Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00391:Clca4b'

6741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

144910921-144932529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144915561 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 584 (V584A)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098549]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098549
AA Change: V584A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: V584A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	306	480	1.03e-15	SMART
Blast:VWA	513	552	6e-16	BLAST
Blast:FN3	757	838	5e-35	BLAST
low complexity region	882	906	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozyogus mutant null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,724,224	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,821,542	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,337,933		probably benign	Het
Ccr5	T	A	9: 124,124,406	D15E	possibly damaging	Het
Cmtr1	T	C	17: 29,674,262	M85T	probably damaging	Het
Col6a3	T	A	1: 90,828,255	H104L	probably damaging	Het
Coq9	A	T	8: 94,850,517	K170M	probably damaging	Het
Elmod1	A	G	9: 53,924,398		probably null	Het
Fam47e	A	C	5: 92,579,663	E143D	probably damaging	Het
Faxc	A	G	4: 21,948,725	K146E	probably damaging	Het
Gm5346	A	T	8: 43,625,629	F519L	probably damaging	Het
Hrasls5	A	T	19: 7,619,266		probably benign	Het
Myo7b	A	C	18: 32,021,556		probably benign	Het
Nmur1	G	A	1: 86,386,471	R381C	probably damaging	Het
Nsd2	T	G	5: 33,855,733	D469E	probably damaging	Het
Osbpl6	G	A	2: 76,590,439	C786Y	probably damaging	Het
Osgin2	T	C	4: 16,006,439	Y85C	probably damaging	Het
Otof	A	G	5: 30,375,623	C1587R	probably damaging	Het
Plekha2	A	G	8: 25,057,327	V247A	probably damaging	Het
Plppr5	A	T	3: 117,671,943	N281I	possibly damaging	Het
Popdc3	A	G	10: 45,317,826		probably null	Het
Ppp1r12a	A	G	10: 108,198,848	N85D	probably damaging	Het
Serpinb8	A	G	1: 107,606,984	S262G	probably benign	Het
Sspo	G	A	6: 48,497,386	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,916,061	E4621G	probably damaging	Het

Other mutations in Clca4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Clca4b	APN	3	144932391	missense	probably benign	0.00
IGL00576:Clca4b	APN	3	144925347	missense	probably damaging	1.00
IGL01484:Clca4b	APN	3	144928235	missense	probably benign	0.02
IGL01539:Clca4b	APN	3	144926157	missense	probably benign
IGL01726:Clca4b	APN	3	144928342	missense	probably damaging	1.00
IGL01903:Clca4b	APN	3	144928259	missense	probably damaging	0.98
IGL01967:Clca4b	APN	3	144928190	splice site	probably benign
IGL02002:Clca4b	APN	3	144932433	missense	probably benign	0.00
IGL02323:Clca4b	APN	3	144913321	missense	probably benign
IGL02379:Clca4b	APN	3	144921858	missense	probably benign	0.00
IGL02638:Clca4b	APN	3	144926178	missense	probably damaging	1.00
IGL02859:Clca4b	APN	3	144912039	missense	probably benign
R0110:Clca4b	UTSW	3	144913351	missense	probably damaging	1.00
R0266:Clca4b	UTSW	3	144922786	missense	probably damaging	1.00
R0311:Clca4b	UTSW	3	144932496	missense	probably benign	0.04
R0348:Clca4b	UTSW	3	144921980	missense	probably damaging	0.96
R0450:Clca4b	UTSW	3	144913351	missense	probably damaging	1.00
R0510:Clca4b	UTSW	3	144913351	missense	probably damaging	1.00
R0538:Clca4b	UTSW	3	144921956	missense	probably benign	0.15
R0551:Clca4b	UTSW	3	144928626	missense	probably damaging	1.00
R0552:Clca4b	UTSW	3	144916775	missense	probably benign
R0570:Clca4b	UTSW	3	144925349	missense	probably benign	0.01
R0591:Clca4b	UTSW	3	144915592	nonsense	probably null
R0627:Clca4b	UTSW	3	144928259	missense	probably benign	0.20
R0729:Clca4b	UTSW	3	144928350	splice site	probably benign
R0844:Clca4b	UTSW	3	144916771	missense	probably damaging	0.96
R0964:Clca4b	UTSW	3	144915576	missense	probably benign
R1388:Clca4b	UTSW	3	144916654	missense	probably benign
R1479:Clca4b	UTSW	3	144915468	missense	probably damaging	0.99
R1603:Clca4b	UTSW	3	144922019	missense	probably benign	0.20
R2045:Clca4b	UTSW	3	144925163	missense	probably damaging	1.00
R2162:Clca4b	UTSW	3	144928587	missense	probably benign	0.19
R2185:Clca4b	UTSW	3	144928556	missense	probably damaging	1.00
R2241:Clca4b	UTSW	3	144911226	missense	probably benign	0.00
R2300:Clca4b	UTSW	3	144916671	missense	probably benign	0.02
R2321:Clca4b	UTSW	3	144932373	missense	probably benign	0.00
R2359:Clca4b	UTSW	3	144925242	missense	probably damaging	0.96
R3105:Clca4b	UTSW	3	144916671	missense	probably benign	0.02
R3151:Clca4b	UTSW	3	144915511	missense	probably benign	0.05
R3158:Clca4b	UTSW	3	144912117	missense	probably benign	0.04
R3177:Clca4b	UTSW	3	144911359	missense	probably benign	0.15
R3277:Clca4b	UTSW	3	144911359	missense	probably benign	0.15
R3981:Clca4b	UTSW	3	144926036	missense	probably benign	0.27
R4601:Clca4b	UTSW	3	144927184	missense	possibly damaging	0.81
R4646:Clca4b	UTSW	3	144928525	missense	probably benign	0.00
R4647:Clca4b	UTSW	3	144928525	missense	probably benign	0.00
R4696:Clca4b	UTSW	3	144911385	missense	probably benign	0.00
R4893:Clca4b	UTSW	3	144925173	missense	possibly damaging	0.67
R4998:Clca4b	UTSW	3	144915508	missense	probably benign	0.00
R5053:Clca4b	UTSW	3	144911121	missense	probably benign	0.01
R5060:Clca4b	UTSW	3	144911506	missense	probably damaging	1.00
R5319:Clca4b	UTSW	3	144925179	missense	possibly damaging	0.85
R5409:Clca4b	UTSW	3	144916691	nonsense	probably null
R5534:Clca4b	UTSW	3	144915466	missense	probably damaging	1.00
R5578:Clca4b	UTSW	3	144932435	missense	probably benign	0.04
R5667:Clca4b	UTSW	3	144921863	missense	probably benign
R5671:Clca4b	UTSW	3	144921863	missense	probably benign
R5715:Clca4b	UTSW	3	144913257	missense	probably benign	0.01
R5875:Clca4b	UTSW	3	144922889	missense	probably benign	0.38
R5876:Clca4b	UTSW	3	144912060	missense	possibly damaging	0.91
R6122:Clca4b	UTSW	3	144926166	missense	possibly damaging	0.67
R6294:Clca4b	UTSW	3	144925185	missense	probably null
R6408:Clca4b	UTSW	3	144919275	missense	probably benign	0.00
R6418:Clca4b	UTSW	3	144928235	missense	probably benign	0.02
R6458:Clca4b	UTSW	3	144911327	missense	possibly damaging	0.77
R6536:Clca4b	UTSW	3	144916729	missense	possibly damaging	0.66
R6567:Clca4b	UTSW	3	144932339	missense	possibly damaging	0.96
R6781:Clca4b	UTSW	3	144922801	missense	probably benign
R6799:Clca4b	UTSW	3	144915627	splice site	probably null
R7046:Clca4b	UTSW	3	144915606	missense	probably damaging	1.00
R7365:Clca4b	UTSW	3	144922768	missense	not run
R7431:Clca4b	UTSW	3	144911133	missense	probably benign	0.28
R7462:Clca4b	UTSW	3	144922860	missense	probably benign	0.00
R7611:Clca4b	UTSW	3	144921996	missense	probably benign	0.03
R7806:Clca4b	UTSW	3	144932396	missense	probably benign	0.01
R7918:Clca4b	UTSW	3	144913272	missense	probably damaging	0.99
R7962:Clca4b	UTSW	3	144916660	missense	possibly damaging	0.63
R7990:Clca4b	UTSW	3	144928342	missense	probably damaging	1.00
R8198:Clca4b	UTSW	3	144932406	missense	probably damaging	1.00
R8327:Clca4b	UTSW	3	144922001	missense	possibly damaging	0.75
R8370:Clca4b	UTSW	3	144926063	missense	probably damaging	1.00
R8434:Clca4b	UTSW	3	144926156	missense	probably benign	0.00
R8493:Clca4b	UTSW	3	144912150	missense	probably benign

Posted On

2012-04-20