Incidental Mutation 'R8557:Cast'
| ID |
660179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cast
|
| Ensembl Gene |
ENSMUSG00000021585 |
| Gene Name |
calpastatin |
| Synonyms |
|
| MMRRC Submission |
068520-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74840487-74956929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74852301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 647
(D647E)
|
| 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: D613E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: D613E
| 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: D304E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222588
AA Change: D545E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223033
AA Change: D563E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223126
AA Change: D545E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223206
AA Change: D647E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223309
AA Change: D290E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
C |
5: 64,055,954 (GRCm39) |
V230A |
probably benign |
Het |
| Ablim2 |
A |
T |
5: 35,985,483 (GRCm39) |
H260L |
probably damaging |
Het |
| Acp4 |
C |
T |
7: 43,905,272 (GRCm39) |
|
probably null |
Het |
| Acvr2b |
G |
T |
9: 119,261,654 (GRCm39) |
V416L |
probably damaging |
Het |
| Adipoq |
A |
T |
16: 22,965,430 (GRCm39) |
|
probably benign |
Het |
| Amhr2 |
A |
G |
15: 102,362,847 (GRCm39) |
Q538R |
probably benign |
Het |
| Apoh |
C |
T |
11: 108,300,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,384,494 (GRCm39) |
T97I |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,939,863 (GRCm39) |
H499Q |
probably benign |
Het |
| Bicdl2 |
G |
A |
17: 23,886,536 (GRCm39) |
R375H |
probably benign |
Het |
| C3 |
T |
C |
17: 57,531,383 (GRCm39) |
T304A |
probably benign |
Het |
| Chrm2 |
T |
C |
6: 36,501,010 (GRCm39) |
V289A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,377,217 (GRCm39) |
D694G |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,427,438 (GRCm39) |
R215C |
possibly damaging |
Het |
| Dctn2 |
T |
C |
10: 127,114,062 (GRCm39) |
L334P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,842,247 (GRCm39) |
I4444T |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,600 (GRCm39) |
R5L |
unknown |
Het |
| Ercc1 |
A |
G |
7: 19,082,480 (GRCm39) |
N11S |
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,472,520 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,706,610 (GRCm39) |
V958A |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,918,132 (GRCm39) |
K140R |
probably benign |
Het |
| Gfra2 |
G |
A |
14: 71,214,737 (GRCm39) |
M163I |
probably benign |
Het |
| Gm14403 |
T |
C |
2: 177,201,354 (GRCm39) |
I191T |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,341,219 (GRCm39) |
E977D |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,714 (GRCm39) |
N354S |
possibly damaging |
Het |
| Hpgds |
A |
T |
6: 65,096,999 (GRCm39) |
I170N |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,296,379 (GRCm39) |
V356A |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,893,370 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
C |
T |
1: 162,371,921 (GRCm39) |
G316D |
possibly damaging |
Het |
| Mia2 |
T |
A |
12: 59,148,274 (GRCm39) |
L45I |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,543 (GRCm39) |
|
probably null |
Het |
| Mob3a |
G |
T |
10: 80,527,008 (GRCm39) |
R106S |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,040,660 (GRCm39) |
F737I |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,703,081 (GRCm39) |
A2053T |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,246,252 (GRCm39) |
S127G |
probably benign |
Het |
| Naaladl2 |
T |
A |
3: 24,262,528 (GRCm39) |
K395I |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,336,986 (GRCm39) |
M678L |
probably benign |
Het |
| Nefh |
A |
T |
11: 4,891,233 (GRCm39) |
I462N |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,025 (GRCm39) |
M322T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,562 (GRCm39) |
D71V |
probably damaging |
Het |
| Or56b1 |
T |
A |
7: 104,285,103 (GRCm39) |
V74E |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,528,495 (GRCm39) |
N288S |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,444,725 (GRCm39) |
C2257Y |
probably damaging |
Het |
| Sec23a |
G |
T |
12: 59,052,056 (GRCm39) |
Q90K |
probably damaging |
Het |
| Shisal2a |
T |
A |
4: 108,225,085 (GRCm39) |
N159I |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,712,685 (GRCm39) |
T61A |
possibly damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,141,385 (GRCm39) |
A234S |
probably damaging |
Het |
| Smg6 |
C |
A |
11: 75,047,064 (GRCm39) |
N1252K |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,227 (GRCm39) |
D197E |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,842,761 (GRCm39) |
F59L |
probably damaging |
Het |
| Tectb |
T |
A |
19: 55,181,105 (GRCm39) |
|
probably benign |
Het |
| Tnnc1 |
G |
A |
14: 30,932,562 (GRCm39) |
V82I |
probably damaging |
Het |
| Traf7 |
A |
T |
17: 24,729,015 (GRCm39) |
V513D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,399,908 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,790,910 (GRCm39) |
Y129* |
probably null |
Het |
| Vrtn |
T |
A |
12: 84,696,690 (GRCm39) |
F480Y |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,246,649 (GRCm39) |
I664F |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,193,136 (GRCm39) |
V401E |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,180,835 (GRCm39) |
N231I |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGTGCAATGGAATCTGTTC -3'
(R):5'- TTTCCCTGTCAGCACATCAG -3'
Sequencing Primer
(F):5'- CTGAAACAAGAAAATGAGATGGAGC -3'
(R):5'- CACATCAGTTTTCCAATACTGACTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation