Mutagenetix > Incidental Mutation

Incidental Mutation 'R7642:Clca4a'

590286

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 #

R7642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144953751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 781 (D781E)

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: D781E

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: D781E

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

0.1299

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b1	T	C	13: 94,477,032	S680P	probably benign	Het
Carmil1	T	C	13: 24,067,206	T844A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Col10a1	A	G	10: 34,395,642	M537V	probably benign	Het
Col5a2	A	G	1: 45,376,088	M1497T	probably benign	Het
Csmd1	T	A	8: 16,085,178	I1655F	probably damaging	Het
Cts3	A	G	13: 61,568,775	S16P	probably benign	Het
Cyp2c67	T	C	19: 39,615,640	Y424C	probably damaging	Het
Dip2c	T	C	13: 9,622,705		probably null	Het
Dnah5	T	C	15: 28,247,979		probably null	Het
Dpp4	A	G	2: 62,360,283		probably null	Het
Fam135b	T	G	15: 71,479,142	N295T	possibly damaging	Het
Fign	A	G	2: 63,980,572	V118A	probably benign	Het
Gpr108	A	T	17: 57,236,228	Y480*	probably null	Het
Ky	T	C	9: 102,542,270	V492A	probably benign	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Lrrc30	C	T	17: 67,632,477	G36E	probably damaging	Het
Map2	T	C	1: 66,413,307	V452A	probably benign	Het
Mks1	C	T	11: 87,856,840	T183M	possibly damaging	Het
Mpg	G	A	11: 32,229,517		probably null	Het
Nat10	A	G	2: 103,726,786	L841P	possibly damaging	Het
Nbeal1	A	G	1: 60,277,227	E1863G	probably benign	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nr2e3	T	A	9: 59,947,388	I292F	possibly damaging	Het
Nxn	T	C	11: 76,272,459	Y246C	probably damaging	Het
Olfr1048	A	T	2: 86,236,316	L166*	probably null	Het
Olfr1289	T	C	2: 111,483,478	F44S	probably damaging	Het
Olfr194	T	G	16: 59,119,648	T141P	possibly damaging	Het
Olfr196	A	G	16: 59,167,717	V142A	probably benign	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Pcdha5	T	A	18: 36,960,491	F18I	probably benign	Het
Pcdhb17	A	G	18: 37,485,726	K190E	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Ppm1g	G	T	5: 31,205,103	Y284*	probably null	Het
Rp1	A	G	1: 4,147,831	V1026A	unknown	Het
Scap	C	T	9: 110,374,013	R252C	probably damaging	Het
Scn9a	C	A	2: 66,536,236	K734N	probably benign	Het
Sema5a	C	T	15: 32,682,325	S955F	probably damaging	Het
Serpinb10	A	G	1: 107,529,101		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Sh2d5	A	G	4: 138,259,156	T397A	probably benign	Het
Slc22a8	T	C	19: 8,610,045	F490L	probably benign	Het
Tbc1d19	A	T	5: 53,856,918	Y296F	probably damaging	Het
Tmppe	T	C	9: 114,404,794	S54P	possibly damaging	Het
Vmn1r123	A	T	7: 21,162,870	N229I	probably benign	Het
Wdr36	T	A	18: 32,854,571		probably null	Het
Wdr47	T	A	3: 108,643,164	M835K	possibly damaging	Het
Wscd2	A	T	5: 113,577,414	K438N	possibly damaging	Het
Xrcc6	T	A	15: 82,016,477		probably null	Het
Xrn1	T	A	9: 96,021,853	F1148I	possibly damaging	Het
Zmynd8	T	C	2: 165,812,426	D722G	probably damaging	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
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
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'- ACTTTAAAAGACAGCTATGCAGGG -3'
(R):5'- AGAAAGCTGACTGACTGAGTTC -3'

Sequencing Primer
(F):5'- GGGAAAGTAAGACCTGTTTCATAAC -3'
(R):5'- CGAAACGACTGAGGCTACTC -3'

Posted On

2019-10-24