Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Clca4b'

715617

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144910921-144932529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144911166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 908 (T908S)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably benign
Transcript: ENSMUST00000098549
AA Change: T908S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: T908S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl3	G	A	13: 58,019,459	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021	D17G	probably benign	Het
Map3k21	T	C	8: 125,924,164	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	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
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
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'- TTTCAGAAAACTTCCGCAACAG -3'
(R):5'- ATTGCCATTGAAAGTGTCGAC -3'

Sequencing Primer
(F):5'- AATATTGGTAGTTTCTCATGGAATGG -3'
(R):5'- TGCCATTGAAAGTGTCGACAAAAAC -3'

Posted On

2022-06-15