Mutagenetix > Incidental Mutation

Incidental Mutation 'R9373:Clca4a'

709427

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R9373 (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 144966372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 270 (N270Y)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029923
AA Change: N270Y

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: N270Y

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

0.4889

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
2310003L06Rik	A	C	5: 87,972,809	D475A	probably benign	Het
3110043O21Rik	A	G	4: 35,196,985	F360S		Het
Aatk	T	C	11: 120,015,517	M243V	possibly damaging	Het
Acox1	A	T	11: 116,174,347	N627K	possibly damaging	Het
Adal	A	G	2: 121,150,222	Y142C	probably benign	Het
Agfg2	A	G	5: 137,664,214		probably null	Het
Ajap1	C	T	4: 153,432,213	A224T	probably benign	Het
Alg1	T	C	16: 5,239,126	F234L	probably benign	Het
Arhgap27	G	T	11: 103,360,461	A147E	possibly damaging	Het
Cachd1	T	C	4: 100,974,870	V743A	possibly damaging	Het
Cc2d2b	G	A	19: 40,795,723	V655I	unknown	Het
Cd72	T	C	4: 43,450,141	S256G	possibly damaging	Het
Celf2	G	T	2: 6,547,104	N521K	probably benign	Het
Clvs2	A	T	10: 33,528,386	V278E	probably benign	Het
Cwf19l2	T	C	9: 3,454,718	F677S	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Dyx1c1	A	G	9: 72,964,180	T241A	probably damaging	Het
Epdr1	T	C	13: 19,594,537	N130D	possibly damaging	Het
Fam184a	G	A	10: 53,690,019	R491W	probably benign	Het
Fam71e2	T	C	7: 4,757,713	M667V		Het
Foxp2	A	G	6: 15,377,970	Q160R	unknown	Het
Fstl5	T	A	3: 76,648,362	Y515*	probably null	Het
Helz2	G	T	2: 181,240,948	N17K	probably benign	Het
Jmjd1c	C	T	10: 67,096,716		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Lrrn1	A	C	6: 107,568,504	Q421P	possibly damaging	Het
Mapk1	A	G	16: 17,018,290	I101V	probably benign	Het
Me2	T	C	18: 73,785,729	E427G	probably damaging	Het
Mrc1	G	A	2: 14,270,188	M433I	probably damaging	Het
Mrvi1	A	G	7: 110,945,831		probably null	Het
Nelfb	G	A	2: 25,205,206	R324W	probably damaging	Het
Nlrp4b	T	A	7: 10,715,199	I443K	probably benign	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1012	A	T	2: 85,759,931	Y148*	probably null	Het
Olfr1474	A	G	19: 13,471,852	E294G	probably damaging	Het
Olfr877	T	A	9: 37,855,454	V212D	probably damaging	Het
Olfr914	G	A	9: 38,606,846	C127Y	possibly damaging	Het
Parvb	C	T	15: 84,303,899	T281I	probably damaging	Het
Prune2	A	G	19: 17,122,138	T1669A	probably benign	Het
Runx3	A	G	4: 135,121,145	T14A	probably benign	Het
Scn9a	A	G	2: 66,483,917	V1819A	probably benign	Het
Senp1	T	C	15: 98,066,554	T260A	probably benign	Het
Serpinb10	A	G	1: 107,547,019	R304G	possibly damaging	Het
Spem1	C	T	11: 69,821,814	C65Y	probably benign	Het
Tdrd6	A	G	17: 43,628,162	V665A	possibly damaging	Het
Tenm2	C	T	11: 36,039,886	A1772T	probably damaging	Het
Tenm3	C	T	8: 48,299,655	V891I	probably damaging	Het
Trank1	A	G	9: 111,365,191	D761G	probably benign	Het
Ubap2l	A	T	3: 90,008,280	Y985N	unknown	Het
Vwc2l	A	T	1: 70,729,059	H94L	probably damaging	Het
Wdr27	G	A	17: 14,934,533	H41Y	probably benign	Het
Zcchc6	T	C	13: 59,796,867	S1053G	probably damaging	Het
Zfp7	AGTGCGGGAAAGGTTTCCACCTG	AG	15: 76,890,598		probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		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
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
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'- CGAGCCCAGGAACTTACAGT -3'
(R):5'- CATTCAATATATGTATGGGCATGCAT -3'

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

Posted On

2022-04-18