Mutagenetix > Incidental Mutations

Incidental Mutation 'R5991:Capn11'

482153

Institutional Source

Beutler Lab

Gene Symbol

Capn11

Ensembl Gene

ENSMUSG00000058626

Gene Name

calpain 11

Synonyms

MMRRC Submission

044171-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5991 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

45630204-45659325 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 45659352 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113523] [ENSMUST00000120717] [ENSMUST00000151350]

Predicted Effect

probably benign
Transcript: ENSMUST00000113523

SMART Domains

Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	82	92	N/A	INTRINSIC
Pfam:RSN1_TM	101	226	2.5e-23	PFAM
Pfam:PHM7_cyt	274	344	9.1e-10	PFAM
Pfam:RSN1_7TM	362	706	5.3e-96	PFAM
transmembrane domain	711	733	N/A	INTRINSIC
low complexity region	778	805	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120717

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129177

Predicted Effect

probably benign
Transcript: ENSMUST00000151350

SMART Domains

Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C2	94	153	1.5e-14	PFAM
low complexity region	163	174	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156224

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	G	A	8: 111,050,400	R683Q	probably damaging	Het
Adam8	T	A	7: 139,990,287	H69L	probably damaging	Het
Bbs2	G	T	8: 94,098,286	R23S	probably benign	Het
Bod1l	A	T	5: 41,816,863	C2369*	probably null	Het
Carmil2	A	G	8: 105,691,391	Q679R	probably null	Het
Cep120	T	C	18: 53,721,798	I422V	probably benign	Het
Cnot7	A	C	8: 40,495,655		probably null	Het
Col1a1	T	C	11: 94,937,919	V29A	unknown	Het
Dnttip1	A	T	2: 164,754,180	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,880,225	V497A	probably benign	Het
Ep300	A	G	15: 81,648,466	D1635G	unknown	Het
Ercc5	T	A	1: 44,180,830	C1087*	probably null	Het
Fap	A	T	2: 62,518,521	M517K	probably damaging	Het
Focad	C	A	4: 88,401,019	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,990,468	P5515L	probably benign	Het
Gm9733	G	T	3: 15,320,758	A28E	probably benign	Het
Gpr158	T	C	2: 21,368,508	Y85H	probably damaging	Het
Hc	A	G	2: 35,006,105	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,437,983	M546I	probably damaging	Het
Jup	T	C	11: 100,379,569	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,309,316	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,227,865	E83G	probably damaging	Het
Lyg2	C	T	1: 37,915,719		probably null	Het
Mtmr11	T	A	3: 96,168,589		probably null	Het
Myct1	A	T	10: 5,604,426	R98*	probably null	Het
Nol11	T	C	11: 107,171,145	T612A	probably benign	Het
Olfr1034	A	G	2: 86,046,910	I143V	probably benign	Het
Olfr1218	C	T	2: 89,054,782	V215I	probably benign	Het
Olfr1314	C	T	2: 112,092,615	V29M	probably benign	Het
Olfr167	T	C	16: 19,514,757	N293S	probably damaging	Het
Olfr32	T	A	2: 90,138,234	K302*	probably null	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,301,508	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,454,467	R212W	probably benign	Het
Plin3	T	C	17: 56,286,576	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,619,538	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Ryr1	G	T	7: 29,104,610	N584K	probably damaging	Het
Scmh1	T	C	4: 120,522,620	V544A	probably benign	Het
Sdk2	G	A	11: 113,943,254	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,259,807	L270H	probably damaging	Het
Shoc2	T	A	19: 54,003,049	N248K	probably damaging	Het
Slc25a4	T	C	8: 46,209,336	Y95C	probably damaging	Het
Slc4a1ap	A	G	5: 31,534,069	N403S	possibly damaging	Het
Spink10	T	A	18: 62,657,885	W7R	probably null	Het
Ssrp1	A	G	2: 85,042,296	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,209,069		probably benign	Het
Tead3	A	T	17: 28,334,378		probably null	Het
Timd4	A	G	11: 46,843,203	*344W	probably null	Het
Tmem181a	T	A	17: 6,289,037	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,159,655	V202L	probably damaging	Het
Vmn1r80	A	G	7: 12,193,496	T178A	probably benign	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zmym6	T	A	4: 127,108,473		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
R1735:Capn11	UTSW	17	45632401	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGTCTGATAAGAGAGACCCC -3'
(R):5'- TTGAAAGGGAGGGACTTGCC -3'

Sequencing Primer
(F):5'- ACCCCAGTCTGAGGCCTC -3'
(R):5'- GTTGGGTGCTTGTCCCCC -3'

Posted On

2017-06-27