Incidental Mutation 'IGL02941:Cast'
| ID |
364502 |
| 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 # |
IGL02941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74840487-74956929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74848806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 727
(D727E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065629]
[ENSMUST00000220738]
[ENSMUST00000222588]
[ENSMUST00000223033]
[ENSMUST00000223126]
[ENSMUST00000223206]
[ENSMUST00000223309]
|
| AlphaFold |
P51125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065629
AA Change: D693E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: D693E
| 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: D384E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221873
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222588
AA Change: D625E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223033
AA Change: D643E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223126
AA Change: D613E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223206
AA Change: D727E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223309
AA Change: D370E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
G |
A |
7: 50,249,284 (GRCm39) |
R106Q |
probably damaging |
Het |
| Amhr2 |
T |
C |
15: 102,355,724 (GRCm39) |
V223A |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,943,835 (GRCm39) |
H1101L |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,367,681 (GRCm39) |
|
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,963,640 (GRCm39) |
V85I |
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,025,151 (GRCm39) |
R217W |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col5a3 |
A |
G |
9: 20,715,962 (GRCm39) |
S360P |
unknown |
Het |
| Cyp4f16 |
T |
C |
17: 32,756,061 (GRCm39) |
I30T |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,552,361 (GRCm39) |
F267L |
probably benign |
Het |
| Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
| Gm4953 |
C |
T |
1: 158,995,963 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9242 |
T |
C |
16: 97,292,279 (GRCm39) |
|
probably benign |
Het |
| Gsr |
G |
A |
8: 34,179,453 (GRCm39) |
V354I |
probably damaging |
Het |
| H2bc21 |
A |
G |
3: 96,128,732 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,311 (GRCm39) |
D96V |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,711 (GRCm39) |
Y492C |
probably damaging |
Het |
| Itgb5 |
T |
G |
16: 33,764,465 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,288,650 (GRCm39) |
L832R |
probably damaging |
Het |
| Ms4a6c |
A |
G |
19: 11,448,466 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,515,811 (GRCm39) |
S1227G |
probably damaging |
Het |
| Or1j11 |
T |
C |
2: 36,312,132 (GRCm39) |
C241R |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,680 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or52r1c |
A |
G |
7: 102,735,528 (GRCm39) |
T263A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,685,747 (GRCm39) |
Y738C |
probably damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,424,865 (GRCm39) |
C1646F |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,720,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polrmt |
A |
T |
10: 79,573,092 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
G |
T |
4: 86,363,821 (GRCm39) |
R221S |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,077,022 (GRCm39) |
I93V |
probably benign |
Het |
| St8sia2 |
T |
A |
7: 73,626,397 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,494 (GRCm39) |
N265K |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,954 (GRCm39) |
Y305N |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,764,605 (GRCm39) |
T325A |
probably damaging |
Het |
| Vill |
G |
A |
9: 118,895,955 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,077,507 (GRCm39) |
D1060G |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,868,444 (GRCm39) |
F166I |
probably damaging |
Het |
| Zc3h7a |
T |
G |
16: 10,976,458 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
G |
A |
7: 48,466,886 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,320,944 (GRCm39) |
N724K |
possibly damaging |
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 |
|
|
IGL02139:Cast
|
APN |
13 |
74,876,484 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation