Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Clca4b'

25171

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0311 (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 144932496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 2 (M2V)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably benign
Transcript: ENSMUST00000098549
AA Change: M2V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: M2V

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

0.4877

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	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
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
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
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'- ACCTCTACAACCTTCATCTGGAATGTCT -3'
(R):5'- GGCCCTAACTGAACTTCAGGTCACAA -3'

Sequencing Primer
(F):5'- ACCTTCATCTGGAATGTCTTAGAGC -3'
(R):5'- TGCATGTGGCAAACAGACTTG -3'

Posted On

2013-04-16