Mutagenetix > Incidental Mutation

Incidental Mutation 'R1586:Clca3a2'

177491

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

039623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144810716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 373 (I373T)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]

AlphaFold

Q9EQR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029929
AA Change: I373T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: I373T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.5e-21	SMART
FN3	758	857	5.49e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

Predicted Effect

probably benign
Transcript: ENSMUST00000199029

SMART Domains

Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262

Domain	Start	End	E-Value	Type
Pfam:CLCA	1	188	6.5e-77	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

93% (65/70)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,512	I282V	probably benign	Het
9030624J02Rik	T	A	7: 118,809,972	I612N	probably damaging	Het
Abca2	C	T	2: 25,447,216	A2361V	probably damaging	Het
Alpi	A	G	1: 87,100,201	I219T	probably damaging	Het
Anapc10	T	A	8: 79,775,143	M180K	probably benign	Het
Ank3	A	G	10: 69,877,878	I431V	probably damaging	Het
Anxa8	T	A	14: 34,093,937	D182E	probably damaging	Het
Atp1a3	T	A	7: 24,979,383	I945F	probably damaging	Het
Atp2a3	T	C	11: 72,991,744	S1019P	probably damaging	Het
Cbs	T	A	17: 31,622,474	I258F	probably damaging	Het
Cic	T	C	7: 25,285,961	S277P	probably damaging	Het
Cidea	T	A	18: 67,360,160	V83E	probably damaging	Het
Cilp	G	A	9: 65,279,715	G1031S	probably damaging	Het
Cpvl	T	A	6: 53,926,901	D293V	probably damaging	Het
Cryz	A	G	3: 154,611,510	N122S	probably benign	Het
Dmap1	T	C	4: 117,676,122	E245G	probably damaging	Het
Epha2	C	T	4: 141,318,605		probably benign	Het
Fam222b	C	T	11: 78,154,521	L303F	probably damaging	Het
Fastkd1	T	C	2: 69,712,148	D105G	probably benign	Het
Fat4	T	A	3: 38,888,860	L634Q	probably damaging	Het
Fbxo10	A	T	4: 45,042,036	I731N	possibly damaging	Het
Fig4	A	G	10: 41,265,427	F279L	probably damaging	Het
Guk1	A	G	11: 59,186,849	S22P	probably damaging	Het
Kmt2d	A	G	15: 98,865,053		probably benign	Het
Macf1	A	T	4: 123,509,846	S727T	probably benign	Het
Mgea5	T	G	19: 45,776,910	T153P	possibly damaging	Het
Mki67	T	A	7: 135,713,972	K54*	probably null	Het
Ms4a8a	T	C	19: 11,076,332	T137A	possibly damaging	Het
Myo5c	T	C	9: 75,267,031	Y557H	probably damaging	Het
Nav3	T	A	10: 109,853,254	K387N	probably damaging	Het
Olfr1432	G	T	19: 12,228,877	A223E	probably damaging	Het
Pde4c	T	A	8: 70,746,859	Y223N	probably damaging	Het
Psd	T	G	19: 46,314,798	E715A	probably damaging	Het
Rpl7	A	T	1: 16,102,583	S171T	probably benign	Het
Rrm1	A	G	7: 102,466,905	*66W	probably null	Het
Scgb1b3	T	A	7: 31,375,963	H79Q	probably damaging	Het
Serpinb9	A	T	13: 33,015,486	M255L	probably benign	Het
Slc35a4	T	C	18: 36,683,005	V296A	probably benign	Het
Smgc	G	A	15: 91,838,393	A9T	possibly damaging	Het
Snx11	C	A	11: 96,770,696	W161L	probably benign	Het
Spag17	A	G	3: 100,021,752	K533E	possibly damaging	Het
Speer4b	A	G	5: 27,497,013	S250P	probably damaging	Het
Spta1	A	T	1: 174,213,495	H1287L	probably benign	Het
Surf2	T	C	2: 26,919,755	F239S	probably damaging	Het
Tada1	G	A	1: 166,386,750	R106H	possibly damaging	Het
Tbc1d22a	C	A	15: 86,351,651		probably null	Het
Tbcd	A	G	11: 121,497,060	Q339R	probably benign	Het
Tdrd7	A	G	4: 45,994,445	H281R	probably benign	Het
Tomm5	A	G	4: 45,107,915		probably null	Het
Ttc7	T	C	17: 87,361,945		probably null	Het
Ulk1	A	T	5: 110,789,516	F638Y	probably damaging	Het
Wdr93	C	A	7: 79,768,361	D277E	probably damaging	Het
Znrf3	T	C	11: 5,281,477	R583G	probably damaging	Het
Zscan29	T	A	2: 121,161,160	I716F	probably damaging	Het

Other mutations in Clca3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Clca3a2	APN	3	144813627	nonsense	probably null
IGL01663:Clca3a2	APN	3	144817155	missense	probably damaging	0.97
IGL01779:Clca3a2	APN	3	144819378	missense	possibly damaging	0.47
IGL02066:Clca3a2	APN	3	144813455	missense	probably benign
IGL02301:Clca3a2	APN	3	144806372	missense	probably damaging	0.98
IGL02619:Clca3a2	APN	3	144806322	missense	probably damaging	1.00
IGL02852:Clca3a2	APN	3	144806343	missense	probably damaging	0.98
IGL02901:Clca3a2	APN	3	144816768	missense	probably damaging	1.00
IGL03162:Clca3a2	APN	3	144806416	missense	probably damaging	1.00
R0032:Clca3a2	UTSW	3	144816733	missense	probably benign	0.01
R0244:Clca3a2	UTSW	3	144813898	missense	possibly damaging	0.90
R1249:Clca3a2	UTSW	3	144803004	missense	possibly damaging	0.80
R1370:Clca3a2	UTSW	3	144813863	splice site	probably benign
R1776:Clca3a2	UTSW	3	144813920	missense	probably damaging	1.00
R1797:Clca3a2	UTSW	3	144797637	missense	probably benign	0.01
R1869:Clca3a2	UTSW	3	144806403	missense	probably benign	0.44
R1871:Clca3a2	UTSW	3	144797637	missense	probably benign	0.01
R1919:Clca3a2	UTSW	3	144810696	missense	probably benign
R1923:Clca3a2	UTSW	3	144805730	missense	probably damaging	1.00
R2200:Clca3a2	UTSW	3	144813924	missense	probably benign	0.10
R2324:Clca3a2	UTSW	3	144806280	critical splice donor site	probably null
R2937:Clca3a2	UTSW	3	144813918	missense	probably benign	0.06
R3429:Clca3a2	UTSW	3	144806327	missense	probably benign	0.07
R3434:Clca3a2	UTSW	3	144808761	unclassified	probably benign
R3551:Clca3a2	UTSW	3	144803081	missense	probably damaging	1.00
R3952:Clca3a2	UTSW	3	144803061	missense	probably damaging	1.00
R4120:Clca3a2	UTSW	3	144810852	missense	probably benign	0.25
R4383:Clca3a2	UTSW	3	144806320	missense	probably benign	0.02
R4518:Clca3a2	UTSW	3	144808705	missense	probably damaging	1.00
R4598:Clca3a2	UTSW	3	144805683	missense	probably damaging	1.00
R4801:Clca3a2	UTSW	3	144807351	missense	possibly damaging	0.95
R4802:Clca3a2	UTSW	3	144807351	missense	possibly damaging	0.95
R4816:Clca3a2	UTSW	3	144810852	missense	probably benign	0.25
R4934:Clca3a2	UTSW	3	144817931	missense	probably damaging	1.00
R4942:Clca3a2	UTSW	3	144806502	missense	probably damaging	1.00
R5123:Clca3a2	UTSW	3	144806343	missense	probably damaging	1.00
R5156:Clca3a2	UTSW	3	144805838	missense	probably benign	0.26
R5275:Clca3a2	UTSW	3	144813579	missense	probably damaging	1.00
R5372:Clca3a2	UTSW	3	144797525	missense	probably benign	0.00
R5656:Clca3a2	UTSW	3	144797632	missense	probably benign	0.26
R6059:Clca3a2	UTSW	3	144810770	missense	probably damaging	1.00
R6155:Clca3a2	UTSW	3	144819357	missense	probably damaging	0.99
R6254:Clca3a2	UTSW	3	144802134	missense	probably benign
R6336:Clca3a2	UTSW	3	144806478	missense	probably benign
R6470:Clca3a2	UTSW	3	144804263	splice site	probably null
R6593:Clca3a2	UTSW	3	144808577	critical splice donor site	probably null
R6631:Clca3a2	UTSW	3	144813644	missense	probably benign
R6826:Clca3a2	UTSW	3	144818054	missense	possibly damaging	0.46
R6836:Clca3a2	UTSW	3	144806383	missense	probably damaging	0.97
R6896:Clca3a2	UTSW	3	144808701	missense	probably damaging	1.00
R7211:Clca3a2	UTSW	3	144814014	missense	probably benign	0.00
R7324:Clca3a2	UTSW	3	144808611	missense	probably damaging	0.99
R7411:Clca3a2	UTSW	3	144802099	missense	probably damaging	1.00
R7486:Clca3a2	UTSW	3	144797601	missense	probably damaging	1.00
R7491:Clca3a2	UTSW	3	144813579	missense	probably damaging	1.00
R7521:Clca3a2	UTSW	3	144801913	makesense	probably null
R7889:Clca3a2	UTSW	3	144810813	nonsense	probably null
R7946:Clca3a2	UTSW	3	144807314	critical splice donor site	probably null
R7991:Clca3a2	UTSW	3	144813995	missense	probably benign	0.00
R8022:Clca3a2	UTSW	3	144805766	missense	probably damaging	1.00
R8344:Clca3a2	UTSW	3	144805942	critical splice acceptor site	probably null
R8367:Clca3a2	UTSW	3	144817747	splice site	probably null
R8371:Clca3a2	UTSW	3	144807353	nonsense	probably null
R8814:Clca3a2	UTSW	3	144797764	missense	probably benign	0.18
R9031:Clca3a2	UTSW	3	144805714	missense	probably damaging	1.00
R9069:Clca3a2	UTSW	3	144813686	splice site	probably benign
R9201:Clca3a2	UTSW	3	144813923	missense	probably benign	0.00
R9261:Clca3a2	UTSW	3	144819397	missense	probably benign
R9469:Clca3a2	UTSW	3	144802177	missense	probably damaging	1.00
R9515:Clca3a2	UTSW	3	144803047	nonsense	probably null
R9569:Clca3a2	UTSW	3	144807314	critical splice donor site	probably null
R9664:Clca3a2	UTSW	3	144797814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCCCAAGGAACCTTTGCCC -3'
(R):5'- CAGTCAAGGTTGGAAGAGACTCTGC -3'

Sequencing Primer
(F):5'- TGGTCACACAGCATCTCAGG -3'
(R):5'- GAGACTCTGCTATTGTACATGCATC -3'

Posted On

2014-04-24