Incidental Mutation 'IGL02139:Cast'
| ID |
281445 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cast
|
| Ensembl Gene |
ENSMUSG00000021585 |
| Gene Name |
calpastatin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74840487-74956929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74876484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 121
(D121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065629]
[ENSMUST00000220738]
[ENSMUST00000222588]
[ENSMUST00000223033]
[ENSMUST00000223126]
[ENSMUST00000223206]
[ENSMUST00000223309]
[ENSMUST00000231578]
|
| AlphaFold |
P51125 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065629
AA Change: D429G
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: D429G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calpain_inhib
|
15 |
272 |
8.1e-9 |
PFAM |
|
Pfam:Calpain_inhib
|
279 |
404 |
2.7e-36 |
PFAM |
|
Pfam:Calpain_inhib
|
415 |
544 |
3.6e-38 |
PFAM |
|
Pfam:Calpain_inhib
|
556 |
684 |
4.5e-36 |
PFAM |
|
low complexity region
|
708 |
744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220738
AA Change: D121G
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222588
AA Change: D361G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223033
AA Change: D380G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223126
AA Change: D361G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223206
AA Change: D463G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223309
AA Change: D106G
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231578
AA Change: D444G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an inhibitor of the calcium-dependent cysteine protease, calpain. This protein plays roles in multiple processes, including apoptosis, cell cycle regulation, and membrane fusion. Multiple protein isoforms exist which contain unique N-terminal domains, and multiple inhibitory domains that share homology with each other. Some isoforms may be tissue-specific. Two different pseudogenes of this gene are found on chromosome 19. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knockout allele exhibit augmented DNA fragmentation in CA1 pyramidal neurons following excitotoxic kainate treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
| Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
| Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
| Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
| Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
| Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
| Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
| Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cast |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Cast
|
APN |
13 |
74,885,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Cast
|
APN |
13 |
74,852,311 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01404:Cast
|
APN |
13 |
74,886,406 (GRCm39) |
nonsense |
probably null |
|
|
IGL01893:Cast
|
APN |
13 |
74,875,408 (GRCm39) |
nonsense |
probably null |
|
|
IGL02444:Cast
|
APN |
13 |
74,887,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Cast
|
APN |
13 |
74,885,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Cast
|
APN |
13 |
74,848,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Cast
|
UTSW |
13 |
74,884,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Cast
|
UTSW |
13 |
74,861,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2031:Cast
|
UTSW |
13 |
74,946,771 (GRCm39) |
splice site |
probably null |
|
|
R2256:Cast
|
UTSW |
13 |
74,888,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2509:Cast
|
UTSW |
13 |
74,885,735 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3923:Cast
|
UTSW |
13 |
74,876,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Cast
|
UTSW |
13 |
74,872,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4651:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4652:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4653:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4714:Cast
|
UTSW |
13 |
74,946,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Cast
|
UTSW |
13 |
74,894,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cast
|
UTSW |
13 |
74,887,999 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4974:Cast
|
UTSW |
13 |
74,955,942 (GRCm39) |
missense |
probably benign |
|
|
R5040:Cast
|
UTSW |
13 |
74,872,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Cast
|
UTSW |
13 |
74,869,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5556:Cast
|
UTSW |
13 |
74,844,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5863:Cast
|
UTSW |
13 |
74,884,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Cast
|
UTSW |
13 |
74,844,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6030:Cast
|
UTSW |
13 |
74,844,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6349:Cast
|
UTSW |
13 |
74,869,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Cast
|
UTSW |
13 |
74,847,277 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6829:Cast
|
UTSW |
13 |
74,876,463 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6848:Cast
|
UTSW |
13 |
74,844,052 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7275:Cast
|
UTSW |
13 |
74,875,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7401:Cast
|
UTSW |
13 |
74,956,577 (GRCm39) |
missense |
unknown |
|
|
R7408:Cast
|
UTSW |
13 |
74,887,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7602:Cast
|
UTSW |
13 |
74,885,084 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8032:Cast
|
UTSW |
13 |
74,883,360 (GRCm39) |
nonsense |
probably null |
|
|
R8499:Cast
|
UTSW |
13 |
74,946,835 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8544:Cast
|
UTSW |
13 |
74,882,177 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8557:Cast
|
UTSW |
13 |
74,852,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Cast
|
UTSW |
13 |
74,892,780 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0011:Cast
|
UTSW |
13 |
74,873,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Cast
|
UTSW |
13 |
74,885,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cast
|
UTSW |
13 |
74,873,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation