Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Clca4b'

258255

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144910921-144932529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144911359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 843 (I843M)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably benign
Transcript: ENSMUST00000098549
AA Change: I843M

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: I843M

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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
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
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
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'- CCTGATGAGGACCTTTTGTTCTTTAAG -3'
(R):5'- GTGTGATGCAATAACTAACCCACAC -3'

Sequencing Primer
(F):5'- TAATACAAACTAGTACAACAGAGCCC -3'
(R):5'- TAACCCACACATAACATTTTTCTCAG -3'

Posted On

2015-01-23