Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:Clcn7'

22873

Institutional Source

Beutler Lab

Gene Symbol

Clcn7

Ensembl Gene

ENSMUSG00000036636

Gene Name

chloride channel, voltage-sensitive 7

Synonyms

ClC-7

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0153 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25352365-25381078 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 25368176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040729] [ENSMUST00000160961]

AlphaFold

O70496

Predicted Effect

probably benign
Transcript: ENSMUST00000040729

SMART Domains

Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636

Domain	Start	End	E-Value	Type
low complexity region	60	74	N/A	INTRINSIC
Pfam:Voltage_CLC	183	594	1.5e-96	PFAM
CBS	632	687	8.38e-4	SMART
CBS	742	790	1.77e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159773

SMART Domains

Protein: ENSMUSP00000125546
Gene: ENSMUSG00000036636

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	76	202	5.3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160961

SMART Domains

Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	40	54	N/A	INTRINSIC
Pfam:Voltage_CLC	163	574	1.5e-93	PFAM
CBS	612	667	8.38e-4	SMART
CBS	722	770	1.77e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162722

Predicted Effect

probably benign
Transcript: ENSMUST00000162862

SMART Domains

Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	5	307	1.3e-48	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
BC024139	T	C	15: 76,005,947 (GRCm39)	E418G	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,196,256 (GRCm39)	V497A	probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Garin5b	A	T	7: 4,773,286 (GRCm39)	L177Q	probably damaging	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Pkp3	A	G	7: 140,663,256 (GRCm39)	Y367C	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpl5	T	C	5: 108,052,623 (GRCm39)	F140L	probably benign	Het
Sec24a	A	C	11: 51,591,653 (GRCm39)	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	probably benign	Het

Other mutations in Clcn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Clcn7	APN	17	25,370,097 (GRCm39)	missense	probably damaging	1.00
IGL01735:Clcn7	APN	17	25,370,090 (GRCm39)	missense	probably benign	0.13
IGL01912:Clcn7	APN	17	25,371,983 (GRCm39)	splice site	probably benign
IGL01936:Clcn7	APN	17	25,374,350 (GRCm39)	missense	probably benign	0.44
IGL02084:Clcn7	APN	17	25,376,899 (GRCm39)	missense	probably benign
IGL02121:Clcn7	APN	17	25,372,058 (GRCm39)	missense	possibly damaging	0.95
IGL02160:Clcn7	APN	17	25,368,004 (GRCm39)	unclassified	probably benign
IGL02335:Clcn7	APN	17	25,365,821 (GRCm39)	missense	probably benign	0.00
IGL02507:Clcn7	APN	17	25,363,443 (GRCm39)	missense	probably damaging	1.00
IGL02605:Clcn7	APN	17	25,365,792 (GRCm39)	missense	possibly damaging	0.60
IGL03160:Clcn7	APN	17	25,365,427 (GRCm39)	unclassified	probably benign
IGL03192:Clcn7	APN	17	25,352,575 (GRCm39)	missense	probably benign	0.00
IGL03194:Clcn7	APN	17	25,369,522 (GRCm39)	missense	probably damaging	0.98
IGL03409:Clcn7	APN	17	25,374,359 (GRCm39)	missense	probably damaging	1.00
R0140:Clcn7	UTSW	17	25,372,728 (GRCm39)	missense	probably damaging	1.00
R0970:Clcn7	UTSW	17	25,370,208 (GRCm39)	critical splice donor site	probably null
R1644:Clcn7	UTSW	17	25,378,672 (GRCm39)	missense	probably damaging	1.00
R1856:Clcn7	UTSW	17	25,379,445 (GRCm39)	missense	probably damaging	1.00
R2145:Clcn7	UTSW	17	25,363,425 (GRCm39)	missense	probably benign
R2173:Clcn7	UTSW	17	25,364,583 (GRCm39)	missense	probably benign
R2401:Clcn7	UTSW	17	25,372,114 (GRCm39)	missense	probably benign	0.02
R2511:Clcn7	UTSW	17	25,374,420 (GRCm39)	missense	probably damaging	1.00
R3683:Clcn7	UTSW	17	25,369,567 (GRCm39)	missense	possibly damaging	0.84
R3684:Clcn7	UTSW	17	25,369,567 (GRCm39)	missense	possibly damaging	0.84
R3694:Clcn7	UTSW	17	25,378,681 (GRCm39)	missense	probably damaging	0.99
R4424:Clcn7	UTSW	17	25,379,150 (GRCm39)	missense	probably damaging	1.00
R4681:Clcn7	UTSW	17	25,376,935 (GRCm39)	missense	probably damaging	1.00
R4870:Clcn7	UTSW	17	25,372,539 (GRCm39)	intron	probably benign
R5372:Clcn7	UTSW	17	25,376,153 (GRCm39)	missense	possibly damaging	0.82
R5820:Clcn7	UTSW	17	25,368,026 (GRCm39)	missense	probably damaging	1.00
R6154:Clcn7	UTSW	17	25,376,928 (GRCm39)	missense	probably damaging	0.98
R6181:Clcn7	UTSW	17	25,370,702 (GRCm39)	missense	possibly damaging	0.79
R6306:Clcn7	UTSW	17	25,376,502 (GRCm39)	missense	probably benign	0.01
R6798:Clcn7	UTSW	17	25,378,734 (GRCm39)	missense	probably damaging	1.00
R6961:Clcn7	UTSW	17	25,376,188 (GRCm39)	missense	probably damaging	1.00
R7020:Clcn7	UTSW	17	25,365,325 (GRCm39)	missense	possibly damaging	0.76
R7089:Clcn7	UTSW	17	25,372,667 (GRCm39)	missense
R7757:Clcn7	UTSW	17	25,375,796 (GRCm39)	missense	probably damaging	1.00
R8057:Clcn7	UTSW	17	25,368,233 (GRCm39)	nonsense	probably null
R8670:Clcn7	UTSW	17	25,378,588 (GRCm39)	missense	probably damaging	0.99
R9031:Clcn7	UTSW	17	25,376,497 (GRCm39)	missense	probably damaging	0.96
R9720:Clcn7	UTSW	17	25,374,471 (GRCm39)	missense	probably damaging	1.00
X0020:Clcn7	UTSW	17	25,369,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Clcn7	UTSW	17	25,371,989 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAAGGTGTCCGGCGTGATTC -3'
(R):5'- CTGAGGAGCCATTTACAGCTCTGAC -3'

Sequencing Primer
(F):5'- CCGGCGTGATTCTGTCTG -3'
(R):5'- CCAGACTGCCCTTAGAGTTAGAG -3'

Posted On

2013-04-16