Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Capn13'

92259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Capn13

Ensembl Gene

ENSMUSG00000043705

Gene Name

calpain 13

Synonyms

LOC381122

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

73306464-73399296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73331058 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 450 (T450N)

Ref Sequence

ENSEMBL: ENSMUSP00000092832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095208]

Predicted Effect

probably benign
Transcript: ENSMUST00000095208
AA Change: T450N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: T450N

Domain	Start	End	E-Value	Type
CysPc	12	337	3.23e-113	SMART
Pfam:Calpain_III	341	473	2e-13	PFAM
SCOP:d1k94a_	512	664	3e-8	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Capn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Capn13	APN	17	73339425	missense	possibly damaging	0.82
IGL01099:Capn13	APN	17	73351509	missense	probably damaging	0.99
IGL02215:Capn13	APN	17	73330998	missense	probably damaging	1.00
IGL02403:Capn13	APN	17	73351426	missense	possibly damaging	0.82
IGL02877:Capn13	APN	17	73322055	missense	probably damaging	0.97
IGL03113:Capn13	APN	17	73331113	missense	probably benign	0.00
IGL03246:Capn13	APN	17	73382860	missense	probably benign
IGL03369:Capn13	APN	17	73341154	splice site	probably benign
R0116:Capn13	UTSW	17	73351524	missense	probably damaging	1.00
R0729:Capn13	UTSW	17	73322069	missense	probably damaging	1.00
R0745:Capn13	UTSW	17	73351508	missense	probably benign	0.39
R0746:Capn13	UTSW	17	73351508	missense	probably benign	0.39
R0778:Capn13	UTSW	17	73351508	missense	probably benign	0.39
R1252:Capn13	UTSW	17	73367227	missense	possibly damaging	0.80
R1594:Capn13	UTSW	17	73351479	missense	probably benign	0.15
R1641:Capn13	UTSW	17	73382894	missense	possibly damaging	0.91
R1895:Capn13	UTSW	17	73350525	missense	possibly damaging	0.50
R1902:Capn13	UTSW	17	73326361	missense	probably damaging	1.00
R1946:Capn13	UTSW	17	73350525	missense	possibly damaging	0.50
R2184:Capn13	UTSW	17	73365948	missense	probably damaging	1.00
R2427:Capn13	UTSW	17	73326317	splice site	probably benign
R2963:Capn13	UTSW	17	73315263	critical splice donor site	probably null
R3755:Capn13	UTSW	17	73331119	nonsense	probably null
R3759:Capn13	UTSW	17	73322077	missense	probably benign	0.01
R3795:Capn13	UTSW	17	73337392	missense	probably benign	0.14
R3801:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R3802:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R3803:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R3804:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R4084:Capn13	UTSW	17	73337449	missense	probably benign	0.00
R4194:Capn13	UTSW	17	73339484	missense	possibly damaging	0.48
R4326:Capn13	UTSW	17	73331108	missense	probably benign
R4788:Capn13	UTSW	17	73337432	nonsense	probably null
R4852:Capn13	UTSW	17	73351506	frame shift	probably null
R4853:Capn13	UTSW	17	73351506	frame shift	probably null
R4855:Capn13	UTSW	17	73351506	frame shift	probably null
R5063:Capn13	UTSW	17	73322079	nonsense	probably null
R5112:Capn13	UTSW	17	73351506	frame shift	probably null
R5438:Capn13	UTSW	17	73326484	missense	probably benign
R5955:Capn13	UTSW	17	73331002	missense	possibly damaging	0.92
R6408:Capn13	UTSW	17	73365959	nonsense	probably null
R6512:Capn13	UTSW	17	73382990	missense	probably benign	0.44
R7425:Capn13	UTSW	17	73318058	missense	probably benign	0.13
R7605:Capn13	UTSW	17	73345137	critical splice donor site	probably null
R7678:Capn13	UTSW	17	73315305	missense	probably damaging	1.00
R7776:Capn13	UTSW	17	73322054	missense	probably benign	0.07
R7791:Capn13	UTSW	17	73382888	missense	possibly damaging	0.88
Z1176:Capn13	UTSW	17	73341110	missense	probably benign	0.00

Posted On

2013-12-09