Incidental Mutation 'R7602:Cast'
ID |
588082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cast
|
Ensembl Gene |
ENSMUSG00000021585 |
Gene Name |
calpastatin |
Synonyms |
|
MMRRC Submission |
045674-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7602 (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 G
at 74885084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 222
(S222P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065629]
[ENSMUST00000220738]
[ENSMUST00000222588]
[ENSMUST00000223033]
[ENSMUST00000223126]
[ENSMUST00000223206]
[ENSMUST00000223309]
[ENSMUST00000231578]
|
AlphaFold |
P51125 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065629
AA Change: S290P
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000065275 Gene: ENSMUSG00000021585 AA Change: S290P
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 |
probably benign
Transcript: ENSMUST00000220738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222588
AA Change: S222P
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223033
AA Change: S241P
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223126
AA Change: S222P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223206
AA Change: S324P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223309
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231578
AA Change: S305P
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.2710 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025G04Rik |
A |
T |
1: 151,856,266 (GRCm39) |
Y34N |
probably damaging |
Het |
A2m |
T |
C |
6: 121,618,966 (GRCm39) |
V237A |
probably damaging |
Het |
A2m |
A |
T |
6: 121,647,895 (GRCm39) |
D1129V |
possibly damaging |
Het |
Aadacl2fm3 |
T |
C |
3: 59,784,697 (GRCm39) |
I390T |
probably benign |
Het |
Abca7 |
A |
G |
10: 79,833,846 (GRCm39) |
|
probably null |
Het |
Adam34l |
C |
T |
8: 44,079,703 (GRCm39) |
G174R |
probably damaging |
Het |
Ap3m2 |
T |
C |
8: 23,282,770 (GRCm39) |
N256S |
probably benign |
Het |
Atr |
C |
T |
9: 95,789,436 (GRCm39) |
H1531Y |
possibly damaging |
Het |
Carmil3 |
C |
T |
14: 55,738,965 (GRCm39) |
A873V |
probably null |
Het |
Casp8 |
A |
C |
1: 58,872,898 (GRCm39) |
K258T |
probably benign |
Het |
Cpsf7 |
C |
T |
19: 10,512,737 (GRCm39) |
P274S |
probably damaging |
Het |
Ddx24 |
A |
T |
12: 103,382,519 (GRCm39) |
L688* |
probably null |
Het |
Ddx59 |
A |
G |
1: 136,361,559 (GRCm39) |
I475V |
probably benign |
Het |
Dhx29 |
T |
A |
13: 113,081,093 (GRCm39) |
S376T |
possibly damaging |
Het |
Dhx57 |
G |
T |
17: 80,582,290 (GRCm39) |
N438K |
probably benign |
Het |
Dlk1 |
T |
A |
12: 109,421,551 (GRCm39) |
|
probably null |
Het |
Efcab15 |
T |
C |
11: 103,091,004 (GRCm39) |
M114V |
probably benign |
Het |
Epha6 |
T |
C |
16: 59,595,931 (GRCm39) |
D920G |
probably damaging |
Het |
Exo5 |
A |
T |
4: 120,778,818 (GRCm39) |
V349E |
probably benign |
Het |
Fam234b |
T |
C |
6: 135,202,241 (GRCm39) |
V321A |
possibly damaging |
Het |
Gbp3 |
A |
G |
3: 142,274,822 (GRCm39) |
E383G |
probably benign |
Het |
Gga2 |
T |
C |
7: 121,596,553 (GRCm39) |
N408S |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,296,043 (GRCm39) |
V532A |
unknown |
Het |
Hnrnpul2 |
T |
C |
19: 8,808,673 (GRCm39) |
Y712H |
probably damaging |
Het |
Hpca |
T |
C |
4: 129,014,019 (GRCm39) |
|
probably benign |
Het |
Ifitm3 |
A |
G |
7: 140,590,372 (GRCm39) |
F63L |
probably damaging |
Het |
Inava |
G |
T |
1: 136,153,135 (GRCm39) |
C252* |
probably null |
Het |
Kank1 |
A |
T |
19: 25,399,525 (GRCm39) |
T940S |
probably benign |
Het |
Klhl9 |
C |
A |
4: 88,640,646 (GRCm39) |
|
probably benign |
Het |
Krt36 |
T |
C |
11: 99,993,786 (GRCm39) |
M351V |
probably benign |
Het |
Mthfd2 |
T |
C |
6: 83,288,830 (GRCm39) |
N125D |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Ncoa2 |
A |
G |
1: 13,247,350 (GRCm39) |
S358P |
possibly damaging |
Het |
Nmnat1 |
T |
C |
4: 149,557,808 (GRCm39) |
H78R |
probably benign |
Het |
Or10s1 |
T |
G |
9: 39,986,455 (GRCm39) |
L288R |
probably damaging |
Het |
Or5k1 |
T |
C |
16: 58,617,343 (GRCm39) |
I289V |
possibly damaging |
Het |
Or5m13b |
A |
T |
2: 85,754,146 (GRCm39) |
Y178F |
probably damaging |
Het |
Or9r3 |
A |
G |
10: 129,948,179 (GRCm39) |
M160T |
probably benign |
Het |
Pabpc4 |
A |
T |
4: 123,186,685 (GRCm39) |
D302V |
possibly damaging |
Het |
Pgap1 |
A |
T |
1: 54,582,345 (GRCm39) |
S167R |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,914,109 (GRCm39) |
L517P |
probably benign |
Het |
Rcan2 |
A |
G |
17: 44,328,689 (GRCm39) |
D86G |
probably benign |
Het |
Ryk |
T |
C |
9: 102,775,715 (GRCm39) |
Y442H |
probably damaging |
Het |
Scfd2 |
G |
T |
5: 74,623,271 (GRCm39) |
Q421K |
probably benign |
Het |
Sirpa |
G |
T |
2: 129,451,072 (GRCm39) |
V111F |
probably damaging |
Het |
Skint4 |
A |
T |
4: 111,975,468 (GRCm39) |
T143S |
possibly damaging |
Het |
Slc12a8 |
C |
A |
16: 33,445,494 (GRCm39) |
H463N |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Sptlc2 |
A |
G |
12: 87,388,463 (GRCm39) |
Y340H |
probably damaging |
Het |
Ssc5d |
T |
A |
7: 4,945,745 (GRCm39) |
W926R |
possibly damaging |
Het |
Tgfa |
A |
G |
6: 86,246,944 (GRCm39) |
E82G |
probably damaging |
Het |
Thrsp |
A |
G |
7: 97,066,514 (GRCm39) |
I66T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,681,988 (GRCm39) |
E1003G |
unknown |
Het |
Tube1 |
A |
T |
10: 39,018,262 (GRCm39) |
H113L |
probably benign |
Het |
Uri1 |
A |
G |
7: 37,681,053 (GRCm39) |
V117A |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,380,606 (GRCm39) |
C2305Y |
probably damaging |
Het |
Zbtb7a |
T |
G |
10: 80,980,010 (GRCm39) |
V68G |
probably damaging |
Het |
Zfr |
T |
A |
15: 12,159,763 (GRCm39) |
D686E |
possibly damaging |
Het |
Zscan4f |
G |
A |
7: 11,135,308 (GRCm39) |
S238N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAACTTCTGGTCACTCCTGC -3'
(R):5'- ACCACATGTAACTCCTTTGGAAG -3'
Sequencing Primer
(F):5'- CAGACTGAGCTTTGAAAATTTCCCC -3'
(R):5'- GGAGGAAAAGAACCCACCCTTTC -3'
|
Posted On |
2019-10-24 |