Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Clca4b'

405968

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

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

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144910921-144932529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144925179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 307 (R307G)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098549
AA Change: R307G

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: R307G

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

Meta Mutation Damage Score

0.6397

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	probably benign	Het

Other mutations in Clca4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Clca4b	APN	3	144932391	missense	probably benign	0.00
IGL00391:Clca4b	APN	3	144915561	missense	possibly damaging	0.81
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
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
R9027:Clca4b	UTSW	3	144912066	nonsense	probably null
R9211:Clca4b	UTSW	3	144932453	missense	possibly damaging	0.95
R9371:Clca4b	UTSW	3	144926084	missense	possibly damaging	0.92
R9400:Clca4b	UTSW	3	144911192	missense	probably benign	0.00
R9446:Clca4b	UTSW	3	144932373	missense	probably benign	0.01
R9474:Clca4b	UTSW	3	144911166	missense	probably benign	0.04
R9479:Clca4b	UTSW	3	144911339	missense	probably benign	0.44
R9493:Clca4b	UTSW	3	144927203	missense	probably damaging	1.00
R9730:Clca4b	UTSW	3	144927218	missense	probably damaging	1.00
R9733:Clca4b	UTSW	3	144915511	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TACTTAGGTAGGTGAAGCTGAGAC -3'
(R):5'- ACTACACTTTTAGGTGACTGAGTTCTG -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CCAATGGAGAAGCACTTG -3'

Posted On

2016-07-22