Mutagenetix > Incidental Mutation

Incidental Mutation 'R9027:Clca4b'

686785

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

068856-MU

Accession Numbers

Essential gene?

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

Stock #

R9027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 144617827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 759 (R759*)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably null
Transcript: ENSMUST00000098549
AA Change: R759*

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: R759*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	C	A	5: 121,640,788 (GRCm39)	E86*	probably null	Het
Ahnak	T	G	19: 8,984,617 (GRCm39)	I1967S	possibly damaging	Het
Alox12e	A	G	11: 70,212,600 (GRCm39)	V83A	possibly damaging	Het
Arhgap20	A	T	9: 51,754,977 (GRCm39)	R439S	probably damaging	Het
Arl1	A	G	10: 88,569,458 (GRCm39)	I20V	probably damaging	Het
Atad2	T	C	15: 57,995,628 (GRCm39)	D93G	probably benign	Het
Btbd7	T	G	12: 102,804,838 (GRCm39)	K67N	probably damaging	Het
C130050O18Rik	A	G	5: 139,400,301 (GRCm39)	N118S	probably benign	Het
Ccz1	A	C	5: 143,946,120 (GRCm39)		probably benign	Het
Cdk19	A	G	10: 40,355,728 (GRCm39)	S479G	unknown	Het
Chrd	A	G	16: 20,555,737 (GRCm39)	T503A	probably damaging	Het
Cpa5	G	T	6: 30,612,604 (GRCm39)	M1I	probably null	Het
Cr2	A	T	1: 194,834,029 (GRCm39)	I920N	probably benign	Het
Crmp1	C	A	5: 37,437,947 (GRCm39)	Y430*	probably null	Het
Dars1	A	T	1: 128,296,163 (GRCm39)	V390D	possibly damaging	Het
Dmtn	A	G	14: 70,853,555 (GRCm39)	S85P	probably damaging	Het
Ermardl1	A	G	17: 15,242,364 (GRCm39)	E416G	unknown	Het
Fancm	C	A	12: 65,122,605 (GRCm39)	D42E	probably damaging	Het
Gabrg3	T	A	7: 56,423,122 (GRCm39)	Y192F	possibly damaging	Het
Gpr3	A	T	4: 132,938,209 (GRCm39)	Y154*	probably null	Het
Huwe1	G	A	X: 150,716,084 (GRCm39)	R4331Q	unknown	Het
Ints5	C	A	19: 8,873,322 (GRCm39)	P427Q	possibly damaging	Het
Jhy	A	T	9: 40,828,823 (GRCm39)	V361D	probably benign	Het
Klhl33	G	A	14: 51,130,322 (GRCm39)	Q131*	probably null	Het
Lama2	A	T	10: 27,080,881 (GRCm39)	C981S	probably damaging	Het
Mks1	C	A	11: 87,748,041 (GRCm39)	L225I	probably damaging	Het
Ms4a20	A	T	19: 11,083,055 (GRCm39)	Y122N	probably damaging	Het
Nfasc	T	A	1: 132,539,343 (GRCm39)	S402C	probably damaging	Het
Or2a57	T	C	6: 43,213,358 (GRCm39)	I272T	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,517 (GRCm39)	Y218F	unknown	Het
Or51g2	T	C	7: 102,622,560 (GRCm39)	D213G	probably damaging	Het
Pbx4	T	A	8: 70,316,999 (GRCm39)	D85E	possibly damaging	Het
Plcd1	T	C	9: 118,913,709 (GRCm39)	T50A	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Psen2	C	A	1: 180,056,972 (GRCm39)	E351*	probably null	Het
Rragd	G	A	4: 32,996,083 (GRCm39)	V143I	probably damaging	Het
Rsph14	A	T	10: 74,795,423 (GRCm39)	M254K	probably damaging	Het
Selenoi	C	T	5: 30,437,607 (GRCm39)		probably benign	Het
Six6	T	C	12: 72,986,935 (GRCm39)	S36P		Het
Slc12a8	T	C	16: 33,445,215 (GRCm39)	S370P	probably benign	Het
Slc25a46	A	G	18: 31,716,432 (GRCm39)	Y357H	probably benign	Het
Socs2	A	T	10: 95,248,948 (GRCm39)	V55D	probably damaging	Het
Socs6	T	C	18: 88,888,852 (GRCm39)	E21G	probably benign	Het
Spata31e4	C	T	13: 50,857,007 (GRCm39)	Q882*	probably null	Het
Speg	A	T	1: 75,365,076 (GRCm39)	T486S	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,165,473 (GRCm39)	K82E	probably damaging	Het
Sugt1	A	G	14: 79,825,155 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,384,440 (GRCm39)	Y1074C	probably damaging	Het
Sytl2	A	G	7: 90,028,748 (GRCm39)	T476A	probably benign	Het
Tbc1d1	T	C	5: 64,414,349 (GRCm39)	S237P	probably benign	Het
Tbc1d5	C	A	17: 51,063,692 (GRCm39)	M629I	probably damaging	Het
Tlr11	G	A	14: 50,598,749 (GRCm39)	G245D	probably damaging	Het
Tspan4	T	C	7: 141,069,577 (GRCm39)	V59A	probably benign	Het
Tulp4	T	A	17: 6,283,472 (GRCm39)	V1167E	possibly damaging	Het
Usp42	G	A	5: 143,708,906 (GRCm39)	T204M	probably damaging	Het
Vapb	A	G	2: 173,617,948 (GRCm39)	K147R	possibly damaging	Het
Vmn1r228	T	C	17: 20,997,422 (GRCm39)	D32G	probably benign	Het
Vmn2r33	A	G	7: 7,554,168 (GRCm39)	F795S	probably damaging	Het
Vmn2r34	A	T	7: 7,675,527 (GRCm39)	N620K	probably damaging	Het
Vwf	G	T	6: 125,643,626 (GRCm39)	C2389F		Het
Wdr81	T	C	11: 75,332,908 (GRCm39)	E652G		Het
Wdr81	A	T	11: 75,343,207 (GRCm39)	S687T	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het

Other mutations in Clca4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Clca4b	APN	3	144,638,152 (GRCm39)	missense	probably benign	0.00
IGL00391:Clca4b	APN	3	144,621,322 (GRCm39)	missense	possibly damaging	0.81
IGL00576:Clca4b	APN	3	144,631,108 (GRCm39)	missense	probably damaging	1.00
IGL01484:Clca4b	APN	3	144,633,996 (GRCm39)	missense	probably benign	0.02
IGL01539:Clca4b	APN	3	144,631,918 (GRCm39)	missense	probably benign
IGL01726:Clca4b	APN	3	144,634,103 (GRCm39)	missense	probably damaging	1.00
IGL01903:Clca4b	APN	3	144,634,020 (GRCm39)	missense	probably damaging	0.98
IGL01967:Clca4b	APN	3	144,633,951 (GRCm39)	splice site	probably benign
IGL02002:Clca4b	APN	3	144,638,194 (GRCm39)	missense	probably benign	0.00
IGL02323:Clca4b	APN	3	144,619,082 (GRCm39)	missense	probably benign
IGL02379:Clca4b	APN	3	144,627,619 (GRCm39)	missense	probably benign	0.00
IGL02638:Clca4b	APN	3	144,631,939 (GRCm39)	missense	probably damaging	1.00
IGL02859:Clca4b	APN	3	144,617,800 (GRCm39)	missense	probably benign
R0110:Clca4b	UTSW	3	144,619,112 (GRCm39)	missense	probably damaging	1.00
R0266:Clca4b	UTSW	3	144,628,547 (GRCm39)	missense	probably damaging	1.00
R0311:Clca4b	UTSW	3	144,638,257 (GRCm39)	missense	probably benign	0.04
R0348:Clca4b	UTSW	3	144,627,741 (GRCm39)	missense	probably damaging	0.96
R0450:Clca4b	UTSW	3	144,619,112 (GRCm39)	missense	probably damaging	1.00
R0510:Clca4b	UTSW	3	144,619,112 (GRCm39)	missense	probably damaging	1.00
R0538:Clca4b	UTSW	3	144,627,717 (GRCm39)	missense	probably benign	0.15
R0551:Clca4b	UTSW	3	144,634,387 (GRCm39)	missense	probably damaging	1.00
R0552:Clca4b	UTSW	3	144,622,536 (GRCm39)	missense	probably benign
R0570:Clca4b	UTSW	3	144,631,110 (GRCm39)	missense	probably benign	0.01
R0591:Clca4b	UTSW	3	144,621,353 (GRCm39)	nonsense	probably null
R0627:Clca4b	UTSW	3	144,634,020 (GRCm39)	missense	probably benign	0.20
R0729:Clca4b	UTSW	3	144,634,111 (GRCm39)	splice site	probably benign
R0844:Clca4b	UTSW	3	144,622,532 (GRCm39)	missense	probably damaging	0.96
R0964:Clca4b	UTSW	3	144,621,337 (GRCm39)	missense	probably benign
R1388:Clca4b	UTSW	3	144,622,415 (GRCm39)	missense	probably benign
R1479:Clca4b	UTSW	3	144,621,229 (GRCm39)	missense	probably damaging	0.99
R1603:Clca4b	UTSW	3	144,627,780 (GRCm39)	missense	probably benign	0.20
R2045:Clca4b	UTSW	3	144,630,924 (GRCm39)	missense	probably damaging	1.00
R2162:Clca4b	UTSW	3	144,634,348 (GRCm39)	missense	probably benign	0.19
R2185:Clca4b	UTSW	3	144,634,317 (GRCm39)	missense	probably damaging	1.00
R2241:Clca4b	UTSW	3	144,616,987 (GRCm39)	missense	probably benign	0.00
R2300:Clca4b	UTSW	3	144,622,432 (GRCm39)	missense	probably benign	0.02
R2321:Clca4b	UTSW	3	144,638,134 (GRCm39)	missense	probably benign	0.00
R2359:Clca4b	UTSW	3	144,631,003 (GRCm39)	missense	probably damaging	0.96
R3105:Clca4b	UTSW	3	144,622,432 (GRCm39)	missense	probably benign	0.02
R3151:Clca4b	UTSW	3	144,621,272 (GRCm39)	missense	probably benign	0.05
R3158:Clca4b	UTSW	3	144,617,878 (GRCm39)	missense	probably benign	0.04
R3177:Clca4b	UTSW	3	144,617,120 (GRCm39)	missense	probably benign	0.15
R3277:Clca4b	UTSW	3	144,617,120 (GRCm39)	missense	probably benign	0.15
R3981:Clca4b	UTSW	3	144,631,797 (GRCm39)	missense	probably benign	0.27
R4601:Clca4b	UTSW	3	144,632,945 (GRCm39)	missense	possibly damaging	0.81
R4646:Clca4b	UTSW	3	144,634,286 (GRCm39)	missense	probably benign	0.00
R4647:Clca4b	UTSW	3	144,634,286 (GRCm39)	missense	probably benign	0.00
R4696:Clca4b	UTSW	3	144,617,146 (GRCm39)	missense	probably benign	0.00
R4893:Clca4b	UTSW	3	144,630,934 (GRCm39)	missense	possibly damaging	0.67
R4998:Clca4b	UTSW	3	144,621,269 (GRCm39)	missense	probably benign	0.00
R5053:Clca4b	UTSW	3	144,616,882 (GRCm39)	missense	probably benign	0.01
R5060:Clca4b	UTSW	3	144,617,267 (GRCm39)	missense	probably damaging	1.00
R5319:Clca4b	UTSW	3	144,630,940 (GRCm39)	missense	possibly damaging	0.85
R5409:Clca4b	UTSW	3	144,622,452 (GRCm39)	nonsense	probably null
R5534:Clca4b	UTSW	3	144,621,227 (GRCm39)	missense	probably damaging	1.00
R5578:Clca4b	UTSW	3	144,638,196 (GRCm39)	missense	probably benign	0.04
R5667:Clca4b	UTSW	3	144,627,624 (GRCm39)	missense	probably benign
R5671:Clca4b	UTSW	3	144,627,624 (GRCm39)	missense	probably benign
R5715:Clca4b	UTSW	3	144,619,018 (GRCm39)	missense	probably benign	0.01
R5875:Clca4b	UTSW	3	144,628,650 (GRCm39)	missense	probably benign	0.38
R5876:Clca4b	UTSW	3	144,617,821 (GRCm39)	missense	possibly damaging	0.91
R6122:Clca4b	UTSW	3	144,631,927 (GRCm39)	missense	possibly damaging	0.67
R6294:Clca4b	UTSW	3	144,630,946 (GRCm39)	missense	probably null
R6408:Clca4b	UTSW	3	144,625,036 (GRCm39)	missense	probably benign	0.00
R6418:Clca4b	UTSW	3	144,633,996 (GRCm39)	missense	probably benign	0.02
R6458:Clca4b	UTSW	3	144,617,088 (GRCm39)	missense	possibly damaging	0.77
R6536:Clca4b	UTSW	3	144,622,490 (GRCm39)	missense	possibly damaging	0.66
R6567:Clca4b	UTSW	3	144,638,100 (GRCm39)	missense	possibly damaging	0.96
R6781:Clca4b	UTSW	3	144,628,562 (GRCm39)	missense	probably benign
R6799:Clca4b	UTSW	3	144,621,388 (GRCm39)	splice site	probably null
R7046:Clca4b	UTSW	3	144,621,367 (GRCm39)	missense	probably damaging	1.00
R7365:Clca4b	UTSW	3	144,628,529 (GRCm39)	missense	not run
R7431:Clca4b	UTSW	3	144,616,894 (GRCm39)	missense	probably benign	0.28
R7462:Clca4b	UTSW	3	144,628,621 (GRCm39)	missense	probably benign	0.00
R7611:Clca4b	UTSW	3	144,627,757 (GRCm39)	missense	probably benign	0.03
R7806:Clca4b	UTSW	3	144,638,157 (GRCm39)	missense	probably benign	0.01
R7918:Clca4b	UTSW	3	144,619,033 (GRCm39)	missense	probably damaging	0.99
R7962:Clca4b	UTSW	3	144,622,421 (GRCm39)	missense	possibly damaging	0.63
R7990:Clca4b	UTSW	3	144,634,103 (GRCm39)	missense	probably damaging	1.00
R8198:Clca4b	UTSW	3	144,638,167 (GRCm39)	missense	probably damaging	1.00
R8327:Clca4b	UTSW	3	144,627,762 (GRCm39)	missense	possibly damaging	0.75
R8370:Clca4b	UTSW	3	144,631,824 (GRCm39)	missense	probably damaging	1.00
R8434:Clca4b	UTSW	3	144,631,917 (GRCm39)	missense	probably benign	0.00
R8493:Clca4b	UTSW	3	144,617,911 (GRCm39)	missense	probably benign
R9211:Clca4b	UTSW	3	144,638,214 (GRCm39)	missense	possibly damaging	0.95
R9371:Clca4b	UTSW	3	144,631,845 (GRCm39)	missense	possibly damaging	0.92
R9400:Clca4b	UTSW	3	144,616,953 (GRCm39)	missense	probably benign	0.00
R9446:Clca4b	UTSW	3	144,638,134 (GRCm39)	missense	probably benign	0.01
R9474:Clca4b	UTSW	3	144,616,927 (GRCm39)	missense	probably benign	0.04
R9479:Clca4b	UTSW	3	144,617,100 (GRCm39)	missense	probably benign	0.44
R9493:Clca4b	UTSW	3	144,632,964 (GRCm39)	missense	probably damaging	1.00
R9730:Clca4b	UTSW	3	144,632,979 (GRCm39)	missense	probably damaging	1.00
R9733:Clca4b	UTSW	3	144,621,272 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTTGTCAGTCATAAGTCCTCTCC -3'
(R):5'- CAGGAAGCTGACTGATTGAGTTC -3'

Sequencing Primer
(F):5'- AGTCATAAGTCCTCTCCTCTCACTG -3'
(R):5'- AGCTGACTGATTGAGTTCTAAAAAG -3'

Posted On

2021-11-19