Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Clca4a'

522941

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R6492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144957298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 597 (T597S)

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: T597S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T597S

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,654,505	T587I	probably benign	Het
Abl1	T	A	2: 31,801,655	M1062K	probably benign	Het
Agbl4	G	A	4: 111,547,272	D272N	probably damaging	Het
Apob	A	T	12: 8,008,261	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,218,957	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,979,304	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 90,883,722	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,876,967	M291K	probably damaging	Het
Cachd1	G	T	4: 100,952,118	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,784,828	L188M	probably damaging	Het
Ceacam19	T	C	7: 19,882,592	N199S	probably benign	Het
Chrna5	A	G	9: 54,998,063	D53G	probably benign	Het
Cluap1	T	A	16: 3,928,612	M279K	probably benign	Het
Cngb1	T	A	8: 95,264,424	M717L	probably benign	Het
Cp	T	C	3: 19,982,022	V777A	probably benign	Het
Drosha	A	G	15: 12,861,706	D594G	probably benign	Het
Exo5	A	G	4: 120,921,537		probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gprc5b	A	G	7: 118,984,577	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,259,218	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,539,042	Y362C	probably damaging	Het
Itfg1	A	G	8: 85,740,349	V365A	probably benign	Het
Josd2	T	C	7: 44,471,154	I105T	probably damaging	Het
Mc3r	G	A	2: 172,249,154	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,488,891		probably null	Het
Mgat5	A	G	1: 127,471,564	I619V	probably benign	Het
Nin	T	C	12: 70,054,534	I430V	probably benign	Het
Olfr1047	T	A	2: 86,228,387	I195F	possibly damaging	Het
Olfr1052	T	C	2: 86,298,646	F277L	probably benign	Het
Olfr153	C	G	2: 87,532,741	A236G	possibly damaging	Het
Olfr221	A	G	14: 52,035,445	F222S	probably benign	Het
Olfr668	C	A	7: 104,925,645	A40S	possibly damaging	Het
Parvb	T	C	15: 84,303,872	L272P	probably damaging	Het
Pde2a	A	G	7: 101,500,442	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,324,562	T736M	probably damaging	Het
Plcb4	C	T	2: 135,973,071	R760*	probably null	Het
Pramel6	C	T	2: 87,510,422	T366I	probably benign	Het
Prr29	C	T	11: 106,375,236	R42W	probably damaging	Het
Prss12	A	G	3: 123,447,399	I81V	probably benign	Het
Ptpn13	A	G	5: 103,501,612	T294A	probably benign	Het
Ptprc	A	T	1: 138,113,562		probably null	Het
Sin3b	T	A	8: 72,733,490		probably null	Het
Slco5a1	T	C	1: 12,989,927	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,125,813	Y121S	probably damaging	Het
Srcap	G	T	7: 127,522,145	G217*	probably null	Het
Ss18	A	T	18: 14,651,088	M181K	probably damaging	Het
Synm	T	C	7: 67,736,061	T176A	probably benign	Het
Taf3	T	C	2: 9,951,160	E579G	probably damaging	Het
Taf7	A	G	18: 37,643,106	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Tyrp1	A	G	4: 80,840,781	D297G	probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Wisp3	C	T	10: 39,154,987	G180D	probably benign	Het
Wwp1	G	A	4: 19,650,299	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,521,005	V4A	probably benign	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zbtb2	T	C	10: 4,369,711	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,110,496		probably benign	Het
Zkscan8	A	T	13: 21,525,227	I167N	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
R3881:Clca4a	UTSW	3	144957318	missense	probably benign	0.07
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
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

Posted On

2018-06-06