Incidental Mutation 'R7275:Cast'
| ID |
565532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cast
|
| Ensembl Gene |
ENSMUSG00000021585 |
| Gene Name |
calpastatin |
| Synonyms |
|
| MMRRC Submission |
045358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74840487-74956929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74875453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 382
(T382A)
|
| 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: T450A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: T450A
| 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
AA Change: T142A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222588
AA Change: T382A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223033
AA Change: T401A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223126
AA Change: T382A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223206
AA Change: T484A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223309
AA Change: T127A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231578
AA Change: T465A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
A |
12: 72,956,795 (GRCm39) |
T132S |
possibly damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,887,738 (GRCm39) |
V234A |
probably benign |
Het |
| Abtb3 |
T |
A |
10: 85,490,346 (GRCm39) |
L1004Q |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,136,511 (GRCm39) |
T361A |
possibly damaging |
Het |
| Agxt2 |
G |
A |
15: 10,358,753 (GRCm39) |
R24H |
probably benign |
Het |
| Asb16 |
G |
T |
11: 102,159,935 (GRCm39) |
W96L |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,607,969 (GRCm39) |
T486S |
probably benign |
Het |
| Bpnt2 |
C |
A |
4: 4,792,962 (GRCm39) |
G48W |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,014,119 (GRCm39) |
K218N |
possibly damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,291,308 (GRCm39) |
G250D |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,994,108 (GRCm39) |
V52E |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,855 (GRCm39) |
I834T |
possibly damaging |
Het |
| Cyp11b2 |
C |
A |
15: 74,725,840 (GRCm39) |
G136W |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,324,925 (GRCm39) |
V502A |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,648,054 (GRCm39) |
M610K |
unknown |
Het |
| Drosha |
G |
A |
15: 12,846,169 (GRCm39) |
V435I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,184,236 (GRCm39) |
R51* |
probably null |
Het |
| Ergic2 |
A |
T |
6: 148,096,757 (GRCm39) |
C170S |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,195,688 (GRCm39) |
|
probably null |
Het |
| Fbxw25 |
G |
T |
9: 109,483,660 (GRCm39) |
A184E |
|
Het |
| Gm4846 |
T |
A |
1: 166,314,648 (GRCm39) |
T332S |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,709,708 (GRCm39) |
N871S |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,109 (GRCm39) |
L145P |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,298,104 (GRCm39) |
S166P |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,703,333 (GRCm39) |
L676H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,289,875 (GRCm39) |
K3655* |
probably null |
Het |
| Lrrc74a |
A |
G |
12: 86,787,753 (GRCm39) |
N128S |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,848 (GRCm39) |
E648G |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,269,489 (GRCm39) |
D200E |
probably benign |
Het |
| Mttp |
T |
C |
3: 137,829,546 (GRCm39) |
D114G |
probably benign |
Het |
| Mup13 |
G |
A |
4: 61,182,752 (GRCm39) |
T101M |
probably benign |
Het |
| Neb |
T |
A |
2: 52,096,956 (GRCm39) |
T4953S |
probably benign |
Het |
| Nfasc |
A |
C |
1: 132,562,001 (GRCm39) |
L147R |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,805 (GRCm39) |
E214G |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,493,039 (GRCm39) |
N175S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,342,851 (GRCm39) |
M85L |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,815 (GRCm39) |
|
probably benign |
Het |
| Or8k22 |
C |
A |
2: 86,163,136 (GRCm39) |
C188F |
possibly damaging |
Het |
| Osbpl3 |
G |
T |
6: 50,323,410 (GRCm39) |
D224E |
probably benign |
Het |
| Osr2 |
A |
G |
15: 35,301,032 (GRCm39) |
D196G |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,442 (GRCm39) |
N405Y |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,719,177 (GRCm39) |
S571P |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,886,275 (GRCm39) |
I163N |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,038,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,971,684 (GRCm39) |
D208G |
probably benign |
Het |
| Rgsl1 |
T |
G |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,076,581 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
T |
C |
13: 73,834,197 (GRCm39) |
D335G |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,799,497 (GRCm39) |
T113M |
probably benign |
Het |
| Speer1c |
T |
C |
5: 10,295,192 (GRCm39) |
N71D |
|
Het |
| Stxbp6 |
A |
G |
12: 44,948,786 (GRCm39) |
F108L |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,921,189 (GRCm39) |
|
probably null |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,029,618 (GRCm39) |
D326E |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,839 (GRCm39) |
S86G |
probably benign |
Het |
| Trgv3 |
A |
G |
13: 19,427,188 (GRCm39) |
T24A |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,956,048 (GRCm39) |
M1170K |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,987,146 (GRCm39) |
Q1276* |
probably null |
Het |
| Tyrp1 |
A |
G |
4: 80,755,821 (GRCm39) |
K197E |
possibly damaging |
Het |
| Ube3d |
T |
C |
9: 86,322,679 (GRCm39) |
D165G |
probably damaging |
Het |
| Zfp212 |
A |
G |
6: 47,897,678 (GRCm39) |
T7A |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,758 (GRCm39) |
T163A |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,734,576 (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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGCACAGCACTGAAGC -3'
(R):5'- GTTCCAATTACAGTCACTGAAAGG -3'
Sequencing Primer
(F):5'- GCACTGAAGCCCAAAGAACAATG -3'
(R):5'- AATATGTCTTGGCATGAATATTGCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation