Mutagenetix > Incidental Mutation

Incidental Mutation 'R1137:Clca4a'

95128

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

MMRRC Submission

039210-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144970685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

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: V78A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: V78A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 44,250,832	S54T	probably benign	Het
Ahdc1	A	G	4: 133,062,113	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Cep250	A	G	2: 155,990,840	K1561E	probably benign	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Clec4n	G	A	6: 123,246,567	M170I	possibly damaging	Het
Cp	G	T	3: 19,978,952	A648S	probably benign	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dnah8	A	G	17: 30,855,936	D4543G	probably damaging	Het
Elp3	A	G	14: 65,547,921	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,908,223	S245P	probably benign	Het
Fkbp9	G	T	6: 56,860,697	G312V	probably damaging	Het
Htr4	A	G	18: 62,437,553	I226M	probably damaging	Het
Impa2	G	A	18: 67,318,427	V264I	probably benign	Het
Kif20b	T	C	19: 34,937,086		probably null	Het
Kmt2c	C	A	5: 25,310,983	V2621F	possibly damaging	Het
Lif	A	G	11: 4,269,237	D172G	probably damaging	Het
Llgl1	C	A	11: 60,704,733	H82N	probably benign	Het
Lrwd1	T	C	5: 136,133,419	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511	I1078N	probably damaging	Het
Muc1	A	T	3: 89,230,438	T196S	probably benign	Het
Myh7b	T	C	2: 155,622,714	L657P	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,487,671	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,241,160	T125A	probably damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,293,011	R125C	probably damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tigit	G	T	16: 43,649,122	T202N	probably benign	Het
Tmem132b	C	T	5: 125,783,542	A617V	possibly damaging	Het
Tpm1	T	C	9: 67,031,118		probably null	Het
Ubr3	A	G	2: 69,938,315		probably benign	Het
Vcan	T	A	13: 89,704,303	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,323,236	N134H	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
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
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'- GGTGCCACTTTAATGTCAGCCTGAG -3'
(R):5'- TGCTGAGGAATGAGCCTGATGC -3'

Sequencing Primer
(F):5'- TGTCAGCCTGAGAATGTTTAAAAAG -3'
(R):5'- CATGGCTCCTTTTGTAGTAACAG -3'

Posted On

2014-01-05