Mutagenetix > Incidental Mutation

Incidental Mutation 'R3737:Clca3a1'

270157

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

040724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R3737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144730721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 867 (V867A)

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 benign
Transcript: ENSMUST00000059091
AA Change: V867A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: V867A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200672

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Arap1	A	T	7: 101,400,277	Y982F	possibly damaging	Het
Bicral	A	T	17: 46,825,910	Y125N	probably damaging	Het
Brd2	A	G	17: 34,117,080	L53S	probably benign	Het
Ccdc88c	G	A	12: 100,930,524	A1389V	possibly damaging	Het
Cdk17	G	A	10: 93,221,644		probably null	Het
Dchs1	T	A	7: 105,762,316	D1531V	possibly damaging	Het
Dnah9	G	A	11: 66,156,908	Q29*	probably null	Het
Dopey1	T	C	9: 86,494,433	V240A	probably damaging	Het
Fgfbp1	T	C	5: 43,979,596	Y118C	probably damaging	Het
Gal3st2c	A	G	1: 94,009,328	I332V	possibly damaging	Het
Gprc6a	A	C	10: 51,626,911	N285K	probably benign	Het
Hcn4	A	G	9: 58,843,889	D266G	probably benign	Het
Hmcn2	A	T	2: 31,336,612	K200*	probably null	Het
Hmgcr	C	G	13: 96,651,063	L852F	probably damaging	Het
Ifi203	T	A	1: 173,929,474		probably benign	Het
Il1f5	T	C	2: 24,281,203	F101S	probably damaging	Het
Isl2	A	G	9: 55,542,470	S119G	probably benign	Het
Kctd9	G	A	14: 67,734,288	D157N	possibly damaging	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,804,474	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Mon2	A	G	10: 123,013,375	L1340P	probably damaging	Het
Myh9	G	A	15: 77,766,812	R1612C	probably damaging	Het
Nlrp4f	T	C	13: 65,194,007	N608S	probably benign	Het
Nolc1	CAG	CAGTAG	19: 46,081,353		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,370		probably benign	Het
Nolc1	C	CAGT	19: 46,081,377		probably benign	Het
Olfr878	G	A	9: 37,918,641		probably benign	Het
Osbpl2	G	A	2: 180,161,560	R475H	probably damaging	Het
Pcm1	T	A	8: 41,261,043	Y215*	probably null	Het
Pde6c	T	A	19: 38,140,224	V212D	probably damaging	Het
Ppl	T	C	16: 5,106,857	T115A	probably benign	Het
Prtg	G	T	9: 72,842,709	E132*	probably null	Het
R3hcc1	C	T	14: 69,697,593	R262Q	probably benign	Het
Serpinb6d	T	A	13: 33,667,680	V140E	probably damaging	Het
Ska3	A	T	14: 57,811,596	M306K	probably benign	Het
Spesp1	T	A	9: 62,273,036	I197L	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Tprgl	T	C	4: 154,160,128	I137V	probably benign	Het
Ttk	C	A	9: 83,854,837	P450T	possibly damaging	Het
Ube2j1	A	T	4: 33,036,723	M16L	probably benign	Het
Ubr3	G	A	2: 69,971,234		probably null	Het
Usp42	C	T	5: 143,715,439	S943N	probably benign	Het
Usp49	G	A	17: 47,672,318	V83M	probably damaging	Het
Usp6nl	C	A	2: 6,440,917	N568K	probably damaging	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Vmn1r55	T	G	7: 5,147,196	D76A	probably damaging	Het
Xrcc6	T	C	15: 82,029,631	Y53H	probably damaging	Het
Zbtb7c	T	G	18: 76,136,940	L33R	probably damaging	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
R2516:Clca3a1	UTSW	3	144737858	splice site	probably null
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'- CAGGCAGCCTTTGAGTGTGTAG -3'
(R):5'- CAGCATCCTCTGGATCTCCAAG -3'

Sequencing Primer
(F):5'- CAGCCTTTGAGTGTGTAGTAAAGTC -3'
(R):5'- CTCTGGATCTCCAAGAAGATTTTAAC -3'

Posted On

2015-03-18