Incidental Mutation 'R4236:Cela1'
| ID |
321148 |
| 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 |
041053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R4236 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
100572303-100585801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100580794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 91
(Y91C)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023775]
[ENSMUST00000229869]
[ENSMUST00000230572]
[ENSMUST00000230744]
[ENSMUST00000230740]
|
| AlphaFold |
Q91X79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023775
AA Change: Y154C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023775
Gene: ENSMUSG00000023031
AA Change: Y154C
| 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 |
probably damaging
Transcript: ENSMUST00000230312
AA Change: Y91C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230740
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (49/51) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Chrnb3 |
C |
A |
8: 27,884,021 (GRCm39) |
L253M |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
| Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,643,129 (GRCm39) |
T460A |
probably benign |
Het |
| Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
| Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,803 (GRCm39) |
V99A |
probably benign |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
R5491:Cela1
|
UTSW |
15 |
100,580,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Cela1
|
UTSW |
15 |
100,579,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TGATCTTTGGTTCCCTAGGTCATAG -3'
(R):5'- GCACATCTAATGTCCAGCAGC -3'
Sequencing Primer
(F):5'- CTAGGTCATAGGTCTCAGGCTATAC -3'
(R):5'- CATCATATTGCCTAGAGCTGGAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation