Mutagenetix > Incidental Mutation

Incidental Mutation 'R1370:Clca3a2'

155928

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

039434-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R1370 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 144813863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

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

noncoding transcript
Transcript: ENSMUST00000159643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Adgra3	T	C	5: 49,960,787	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,227,770		probably null	Het
Afap1	A	G	5: 35,935,600	D16G	unknown	Het
AI593442	T	C	9: 52,678,008	K90E	probably damaging	Het
Aicda	A	T	6: 122,561,185	N101Y	probably benign	Het
Alx1	A	G	10: 103,028,492	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,388,696	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655	W14*	probably null	Het
Bin1	A	G	18: 32,429,703	I416V	probably benign	Het
Bptf	A	T	11: 107,047,094	S2724T	probably damaging	Het
Brf1	A	T	12: 112,961,108		probably null	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cd226	T	A	18: 89,247,023	S29T	probably benign	Het
Cdan1	A	G	2: 120,719,139		probably null	Het
Chaf1a	A	T	17: 56,064,032	H639L	probably benign	Het
Chd1	G	A	17: 17,387,480	G430D	probably benign	Het
Clptm1	A	G	7: 19,633,872	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,471,452	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,692,658	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854		probably benign	Het
Dennd4c	T	A	4: 86,811,510	I783N	probably damaging	Het
Dock10	A	G	1: 80,540,343	S1305P	probably damaging	Het
Eml6	T	G	11: 29,833,085	S599R	probably benign	Het
Gbp8	C	T	5: 105,016,576	A394T	possibly damaging	Het
Gm13023	T	A	4: 143,795,304	L497I	possibly damaging	Het
H1fx	A	G	6: 87,981,151	I69T	probably damaging	Het
Herc2	T	A	7: 56,168,873	C2771S	probably benign	Het
Ism1	A	T	2: 139,732,074	I115F	possibly damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itgb8	C	T	12: 119,171,003	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584	I1274F	possibly damaging	Het
Klk11	A	G	7: 43,776,907	I22V	probably benign	Het
Krt6b	T	C	15: 101,677,552	D362G	probably damaging	Het
Lce1e	A	G	3: 92,707,843	S66P	unknown	Het
Letm1	A	T	5: 33,778,682		probably null	Het
Lrrcc1	G	T	3: 14,548,114	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420		probably null	Het
Mrpl12	A	G	11: 120,485,301	S46G	probably benign	Het
Narfl	A	G	17: 25,776,988	E62G	probably benign	Het
Ndrg3	T	C	2: 156,938,650	E198G	probably damaging	Het
Olfr198	A	G	16: 59,201,680	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,468,301	I521T	probably benign	Het
Pdzph1	T	C	17: 58,974,087	D400G	possibly damaging	Het
Per2	A	T	1: 91,445,557	S170T	possibly damaging	Het
Pros1	A	G	16: 62,919,558	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624	M156L	probably benign	Het
Rerg	A	T	6: 137,057,801		probably benign	Het
Sel1l3	G	T	5: 53,200,217	H144Q	possibly damaging	Het
Sept2	G	T	1: 93,499,106	V146L	probably damaging	Het
Setd1b	C	T	5: 123,160,685		probably benign	Het
Sh3bp4	A	T	1: 89,143,772	Y114F	probably benign	Het
Slc44a5	C	A	3: 154,243,159	T188K	probably benign	Het
Slco6d1	A	C	1: 98,423,094	I100L	probably benign	Het
Slfn4	G	T	11: 83,188,806	D441Y	probably damaging	Het
Smg1	T	C	7: 118,159,752		probably benign	Het
Snrpb2	A	G	2: 143,065,166		probably benign	Het
Sspo	T	A	6: 48,448,626	S60R	probably benign	Het
Stard9	T	C	2: 120,697,477	V1405A	probably benign	Het
Syt1	A	G	10: 108,690,922	L42P	probably damaging	Het
Tarbp1	T	C	8: 126,448,330	D789G	probably benign	Het
Tbcel	A	T	9: 42,450,062	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,458,054		probably benign	Het
Tiam1	A	T	16: 89,898,221	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,437,664		probably benign	Het
Tsga10	G	T	1: 37,835,453	T117K	probably damaging	Het
Ttc3	A	G	16: 94,418,637	S492G	possibly damaging	Het
Ttn	G	T	2: 76,847,151		probably benign	Het
Wasf3	T	C	5: 146,470,208		probably benign	Het
Zbtb37	C	T	1: 161,032,022	E238K	probably benign	Het
Zfp354c	A	G	11: 50,815,840	I136T	probably benign	Het
Zfp384	G	A	6: 125,036,453	A479T	probably benign	Het
Zfp646	T	A	7: 127,879,864	N404K	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
R1586:Clca3a2	UTSW	3	144810716	missense	possibly damaging	0.94
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'- CAGCAGACGCCTTGATTACATCCC -3'
(R):5'- TTTTATCATAGGTGCTCCGCCAGC -3'

Sequencing Primer
(F):5'- TTCTGTGCAAAATTCAACCACCTG -3'
(R):5'- TCCGCCAGCATCACAGG -3'

Posted On

2014-02-11