Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Clca4a'

422546

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

MMRRC Submission

042924-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144970461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 104 (D104A)

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: D104A

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

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: D104A

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

probably damaging
Transcript: ENSMUST00000075496
AA Change: D103A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074939
Gene: ENSMUSG00000068547
AA Change: D103A

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	1	263	1e-141	PFAM
low complexity region	285	299	N/A	INTRINSIC
VWA	305	470	4.45e-2	SMART
Blast:FN3	675	756	8e-33	BLAST
transmembrane domain	808	830	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198898

Meta Mutation Damage Score

0.5117

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	C	T	18: 12,179,177	T158M	probably benign	Het
Abl1	T	A	2: 31,797,047	S519T	probably damaging	Het
Acap2	A	G	16: 31,108,126	S524P	probably benign	Het
Acot1	T	A	12: 84,017,168	I350N	probably damaging	Het
Adam8	A	G	7: 139,987,639	V397A	probably benign	Het
Ankar	A	G	1: 72,670,151	M735T	possibly damaging	Het
B020031M17Rik	A	T	13: 119,949,848	V74E	probably damaging	Het
Cacna1c	A	G	6: 118,656,536		probably null	Het
Cdc25b	A	G	2: 131,192,596	S222G	probably benign	Het
Celsr3	T	C	9: 108,832,124	S1390P	probably damaging	Het
Clcn6	A	T	4: 148,038,749		probably benign	Het
Coq8b	A	G	7: 27,250,348	T320A	probably benign	Het
Cspg5	A	T	9: 110,246,630	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,626,232	I284F	probably benign	Het
Eya4	T	C	10: 23,110,048	I565V	probably benign	Het
Fbxw11	A	G	11: 32,738,471	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,626,809	A448V	possibly damaging	Het
Gm11487	A	T	4: 73,401,277	W77R	probably damaging	Het
Hectd4	A	G	5: 121,263,974	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,672,783	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,723,066	T139A	probably benign	Het
L1td1	G	A	4: 98,736,447	G293D	probably damaging	Het
Lama1	A	G	17: 67,817,563	M2873V	probably benign	Het
Myo15	A	G	11: 60,497,538	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,328,210		probably null	Het
Ndufb4	A	G	16: 37,654,178		probably null	Het
Nup153	A	T	13: 46,686,865	L1089*	probably null	Het
Olfr1107	A	G	2: 87,071,492	V214A	possibly damaging	Het
Olfr1512	G	A	14: 52,372,268	R262*	probably null	Het
Olfr168	T	A	16: 19,530,777	I48F	probably damaging	Het
P2rx1	A	G	11: 73,009,230	T158A	probably damaging	Het
Park7	A	G	4: 150,908,423		probably benign	Het
Parl	A	T	16: 20,298,142	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,849,969	H720L	probably benign	Het
Ptpn4	A	G	1: 119,765,477	S140P	probably benign	Het
Rel	A	G	11: 23,742,462	S524P	probably benign	Het
Ripply2	A	G	9: 87,019,726		probably null	Het
Rps4l-ps	T	C	7: 114,927,198		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,932,470	L81P	probably damaging	Het
Sap130	T	C	18: 31,648,198	L138P	probably benign	Het
Scp2	A	T	4: 108,055,579		probably null	Het
Sec24c	T	A	14: 20,693,220	M970K	probably benign	Het
Setd5	C	T	6: 113,116,007	P340L	probably damaging	Het
Sgcg	A	T	14: 61,245,769	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,400,518	R21G	probably benign	Het
Slc7a14	A	C	3: 31,223,857	L533W	probably damaging	Het
Srsf9	A	G	5: 115,330,536	D77G	probably benign	Het
Tab1	A	T	15: 80,149,813	E119V	possibly damaging	Het
Tnrc6c	C	T	11: 117,723,287	A757V	possibly damaging	Het
Tradd	A	T	8: 105,259,924	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,113,847	T51M	probably benign	Het
Tsga10	T	C	1: 37,763,311	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,728,918	D47G	probably damaging	Het
Zfp647	T	A	15: 76,911,495	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,588,121	S583A	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
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'- TACGTGTCACAAACATGCAATGC -3'
(R):5'- TAATTCCTGAGAGTTGGAAAGACAG -3'

Sequencing Primer
(F):5'- TGCAATGCTTTAACCAAATTCCC -3'
(R):5'- GTTGGAAAGACAGTCCCCAGTAC -3'

Posted On

2016-08-04