Mutagenetix > Incidental Mutation

Incidental Mutation 'R6349:Cast'

512463

Institutional Source

Beutler Lab

Gene Symbol

Cast

Ensembl Gene

ENSMUSG00000021585

Gene Name

calpastatin

Synonyms

MMRRC Submission

044503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74840487-74956929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74869314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 542 (E542D)

Ref Sequence

ENSEMBL: ENSMUSP00000065275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223126] [ENSMUST00000223206] [ENSMUST00000223309] [ENSMUST00000231578]

AlphaFold

P51125

Predicted Effect

probably damaging
Transcript: ENSMUST00000065629
AA Change: E542D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: E542D

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: E234D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000222588
AA Change: E474D

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223033
AA Change: E493D

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223126
AA Change: E474D

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223206
AA Change: E576D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223309
AA Change: E219D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000231578

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012A03Rik	A	G	6: 32,028,595 (GRCm39)	Y9C	probably benign	Het
4930433I11Rik	A	C	7: 40,644,196 (GRCm39)	M622L	possibly damaging	Het
Abca8b	C	T	11: 109,825,544 (GRCm39)		probably null	Het
Adam28	T	C	14: 68,870,621 (GRCm39)	I351V	probably benign	Het
Adgrd1	A	C	5: 129,219,603 (GRCm39)		probably null	Het
Ank3	T	A	10: 69,815,269 (GRCm39)	I473N	probably damaging	Het
Ankrd6	A	T	4: 32,822,231 (GRCm39)	H179Q	probably damaging	Het
Ano6	A	G	15: 95,863,903 (GRCm39)	R808G	probably damaging	Het
Anxa8	A	T	14: 33,819,850 (GRCm39)	I280F	probably damaging	Het
Asb2	C	T	12: 103,312,118 (GRCm39)	M1I	probably null	Het
Astn1	C	T	1: 158,491,691 (GRCm39)	Q1023*	probably null	Het
Ccdc162	C	T	10: 41,570,396 (GRCm39)	E30K	probably damaging	Het
Ccdc87	T	C	19: 4,891,347 (GRCm39)	V613A	probably damaging	Het
Cdk13	T	C	13: 17,926,304 (GRCm39)	N832S	probably damaging	Het
Celsr1	T	A	15: 85,915,885 (GRCm39)	N696I	probably damaging	Het
Chd3	T	C	11: 69,254,857 (GRCm39)	E161G	possibly damaging	Het
Cxcr4	C	A	1: 128,517,014 (GRCm39)	V216F	possibly damaging	Het
Cyp4a10	A	G	4: 115,382,555 (GRCm39)	I282V	probably benign	Het
Deaf1	T	C	7: 140,902,863 (GRCm39)	T154A	possibly damaging	Het
Dido1	A	T	2: 180,302,494 (GRCm39)	D1803E	probably benign	Het
Dmxl2	T	C	9: 54,327,193 (GRCm39)	D944G	possibly damaging	Het
Dnah5	G	A	15: 28,238,657 (GRCm39)	V400M	probably damaging	Het
Fbxo15	A	G	18: 84,982,267 (GRCm39)	I240V	probably benign	Het
Fcrl2	A	G	3: 87,159,803 (GRCm39)	C484R	probably damaging	Het
Fech	G	T	18: 64,603,856 (GRCm39)	Y164*	probably null	Het
Fer1l5	T	A	1: 36,450,355 (GRCm39)	W1175R	probably damaging	Het
Fgfrl1	T	C	5: 108,853,372 (GRCm39)	Y241H	probably damaging	Het
Flvcr2	T	C	12: 85,793,974 (GRCm39)	Y117H	probably benign	Het
Fsip2	T	A	2: 82,823,416 (GRCm39)	M6383K	probably benign	Het
Gcc2	T	A	10: 58,105,296 (GRCm39)	D141E	probably benign	Het
Glt1d1	A	C	5: 127,783,950 (GRCm39)	R301S	probably benign	Het
Hars1	G	C	18: 36,916,107 (GRCm39)	A16G	probably benign	Het
Hmcn2	G	T	2: 31,278,385 (GRCm39)	G1696C	probably damaging	Het
Hydin	T	A	8: 111,145,091 (GRCm39)	L814*	probably null	Het
Izumo4	T	A	10: 80,538,551 (GRCm39)	M1K	probably null	Het
Kdm5d	T	A	Y: 916,847 (GRCm39)	M414K	probably damaging	Homo
Kif21b	G	A	1: 136,086,064 (GRCm39)	V812I	probably damaging	Het
Map3k7	A	G	4: 31,988,661 (GRCm39)	D270G	possibly damaging	Het
Mical3	A	G	6: 120,936,486 (GRCm39)	S1347P	probably benign	Het
Mras	T	A	9: 99,276,669 (GRCm39)	D67V	probably damaging	Het
Mtnr1b	A	T	9: 15,774,509 (GRCm39)	Y183*	probably null	Het
Muc16	A	T	9: 18,568,625 (GRCm39)	L1298Q	unknown	Het
Myh2	A	T	11: 67,083,829 (GRCm39)	I1536F	probably benign	Het
Or7c19	T	C	8: 85,957,787 (GRCm39)	I221T	possibly damaging	Het
Osmr	G	T	15: 6,850,544 (GRCm39)	D686E	probably benign	Het
Pah	T	A	10: 87,414,831 (GRCm39)	D394E	probably benign	Het
Pla1a	T	A	16: 38,237,486 (GRCm39)	S71C	probably benign	Het
Proc	T	A	18: 32,266,486 (GRCm39)	I114L	probably benign	Het
Psd	T	G	19: 46,301,826 (GRCm39)		probably null	Het
Psmb6	C	T	11: 70,418,364 (GRCm39)	Q226*	probably null	Het
Rnpepl1	A	T	1: 92,847,563 (GRCm39)	N717Y	probably damaging	Het
Rundc1	T	C	11: 101,324,988 (GRCm39)	S565P	probably benign	Het
Serpinb5	T	A	1: 106,809,495 (GRCm39)	S300R	probably benign	Het
Serpinf2	T	C	11: 75,323,257 (GRCm39)	D483G	probably damaging	Het
Sgsm3	T	C	15: 80,892,547 (GRCm39)	I291T	probably benign	Het
Smg6	T	A	11: 74,944,600 (GRCm39)	D116E	possibly damaging	Het
Srfbp1	G	T	18: 52,622,034 (GRCm39)	S365I	probably benign	Het
Stkld1	A	G	2: 26,835,872 (GRCm39)	T236A	probably benign	Het
Susd5	T	C	9: 113,924,870 (GRCm39)	V251A	probably benign	Het
Tcf25	A	G	8: 124,118,332 (GRCm39)	Y314C	probably damaging	Het
Tmem210	A	G	2: 25,179,048 (GRCm39)	D112G	possibly damaging	Het
Tubb2b	A	G	13: 34,311,528 (GRCm39)	Y422H	probably damaging	Het
Tyw1	T	C	5: 130,305,872 (GRCm39)	S332P	possibly damaging	Het
Vmn1r29	A	C	6: 58,284,412 (GRCm39)	Q44P	probably damaging	Het
Vrtn	T	C	12: 84,695,792 (GRCm39)	S181P	probably damaging	Het
Wdr76	T	A	2: 121,364,712 (GRCm39)	Y437N	possibly damaging	Het
Zc3h18	C	A	8: 123,135,025 (GRCm39)		probably benign	Het
Zfp287	G	T	11: 62,616,168 (GRCm39)	D174E	probably damaging	Het
Zfp800	A	T	6: 28,244,601 (GRCm39)	Y121*	probably null	Het
Zfyve19	T	A	2: 119,041,078 (GRCm39)	L57Q	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GCTTAAGGGCTGCAAGAAGC -3'
(R):5'- CTTGGCTAAGGAAAGCTTATGCATG -3'

Sequencing Primer
(F):5'- CCACCGTATCACATTCTG -3'
(R):5'- GCTAAGGAAAGCTTATGCATGTAAAC -3'

Posted On

2018-04-27