Incidental Mutation 'IGL02353:Casp6'
| ID |
289572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Casp6
|
| Ensembl Gene |
ENSMUSG00000027997 |
| Gene Name |
caspase 6 |
| Synonyms |
Mch2, mCASP-6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
129695074-129707752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129704175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 87
(S87L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029624]
[ENSMUST00000029626]
[ENSMUST00000153506]
|
| AlphaFold |
O08738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029624
|
| SMART Domains |
Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCU
|
109 |
314 |
4.4e-68 |
PFAM |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029626
AA Change: S87L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997
AA Change: S87L
| Domain | Start | End | E-Value | Type |
|---|
|
CASc
|
19 |
272 |
6.84e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153506
|
| SMART Domains |
Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
202 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cysteine proteases that plays important roles in regulating apoptosis and neurodegeneration. The encoded protein is involved in the transmission of pain and axonal degeneration. Genetic deletion of this gene in mice results in the delay of axon pruning and protects from axon degeneration. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure to induce increased lysis of fluorogenic substrate VEID-AMC in staurosporine treated of lenses. Mice homozygous for a different knock-out allele exhibit resistance to excitotoxicity and axonal degeneration. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(5) Gene trapped(1)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,974,312 (GRCm39) |
R94Q |
probably damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
possibly damaging |
Het |
|
| Other mutations in Casp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02360:Casp6
|
APN |
3 |
129,704,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Casp6
|
UTSW |
3 |
129,705,792 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0233:Casp6
|
UTSW |
3 |
129,699,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Casp6
|
UTSW |
3 |
129,699,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Casp6
|
UTSW |
3 |
129,704,172 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4167:Casp6
|
UTSW |
3 |
129,706,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Casp6
|
UTSW |
3 |
129,704,204 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6662:Casp6
|
UTSW |
3 |
129,705,875 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7605:Casp6
|
UTSW |
3 |
129,705,812 (GRCm39) |
missense |
probably benign |
|
|
R7653:Casp6
|
UTSW |
3 |
129,705,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7750:Casp6
|
UTSW |
3 |
129,705,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Casp6
|
UTSW |
3 |
129,699,559 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation