Incidental Mutation 'R8499:Cast'
| ID |
658433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cast
|
| Ensembl Gene |
ENSMUSG00000021585 |
| Gene Name |
calpastatin |
| Synonyms |
|
| MMRRC Submission |
067941-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8499 (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 74946835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 26
(H26Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065629]
[ENSMUST00000223206]
[ENSMUST00000231578]
|
| AlphaFold |
P51125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065629
AA Change: H11Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: H11Q
| 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: ENSMUST00000223206
AA Change: H26Q
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231578
AA Change: H26Q
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,189 (GRCm39) |
D485G |
probably damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,728,018 (GRCm39) |
R344Q |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,410,280 (GRCm39) |
P222Q |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,796 (GRCm39) |
L272P |
probably damaging |
Het |
| Atp11b |
G |
T |
3: 35,864,854 (GRCm39) |
R559I |
probably benign |
Het |
| Bhmt |
T |
A |
13: 93,756,600 (GRCm39) |
I343F |
probably benign |
Het |
| Btbd7 |
A |
T |
12: 102,754,631 (GRCm39) |
F712I |
probably damaging |
Het |
| Card14 |
T |
C |
11: 119,222,070 (GRCm39) |
L455P |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,284,133 (GRCm39) |
N567S |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,225,176 (GRCm39) |
W506R |
probably damaging |
Het |
| Dynap |
T |
A |
18: 70,374,044 (GRCm39) |
I161L |
unknown |
Het |
| Eif4g3 |
A |
C |
4: 137,893,239 (GRCm39) |
T996P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,849 (GRCm39) |
Y173H |
probably benign |
Het |
| Fbll1 |
C |
T |
11: 35,688,907 (GRCm39) |
V119M |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,068 (GRCm39) |
F249L |
probably benign |
Het |
| Fxyd1 |
C |
A |
7: 30,752,529 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
A |
4: 135,276,549 (GRCm39) |
|
probably null |
Het |
| Grk4 |
A |
G |
5: 34,902,690 (GRCm39) |
E414G |
possibly damaging |
Het |
| H2bc8 |
T |
A |
13: 23,755,880 (GRCm39) |
S92T |
probably benign |
Het |
| H2-Q5 |
A |
G |
17: 35,613,820 (GRCm39) |
D123G |
|
Het |
| H2-Q5 |
C |
T |
17: 35,613,945 (GRCm39) |
R165* |
probably null |
Het |
| Hgf |
A |
T |
5: 16,771,854 (GRCm39) |
E160D |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,086 (GRCm39) |
I192V |
probably benign |
Het |
| Klk1b22 |
T |
C |
7: 43,762,144 (GRCm39) |
F7L |
probably benign |
Het |
| Lcmt1 |
C |
A |
7: 123,029,371 (GRCm39) |
T331N |
probably benign |
Het |
| Lrrc36 |
A |
T |
8: 106,176,168 (GRCm39) |
T181S |
possibly damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,798,712 (GRCm39) |
S520T |
probably benign |
Het |
| Nacc1 |
A |
T |
8: 85,403,345 (GRCm39) |
C177S |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,342,728 (GRCm39) |
V888E |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,753,405 (GRCm39) |
G305S |
probably damaging |
Het |
| Or51a25 |
A |
G |
7: 102,372,932 (GRCm39) |
V255A |
probably damaging |
Het |
| Or52i2 |
T |
A |
7: 102,320,012 (GRCm39) |
I295N |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,764,092 (GRCm39) |
D473V |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,799,623 (GRCm39) |
G117C |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,079,366 (GRCm39) |
H68R |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,440,392 (GRCm39) |
K479E |
probably damaging |
Het |
| Qpct |
A |
G |
17: 79,384,996 (GRCm39) |
D212G |
probably damaging |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,758,469 (GRCm39) |
S444P |
probably damaging |
Het |
| Snai3 |
G |
A |
8: 123,183,144 (GRCm39) |
H134Y |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,736,044 (GRCm39) |
D395G |
probably damaging |
Het |
| Tmem63c |
C |
T |
12: 87,119,738 (GRCm39) |
T344I |
probably damaging |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,534 (GRCm39) |
Y233H |
|
Het |
| Ttn |
A |
G |
2: 76,749,335 (GRCm39) |
F3905L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,750 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,700 (GRCm39) |
C707S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,466 (GRCm39) |
S2499P |
probably damaging |
Het |
| Ythdf3 |
A |
G |
3: 16,259,179 (GRCm39) |
E442G |
possibly damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,907 (GRCm39) |
S74P |
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 |
|
|
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'- TCCCTAAATTCGCCAATTGTCAAG -3'
(R):5'- TGAGGTCCTCTGACTAATTGAGAC -3'
Sequencing Primer
(F):5'- CGCCAATTGTCAAGTAAGTATACC -3'
(R):5'- GGCAATTGTCTTAAATCACTTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation