Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Clca3a1'

253763

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

040420-MU

Accession Numbers

Essential gene?

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

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 144737858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029932] [ENSMUST00000059091]

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	1	262	5.8e-144	PFAM
VWA	306	473	1.81e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000059091

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.44e-23	SMART
Blast:FN3	758	857	2e-44	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,329,329	I6N	possibly damaging	Het
Aen	T	C	7: 78,905,868	V188A	probably damaging	Het
Afg3l1	A	G	8: 123,501,954	E753G	probably damaging	Het
Alas1	G	A	9: 106,238,660	T385I	probably damaging	Het
Alms1	C	A	6: 85,667,963		probably benign	Het
Ankrd65	A	G	4: 155,791,411	T30A	possibly damaging	Het
App	T	C	16: 84,978,229	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,153,654	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,854,998	P1196S	probably damaging	Het
Arhgap24	A	G	5: 102,891,910	T238A	probably benign	Het
Atf7	T	C	15: 102,529,004		probably benign	Het
Best1	G	T	19: 9,993,311	S55*	probably null	Het
Capn11	A	G	17: 45,633,799	V514A	probably damaging	Het
Cep104	T	A	4: 153,989,146	M52K	probably damaging	Het
Cyp3a25	T	C	5: 146,003,027		probably null	Het
Dmxl2	G	A	9: 54,400,094	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,465		probably null	Het
Exosc9	A	G	3: 36,563,162	K355R	probably benign	Het
Fut1	A	C	7: 45,619,198	H192P	probably benign	Het
Gm572	T	A	4: 148,664,384	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,958,528	P19S	unknown	Het
Gmds	C	T	13: 32,100,473	V219I	probably damaging	Het
Gsn	G	A	2: 35,283,953	E25K	probably benign	Het
Il4i1	T	C	7: 44,839,891	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,830,320	L98P	probably damaging	Het
Khdrbs3	T	C	15: 69,024,695		probably benign	Het
Kndc1	T	C	7: 139,921,822	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,938,151	I296T	probably benign	Het
Lpl	A	T	8: 68,887,518	H55L	probably benign	Het
Lrrk2	C	A	15: 91,755,927	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,950,487	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,398,802	M543K	probably benign	Het
Mnat1	T	C	12: 73,181,776		probably benign	Het
Msto1	A	T	3: 88,911,893		probably null	Het
Mtus1	A	G	8: 41,082,739	Y647H	probably damaging	Het
Nars	A	T	18: 64,505,016	V289E	probably damaging	Het
Oit3	T	A	10: 59,428,345	K322N	probably damaging	Het
Oit3	G	A	10: 59,441,685		probably benign	Het
Olfr1024	A	G	2: 85,904,556	I166T	probably benign	Het
Olfr1467	T	A	19: 13,365,193	C188*	probably null	Het
Olfr728	T	C	14: 50,139,983	I219V	probably benign	Het
Olfr801	G	A	10: 129,670,286	R78W	probably damaging	Het
Pecr	A	T	1: 72,277,310	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,222,659	D478G	probably damaging	Het
Pls1	A	T	9: 95,776,563	M264K	probably benign	Het
Ptprj	C	A	2: 90,474,996		probably benign	Het
Pygm	A	G	19: 6,397,601	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scn8a	T	C	15: 100,969,162	V283A	probably benign	Het
Shisa5	T	C	9: 109,056,507		probably null	Het
Slc10a4	A	G	5: 73,008,505	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,892,912	I104F	probably benign	Het
Slc22a8	A	G	19: 8,610,195	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,956,462	N706S	probably benign	Het
Sos2	T	C	12: 69,650,659	K96E	probably damaging	Het
Stom	G	A	2: 35,315,965	R251*	probably null	Het
Sycp1	T	C	3: 102,845,066	E800G	probably benign	Het
Tab2	G	A	10: 7,907,481	P679L	probably damaging	Het
Tiam2	G	A	17: 3,453,382	V945I	probably damaging	Het
Trpm5	G	T	7: 143,074,517	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,682,613	I139S	probably damaging	Het
Vmn1r232	A	G	17: 20,914,026	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 18,947,552	M689I	probably benign	Het
Zc3h18	A	T	8: 122,403,165		probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp456	T	C	13: 67,362,372	K99R	probably benign	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Clca3a1	APN	3	144755251	missense	probably damaging	0.96
IGL01331:Clca3a1	APN	3	144747512	missense	probably damaging	1.00
IGL01895:Clca3a1	APN	3	144747572	nonsense	probably null
IGL01940:Clca3a1	APN	3	144746976	missense	probably benign	0.25
IGL02162:Clca3a1	APN	3	144754803	missense	probably damaging	0.98
IGL02200:Clca3a1	APN	3	144751929	splice site	probably benign
IGL03093:Clca3a1	APN	3	144747501	missense	probably damaging	0.99
Lucha	UTSW	3	144749689	missense	probably damaging	1.00
R0256:Clca3a1	UTSW	3	144730879	missense	probably damaging	0.98
R0513:Clca3a1	UTSW	3	144760562	critical splice donor site	probably null
R0543:Clca3a1	UTSW	3	144748394	splice site	probably benign
R1522:Clca3a1	UTSW	3	144755171	missense	probably benign	0.01
R1744:Clca3a1	UTSW	3	144746835	missense	probably damaging	0.99
R1873:Clca3a1	UTSW	3	144746829	missense	probably damaging	0.99
R2238:Clca3a1	UTSW	3	144752005	missense	possibly damaging	0.94
R2278:Clca3a1	UTSW	3	144758024	missense	probably damaging	0.99
R3737:Clca3a1	UTSW	3	144730721	missense	probably benign	0.01
R3981:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3982:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3983:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R4038:Clca3a1	UTSW	3	144755233	missense	probably benign	0.35
R4382:Clca3a1	UTSW	3	144760722	start codon destroyed	probably benign	0.08
R4543:Clca3a1	UTSW	3	144746988	missense	probably damaging	1.00
R4766:Clca3a1	UTSW	3	144749712	missense	probably damaging	1.00
R4899:Clca3a1	UTSW	3	144737961	missense	probably damaging	1.00
R5090:Clca3a1	UTSW	3	144737872	missense	probably benign	0.01
R5091:Clca3a1	UTSW	3	144730722	missense	probably benign	0.00
R5205:Clca3a1	UTSW	3	144746784	missense	possibly damaging	0.68
R5248:Clca3a1	UTSW	3	144737136	missense	possibly damaging	0.62
R5354:Clca3a1	UTSW	3	144737005	missense	possibly damaging	0.77
R5871:Clca3a1	UTSW	3	144754881	missense	probably damaging	1.00
R5907:Clca3a1	UTSW	3	144749642	intron	probably benign
R5976:Clca3a1	UTSW	3	144746875	missense	probably damaging	1.00
R6190:Clca3a1	UTSW	3	144758060	missense	probably benign	0.40
R6193:Clca3a1	UTSW	3	144759232	missense	possibly damaging	0.65
R6263:Clca3a1	UTSW	3	144749778	missense	probably damaging	1.00
R6299:Clca3a1	UTSW	3	144758514	missense	probably damaging	0.99
R6327:Clca3a1	UTSW	3	144730797	missense	probably benign	0.02
R6497:Clca3a1	UTSW	3	144759259	missense	possibly damaging	0.81
R6542:Clca3a1	UTSW	3	144759260	missense	probably benign	0.01
R6547:Clca3a1	UTSW	3	144736947	missense	probably damaging	1.00
R6759:Clca3a1	UTSW	3	144749689	missense	probably damaging	1.00
R7032:Clca3a1	UTSW	3	144747568	missense	probably benign	0.07
R7063:Clca3a1	UTSW	3	144755206	missense	probably damaging	0.97
R7139:Clca3a1	UTSW	3	144755302	missense	possibly damaging	0.58
R7638:Clca3a1	UTSW	3	144751962	missense	probably damaging	1.00
R7663:Clca3a1	UTSW	3	144737036	missense	probably benign	0.02
R7792:Clca3a1	UTSW	3	144749731	missense	possibly damaging	0.95
R7798:Clca3a1	UTSW	3	144757962	missense	probably damaging	1.00
R7892:Clca3a1	UTSW	3	144730818	missense	probably benign	0.00
R8096:Clca3a1	UTSW	3	144749685	missense	probably damaging	1.00
R8305:Clca3a1	UTSW	3	144759166	splice site	probably benign
R8416:Clca3a1	UTSW	3	144755153	critical splice donor site	probably null
R8446:Clca3a1	UTSW	3	144748487	missense	probably damaging	0.97
R8496:Clca3a1	UTSW	3	144747421	makesense	probably null
R9014:Clca3a1	UTSW	3	144736970	missense	probably benign	0.01
R9128:Clca3a1	UTSW	3	144758034	missense	probably damaging	1.00
R9601:Clca3a1	UTSW	3	144747549	missense	probably benign	0.27
Z1088:Clca3a1	UTSW	3	144746953	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGCTGGGCCCATTGACATG -3'
(R):5'- GACACACTCTTATCATCAATGCG -3'

Sequencing Primer
(F):5'- CTGGGCCCATTGACATGAATATTG -3'
(R):5'- CACTGTGCTTCATTATAAAGGTGCTG -3'

Posted On

2014-12-04