536:Cela1
|
UTSW |
15 |
100,573,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Cela1
|
UTSW |
15 |
100,580,822 (GRCm39) |
missense |
probably benign |
|
|
R8500:Cela1
|
UTSW |
15 |
100,573,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8732:Cela1
|
UTSW |
15 |
100,580,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8843:Cela1
|
UTSW |
15 |
100,580,821 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9131:Cela1
|
UTSW |
15 |
100,579,038 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9164:Cela1
|
UTSW |
15 |
100,580,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9277:Cela1
|
UTSW |
15 |
100,580,894 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9581:Cela1
|
UTSW |
15 |
100,573,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACTCTCATGTCCCCTC -3'
(R):5'- CCATGACCTGCAACAAGCTG -3'
Sequencing Primer
(F):5'- CCCACTTGGAGGTTCTGTGATAGAG -3'
(R):5'- CCACATTCAGGTCAGGAGATCTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation