Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Clca4a'

265281

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

MMRRC Submission

040568-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144968253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 240 (M240I)

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: M240I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: M240I

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: ENSMUST00000198898

Meta Mutation Damage Score

0.7162

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	G	C	5: 24,546,666	T528S	probably benign	Het
Abca12	T	C	1: 71,267,605	I1981V	probably benign	Het
Actr3b	A	G	5: 25,822,442	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,129,105	I248F	probably benign	Het
Alg10b	T	C	15: 90,227,936	S328P	probably benign	Het
C5ar2	G	A	7: 16,237,424	R193C	probably damaging	Het
Cct8	A	G	16: 87,488,877	V231A	possibly damaging	Het
Cmya5	A	T	13: 93,048,927	I3520N	probably damaging	Het
Dock6	G	T	9: 21,845,754		probably benign	Het
Dynlrb1	T	A	2: 155,249,945	I99N	probably damaging	Het
Ebf4	G	A	2: 130,306,499	D77N	probably damaging	Het
Fam196a	A	G	7: 134,918,021	I260T	probably benign	Het
Fbxw10	C	T	11: 62,867,513		probably benign	Het
Gm10801	T	C	2: 98,663,852	I113T	probably damaging	Het
Gm14085	T	C	2: 122,514,414	L167P	possibly damaging	Het
Gm5499	T	C	17: 87,078,886		noncoding transcript	Het
Gm9913	A	G	2: 125,506,539		probably benign	Het
Herc2	A	G	7: 56,137,243	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,386,001	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,503,124		probably null	Het
Kif14	T	G	1: 136,519,645	I1396S	possibly damaging	Het
Med28	A	G	5: 45,522,478	T68A	possibly damaging	Het
Meis1	A	T	11: 19,011,254	N206K	probably benign	Het
Mfsd14a	T	C	3: 116,647,917		probably benign	Het
Mnt	G	C	11: 74,843,110		probably benign	Het
Mto1	A	G	9: 78,458,028	Y413C	probably damaging	Het
Myo7b	T	C	18: 31,967,184	D1599G	probably benign	Het
Myoz1	T	C	14: 20,653,617		probably benign	Het
Nhsl2	C	T	X: 102,077,595	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,260,416	C274G	probably damaging	Het
Olfr204	A	T	16: 59,314,726	M227K	probably benign	Het
Olfr389	G	A	11: 73,776,640	P229L	possibly damaging	Het
Phldb2	T	C	16: 45,825,010	T403A	probably benign	Het
Plaa	T	C	4: 94,569,805	I643V	probably benign	Het
Stau1	T	C	2: 166,955,016	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,632	I221V	probably benign	Het
Wdr93	T	C	7: 79,752,493	I180T	possibly damaging	Het
Whamm	G	C	7: 81,571,784	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,513,183	Y41*	probably null	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
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
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'- CCAAATATGCATGCTCAAGTAAAGTCC -3'
(R):5'- ATATCTTGCCACAAAGCTCAGTG -3'

Sequencing Primer
(F):5'- GGGTATCAGTCAATGTTCAATGGAC -3'
(R):5'- TGGGAGCAGGGCCACTTTTC -3'

Posted On

2015-02-05