Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Capn11'

199683

Institutional Source

Beutler Lab

Gene Symbol

Capn11

Ensembl Gene

ENSMUSG00000058626

Gene Name

calpain 11

Synonyms

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45630204-45659325 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45632401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 616 (K616*)

Ref Sequence

ENSEMBL: ENSMUSP00000113132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120717]

AlphaFold

Q6J756

Predicted Effect

probably null
Transcript: ENSMUST00000120717
AA Change: K616*

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: K616*

Domain	Start	End	E-Value	Type
CysPc	37	362	2.75e-157	SMART
calpain_III	366	523	2.57e-84	SMART
EFh	590	618	3.91e-4	SMART
EFh	620	648	6.88e-1	SMART

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	C	9: 8,027,265	S91A	probably benign	Het
Acot5	A	T	12: 84,075,487	I282F	probably benign	Het
Adam19	C	A	11: 46,138,917	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,487,947	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,487,208	D316G	probably benign	Het
Ap3b1	G	A	13: 94,493,717	V827I	unknown	Het
Aph1a	T	A	3: 95,895,509	D140E	probably damaging	Het
Arhgef19	G	T	4: 141,249,618	V502L	possibly damaging	Het
Arl9	T	C	5: 77,006,626	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,363,940		probably benign	Het
B4galnt2	A	G	11: 95,890,983	F119L	probably damaging	Het
Bcap29	T	A	12: 31,630,840	N49I	probably damaging	Het
C77080	G	T	4: 129,223,577	S476R	probably damaging	Het
Cdh12	T	A	15: 21,520,366	Y306N	probably damaging	Het
Cep350	T	A	1: 155,953,214	N315Y	probably damaging	Het
Cited2	C	A	10: 17,724,046	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,089,789	D2930E	probably benign	Het
Cog3	T	A	14: 75,729,321	K470*	probably null	Het
Commd10	A	G	18: 46,990,485	T136A	probably benign	Het
Csf2ra	C	A	19: 61,226,344	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,932,610	I2686F	probably damaging	Het
Dhx29	T	C	13: 112,945,086	S415P	probably benign	Het
Dsel	A	T	1: 111,860,915	F630Y	probably damaging	Het
Ell	T	A	8: 70,578,940	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,088,303	I358L	probably benign	Het
Fam162b	A	G	10: 51,587,211	I120T	probably damaging	Het
Fam187a	T	C	11: 102,885,780	Y137H	probably damaging	Het
Fastk	T	C	5: 24,441,803	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,907,332	V409F	probably benign	Het
Flot2	G	T	11: 78,058,005	A269S	probably benign	Het
Gpd2	T	A	2: 57,355,551	N419K	probably damaging	Het
Hecw1	A	T	13: 14,377,765	M61K	probably null	Het
Htr2a	T	C	14: 74,706,128	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,350,965	T125A	probably benign	Het
Klhl40	T	C	9: 121,779,938	S390P	probably benign	Het
Lonp1	G	A	17: 56,614,956	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,404,889	D1342A	probably damaging	Het
Lrat	T	C	3: 82,897,110	I187V	probably benign	Het
Lrif1	T	C	3: 106,735,846	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,011,988	F48S	probably benign	Het
Mafg	A	G	11: 120,629,678	M32T	possibly damaging	Het
Map4	C	T	9: 110,034,955	T416I	probably benign	Het
N4bp2	T	C	5: 65,808,316	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,083,834	D414G	probably damaging	Het
Nrip2	T	G	6: 128,405,074	V50G	probably damaging	Het
Olfr1449	T	A	19: 12,934,843	I35N	probably damaging	Het
Olfr16	A	G	1: 172,956,807	N4S	probably benign	Het
Olfr432	A	T	1: 174,050,799	K142I	probably benign	Het
Olfr608	T	A	7: 103,470,146	F36I	possibly damaging	Het
Pcdhb18	A	T	18: 37,490,769	H384L	probably benign	Het
Pik3r1	A	T	13: 101,686,374	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,232,477	T168I	probably damaging	Het
Polr2a	A	G	11: 69,742,396	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,495	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,342,039	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,444,540	R470G	probably damaging	Het
Rasal2	T	C	1: 157,174,160	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 78,506,082	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,884,585	Y306C	probably benign	Het
Rtn3	T	C	19: 7,457,911	I220V	probably damaging	Het
Scn8a	A	G	15: 101,015,861	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,607,437	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,000,652	I690T	probably damaging	Het
Sharpin	T	C	15: 76,347,936	K240R	probably benign	Het
Skint5	A	G	4: 113,563,459	I1108T	unknown	Het
Snip1	A	G	4: 125,071,201	D133G	probably benign	Het
St3gal3	T	C	4: 118,014,774	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,715,481	V112A	probably benign	Het
Tnxb	C	T	17: 34,717,970	P3718S	probably damaging	Het
Ttc24	A	T	3: 88,073,094		probably null	Het
Ubr3	A	T	2: 70,009,129	E1529V	probably damaging	Het
Utrn	T	A	10: 12,710,138	H965L	probably benign	Het
Xrn2	T	A	2: 147,061,423	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,990,682	I401T	probably benign	Het
Zc3h14	C	T	12: 98,758,580	P167L	probably damaging	Het
Zfp609	G	T	9: 65,703,092	S863*	probably null	Het

Other mutations in Capn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Capn11	APN	17	45643767	missense	probably damaging	1.00
IGL01116:Capn11	APN	17	45638880	unclassified	probably benign
IGL01121:Capn11	APN	17	45639132	missense	probably benign	0.04
IGL01366:Capn11	APN	17	45653200	missense	probably damaging	1.00
IGL01533:Capn11	APN	17	45632904	missense	probably benign
IGL01595:Capn11	APN	17	45639434	missense	probably benign	0.02
IGL02197:Capn11	APN	17	45639856	missense	probably benign	0.14
IGL02683:Capn11	APN	17	45653591	missense	probably damaging	1.00
IGL02696:Capn11	APN	17	45632709	missense	probably damaging	1.00
IGL02711:Capn11	APN	17	45632415	missense	probably damaging	1.00
IGL02900:Capn11	APN	17	45630614	splice site	probably null
IGL03033:Capn11	APN	17	45642547	missense	probably damaging	1.00
R0883:Capn11	UTSW	17	45638881	unclassified	probably benign
R1494:Capn11	UTSW	17	45643809	missense	probably damaging	1.00
R1785:Capn11	UTSW	17	45638697	missense	probably benign	0.02
R1952:Capn11	UTSW	17	45642959	missense	probably damaging	1.00
R2149:Capn11	UTSW	17	45633107	critical splice acceptor site	probably null
R2397:Capn11	UTSW	17	45653221	missense	probably damaging	1.00
R2495:Capn11	UTSW	17	45638763	missense	probably damaging	0.97
R2516:Capn11	UTSW	17	45633799	missense	probably damaging	0.98
R3934:Capn11	UTSW	17	45634287	splice site	probably benign
R4016:Capn11	UTSW	17	45653756	missense	probably damaging	1.00
R4226:Capn11	UTSW	17	45642466	critical splice donor site	probably null
R4227:Capn11	UTSW	17	45642466	critical splice donor site	probably null
R4774:Capn11	UTSW	17	45633080	missense	probably benign	0.00
R4892:Capn11	UTSW	17	45633097	frame shift	probably null
R5244:Capn11	UTSW	17	45633892	missense	probably damaging	1.00
R5667:Capn11	UTSW	17	45639674	missense	possibly damaging	0.87
R5671:Capn11	UTSW	17	45639674	missense	possibly damaging	0.87
R5991:Capn11	UTSW	17	45659352	splice site	probably null
R6180:Capn11	UTSW	17	45630766	missense	probably damaging	1.00
R6193:Capn11	UTSW	17	45653504	critical splice donor site	probably null
R6774:Capn11	UTSW	17	45657330	intron	probably benign
R7047:Capn11	UTSW	17	45638696	nonsense	probably null
R7302:Capn11	UTSW	17	45643812	missense	probably damaging	1.00
R7516:Capn11	UTSW	17	45638840	missense	possibly damaging	0.95
R7563:Capn11	UTSW	17	45633965	missense	probably damaging	0.99
R7718:Capn11	UTSW	17	45643781	missense	probably damaging	1.00
R7999:Capn11	UTSW	17	45639206	missense	probably damaging	1.00
R8058:Capn11	UTSW	17	45643755	missense	probably null	1.00
R8194:Capn11	UTSW	17	45633399	missense	probably damaging	0.96
R8737:Capn11	UTSW	17	45632875	missense	probably benign	0.01
R8989:Capn11	UTSW	17	45643857	missense	probably damaging	1.00
R9037:Capn11	UTSW	17	45639431	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTTCTAGCAAACCCTTCATGAC -3'
(R):5'- TAAATGTGAGTGTCCCACCCCTCC -3'

Sequencing Primer
(F):5'- TCATGACTATAACAGGCTATACTGG -3'
(R):5'- GGATGATCAACCTCCTGGATG -3'

Posted On

2014-05-23