Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:Clca4a'

308749

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

MMRRC Submission

040795-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R3881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144957318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 590 (N590S)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029923]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029923
AA Change: N590S

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: N590S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
VWA	306	480	5.94e-16	SMART
Blast:VWA	513	552	7e-18	BLAST
Blast:FN3	757	838	8e-33	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136170

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,498,389	K44T	possibly damaging	Het
4933402N03Rik	T	C	7: 131,139,094	E131G	probably benign	Het
9530053A07Rik	T	A	7: 28,140,038	C425*	probably null	Het
Angptl4	G	A	17: 33,777,034	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,398	S201P	probably damaging	Het
Cep95	A	G	11: 106,806,292	I257V	probably damaging	Het
Cyfip2	A	G	11: 46,208,335	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,618,617	Q136L	probably benign	Het
Def6	T	C	17: 28,220,215	C267R	probably damaging	Het
Dgat2	G	A	7: 99,169,743	Q69*	probably null	Het
Dlgap1	T	A	17: 70,786,815	S710R	probably damaging	Het
Dnah10	T	C	5: 124,773,031	I1539T	probably benign	Het
Dnah2	T	A	11: 69,451,347	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,919,692	S76P	probably damaging	Het
Esr2	T	C	12: 76,167,620	D19G	probably damaging	Het
Fam13b	A	T	18: 34,462,059		probably null	Het
Fbxw14	A	T	9: 109,271,194	V464D	possibly damaging	Het
Gm21961	A	G	15: 65,014,867		probably null	Het
Gpd2	C	T	2: 57,338,975	R264*	probably null	Het
Hps5	A	G	7: 46,771,996	V648A	possibly damaging	Het
Ints4	A	G	7: 97,516,257	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,113,840	N1860S	probably benign	Het
Itsn2	G	A	12: 4,634,546		probably benign	Het
Jup	A	G	11: 100,378,381	V402A	probably benign	Het
Letm2	C	A	8: 25,593,868	E116*	probably null	Het
Ly6c1	T	C	15: 75,045,587	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,506,446	S1591N	probably benign	Het
Mier2	C	T	10: 79,548,750		probably null	Het
Mocs2	T	A	13: 114,819,346	L10*	probably null	Het
Myo6	A	G	9: 80,264,256	D513G	probably damaging	Het
Myoz2	T	C	3: 123,013,720	Y147C	probably damaging	Het
Nin	C	T	12: 70,042,541	V1367M	probably benign	Het
Nr2f6	C	T	8: 71,376,031	A200T	probably damaging	Het
Obscn	C	T	11: 59,056,949	C4418Y	probably damaging	Het
Olfr1331	A	G	4: 118,869,353	M191V	probably benign	Het
Olfr1495	T	C	19: 13,768,780	V146A	probably benign	Het
Olfr154	T	A	2: 85,664,425	H3L	probably benign	Het
Paxip1	C	T	5: 27,748,839	R953Q	probably damaging	Het
Pcdha1	A	T	18: 36,931,401	I373F	possibly damaging	Het
Pcdha7	G	A	18: 36,975,379	E486K	probably benign	Het
Recql5	G	A	11: 115,893,954	P849L	probably benign	Het
Recql5	G	T	11: 115,893,955	P849T	probably benign	Het
Rnf180	A	T	13: 105,250,407	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,914,422	S3P	probably benign	Het
Rpp38	T	A	2: 3,329,246	R206S	probably benign	Het
Sdha	G	T	13: 74,339,192	P159Q	probably damaging	Het
Shank2	T	C	7: 144,405,384	V199A	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Timm50	C	A	7: 28,311,007	A41S	probably benign	Het
Tmbim1	A	G	1: 74,289,998		probably benign	Het
Tmprss11a	C	T	5: 86,445,805	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,183,240	H411L	probably damaging	Het
Ube4b	A	T	4: 149,365,404		probably null	Het
Zdhhc22	T	A	12: 86,983,626	M183L	probably benign	Het
Zfp106	A	G	2: 120,532,149	S830P	probably benign	Het

Other mutations in Clca4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Clca4a	APN	3	144954939	missense	probably damaging	0.99
IGL01139:Clca4a	APN	3	144966269	missense	probably damaging	0.99
IGL01371:Clca4a	APN	3	144960672	missense	probably damaging	1.00
IGL01609:Clca4a	APN	3	144953780	missense	probably damaging	1.00
IGL01998:Clca4a	APN	3	144958126	missense	probably damaging	0.98
IGL02172:Clca4a	APN	3	144970394	nonsense	probably null
IGL02217:Clca4a	APN	3	144961996	missense	possibly damaging	0.61
IGL02514:Clca4a	APN	3	144955071	missense	probably damaging	1.00
IGL02975:Clca4a	APN	3	144963769	missense	possibly damaging	0.90
IGL03025:Clca4a	APN	3	144957318	missense	probably benign	0.07
IGL03049:Clca4a	APN	3	144970755	splice site	probably benign
IGL03058:Clca4a	APN	3	144961834	splice site	probably benign
IGL03259:Clca4a	APN	3	144958080	missense	probably damaging	1.00
IGL03263:Clca4a	APN	3	144966431	missense	probably damaging	1.00
IGL03334:Clca4a	APN	3	144953866	missense	probably benign	0.28
PIT4142001:Clca4a	UTSW	3	144968311	missense	probably damaging	1.00
R0201:Clca4a	UTSW	3	144960717	missense	probably benign	0.00
R0316:Clca4a	UTSW	3	144953764	missense	probably damaging	1.00
R0524:Clca4a	UTSW	3	144969393	missense	probably damaging	1.00
R0680:Clca4a	UTSW	3	144969367	missense	probably damaging	1.00
R0688:Clca4a	UTSW	3	144961974	missense	probably damaging	1.00
R1137:Clca4a	UTSW	3	144970685	missense	probably damaging	1.00
R1568:Clca4a	UTSW	3	144952929	missense	probably benign	0.00
R1719:Clca4a	UTSW	3	144963755	missense	probably damaging	1.00
R2055:Clca4a	UTSW	3	144970728	missense	probably damaging	1.00
R3078:Clca4a	UTSW	3	144968253	missense	probably damaging	0.99
R3080:Clca4a	UTSW	3	144963790	missense	probably damaging	1.00
R3789:Clca4a	UTSW	3	144974956	missense	probably damaging	1.00
R4133:Clca4a	UTSW	3	144969352	missense	probably benign	0.07
R4402:Clca4a	UTSW	3	144952848	missense	probably benign	0.08
R4455:Clca4a	UTSW	3	144957259	missense	probably damaging	1.00
R4577:Clca4a	UTSW	3	144954969	missense	probably damaging	0.97
R4683:Clca4a	UTSW	3	144954940	missense	probably damaging	1.00
R5135:Clca4a	UTSW	3	144954946	missense	probably damaging	1.00
R5267:Clca4a	UTSW	3	144953812	missense	probably damaging	1.00
R5345:Clca4a	UTSW	3	144970461	missense	probably damaging	1.00
R6311:Clca4a	UTSW	3	144966413	missense	probably damaging	0.99
R6492:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6493:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6494:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6861:Clca4a	UTSW	3	144970655	missense	probably benign
R7102:Clca4a	UTSW	3	144961909	missense	probably benign	0.01
R7133:Clca4a	UTSW	3	144961890	nonsense	probably null
R7171:Clca4a	UTSW	3	144958173	missense	probably benign
R7516:Clca4a	UTSW	3	144966248	missense	probably damaging	1.00
R7642:Clca4a	UTSW	3	144953751	missense	probably benign	0.11
R7731:Clca4a	UTSW	3	144952785	missense	probably benign	0.02
R7787:Clca4a	UTSW	3	144953833	missense	probably benign
R7820:Clca4a	UTSW	3	144960671	missense	probably damaging	1.00
R7895:Clca4a	UTSW	3	144968405	missense	probably benign	0.19
R7991:Clca4a	UTSW	3	144952739	missense	possibly damaging	0.75
R8240:Clca4a	UTSW	3	144970727	missense	probably damaging	1.00
R9308:Clca4a	UTSW	3	144970422	missense	probably damaging	1.00
R9373:Clca4a	UTSW	3	144966372	missense	possibly damaging	0.66
R9488:Clca4a	UTSW	3	144953771	missense	probably damaging	1.00
R9772:Clca4a	UTSW	3	144970661	missense	probably damaging	1.00
R9781:Clca4a	UTSW	3	144961952	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAGAAGGACTAGCTCTTCTGTC -3'
(R):5'- AGCTTCAGTACCTGAGGAATCAAG -3'

Sequencing Primer
(F):5'- CTTCCCACTGTTAGATTCTATGGTGG -3'
(R):5'- GTACCTGAGGAATCAAGACCTTTC -3'

Posted On

2015-04-17