Mutagenetix > Incidental Mutation

Incidental Mutation 'R6311:Clca4a'

509765

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: 0.310) question?

Stock #

R6311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144966413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 256 (N256I)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029923
AA Change: N256I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: N256I

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,625,792	I1044T	probably damaging	Het
Arhgef4	T	G	1: 34,723,981	F773V	unknown	Het
B4galnt4	A	G	7: 141,068,659	N696S	probably damaging	Het
Cdh16	T	A	8: 104,614,433	D786V	probably benign	Het
Cdh8	T	C	8: 99,400,895	Y28C	probably damaging	Het
Cgn	C	T	3: 94,778,176		probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chst10	A	G	1: 38,868,047	V174A	probably damaging	Het
Cntnap5a	G	A	1: 116,412,106	W698*	probably null	Het
Ddx24	C	A	12: 103,423,907	R275L	probably damaging	Het
Dnmt3b	G	T	2: 153,674,005	G444V	probably damaging	Het
Ermn	A	G	2: 58,051,759	F109S	probably damaging	Het
Fam227a	C	T	15: 79,640,694	A190T	probably benign	Het
Fstl4	T	C	11: 53,176,977	W556R	probably damaging	Het
Fut2	T	A	7: 45,650,380	I323F	possibly damaging	Het
Grik2	T	G	10: 49,578,138	K94Q	probably damaging	Het
Hsd3b5	T	C	3: 98,630,090	R37G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Kmt2c	A	G	5: 25,443,818		probably null	Het
Lrriq1	A	T	10: 103,173,393	D1076E	probably benign	Het
Mical2	T	A	7: 112,323,558	I590N	probably damaging	Het
Mycbp2	A	G	14: 103,262,740	L940P	possibly damaging	Het
Nr6a1	T	C	2: 38,739,071	I257V	possibly damaging	Het
Olfr1452-ps1	T	A	19: 13,016,571	M116K	probably damaging	Het
Olfr812	A	G	10: 129,842,907	L45P	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,263		probably null	Het
Pdcl3	A	G	1: 38,987,844	M1V	probably null	Het
Pdzd2	T	A	15: 12,458,188	E196D	probably damaging	Het
Pgm1	G	A	5: 64,116,415	C581Y	probably benign	Het
Pgm2	T	C	4: 99,970,040	F379S	possibly damaging	Het
Plbd1	T	A	6: 136,613,947	H407L	probably benign	Het
Prdm12	A	G	2: 31,654,309	Y308C	probably benign	Het
Prdm15	T	C	16: 97,799,055	E893G	probably null	Het
Slc17a2	A	G	13: 23,815,022	T133A	probably benign	Het
Slc9a8	T	A	2: 167,451,220	S163T	probably damaging	Het
Sult2a3	T	C	7: 14,111,557	I126V	probably benign	Het
Tlr1	C	T	5: 64,926,845	D130N	probably damaging	Het
Ugt3a2	A	T	15: 9,361,518	K127*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	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
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'- ACATCAAGAACTAGGCACATAATTCT -3'
(R):5'- CATTCAATATATGTATGGGCATGCAT -3'

Sequencing Primer
(F):5'- GAACTAGGCACATAATTCTCTCACTG -3'
(R):5'- CAGCTGTCTAATTGAACCTGAGGC -3'

Posted On

2018-04-02