Incidental Mutation 'IGL02444:Cast'
ID |
293522 |
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 # |
IGL02444
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
74840487-74956929 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74887972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 240
(T240I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065629]
[ENSMUST00000222588]
[ENSMUST00000223033]
[ENSMUST00000223126]
[ENSMUST00000223206]
[ENSMUST00000231578]
|
AlphaFold |
P51125 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065629
AA Change: T225I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065275 Gene: ENSMUSG00000021585 AA Change: T225I
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 |
noncoding transcript
Transcript: ENSMUST00000222373
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222588
AA Change: T157I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223033
AA Change: T176I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223126
AA Change: T157I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223206
AA Change: T259I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231578
AA Change: T240I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,022,710 (GRCm39) |
I260T |
possibly damaging |
Het |
Arhgap9 |
T |
A |
10: 127,163,816 (GRCm39) |
V484D |
probably damaging |
Het |
Asph |
A |
G |
4: 9,542,319 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,555,083 (GRCm39) |
S457P |
probably damaging |
Het |
Bckdk |
A |
G |
7: 127,506,618 (GRCm39) |
T38A |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,413,542 (GRCm39) |
|
probably benign |
Het |
Cdon |
T |
C |
9: 35,384,744 (GRCm39) |
S677P |
probably benign |
Het |
Cfap161 |
T |
C |
7: 83,425,353 (GRCm39) |
E246G |
probably damaging |
Het |
Dnah11 |
G |
A |
12: 117,939,608 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,444 (GRCm39) |
V835I |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,762,045 (GRCm39) |
H510R |
possibly damaging |
Het |
Fbxw2 |
G |
T |
2: 34,695,793 (GRCm39) |
T367K |
probably benign |
Het |
Ghsr |
T |
C |
3: 27,426,189 (GRCm39) |
S82P |
probably benign |
Het |
Gm4353 |
C |
T |
7: 115,682,679 (GRCm39) |
V301I |
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,728,178 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
A |
3: 80,609,860 (GRCm39) |
M650L |
possibly damaging |
Het |
Herc4 |
T |
C |
10: 63,142,212 (GRCm39) |
V671A |
probably benign |
Het |
Iqcb1 |
T |
A |
16: 36,652,273 (GRCm39) |
Y61* |
probably null |
Het |
Irs2 |
C |
T |
8: 11,056,306 (GRCm39) |
G709S |
probably benign |
Het |
Itpripl1 |
T |
G |
2: 126,983,621 (GRCm39) |
H167P |
possibly damaging |
Het |
Kcnn3 |
T |
C |
3: 89,559,359 (GRCm39) |
V543A |
possibly damaging |
Het |
Klf10 |
T |
A |
15: 38,298,068 (GRCm39) |
K43M |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,547,450 (GRCm39) |
R345C |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,791,832 (GRCm39) |
S304P |
probably damaging |
Het |
Lpar3 |
T |
C |
3: 145,946,949 (GRCm39) |
I209T |
probably damaging |
Het |
Map3k13 |
T |
A |
16: 21,732,982 (GRCm39) |
M528K |
probably benign |
Het |
Me1 |
A |
T |
9: 86,464,967 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
T |
G |
18: 65,337,028 (GRCm39) |
|
probably benign |
Het |
Oas1d |
T |
A |
5: 121,058,071 (GRCm39) |
F338L |
probably benign |
Het |
Or1b1 |
G |
T |
2: 36,994,786 (GRCm39) |
P292Q |
probably damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,551 (GRCm39) |
F238S |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,454,103 (GRCm39) |
V161A |
probably benign |
Het |
Prdx3 |
A |
T |
19: 60,859,899 (GRCm39) |
F91L |
possibly damaging |
Het |
Rab25 |
T |
C |
3: 88,450,020 (GRCm39) |
T114A |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,126,765 (GRCm39) |
E73G |
probably benign |
Het |
Slco4c1 |
A |
G |
1: 96,772,234 (GRCm39) |
S252P |
probably damaging |
Het |
Srgap2 |
A |
C |
1: 131,252,891 (GRCm39) |
|
probably null |
Het |
Synpo |
A |
G |
18: 60,735,502 (GRCm39) |
S576P |
probably damaging |
Het |
Tktl2 |
G |
T |
8: 66,966,013 (GRCm39) |
A524S |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,165,874 (GRCm39) |
|
probably benign |
Het |
Tmem52 |
G |
A |
4: 155,554,850 (GRCm39) |
D158N |
probably damaging |
Het |
Tyw3 |
T |
A |
3: 154,302,626 (GRCm39) |
Q36L |
probably damaging |
Het |
Usp10 |
A |
T |
8: 120,675,432 (GRCm39) |
I483F |
possibly damaging |
Het |
Usp31 |
A |
G |
7: 121,278,718 (GRCm39) |
Y216H |
probably damaging |
Het |
Vmn1r181 |
T |
C |
7: 23,683,948 (GRCm39) |
S138P |
probably damaging |
Het |
Vmn2r42 |
G |
T |
7: 8,187,312 (GRCm39) |
A770E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,810 (GRCm39) |
S1411R |
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 |
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 |