Mutagenetix > Incidental Mutation

Incidental Mutation 'R1388:Clca4b'

162484

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

039450-MU

Accession Numbers

Essential gene?

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

Stock #

R1388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144622415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 550 (V550D)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably benign
Transcript: ENSMUST00000098549
AA Change: V550D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: V550D

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

98% (47/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	T	G	12: 84,105,761 (GRCm39)	H409Q	possibly damaging	Het
Adgra1	T	C	7: 139,453,919 (GRCm39)	V152A	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Ccdc174	C	A	6: 91,858,225 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,417,702 (GRCm39)		probably benign	Het
Dab2ip	C	T	2: 35,611,268 (GRCm39)		probably benign	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm2959	A	T	14: 42,235,660 (GRCm39)		noncoding transcript	Het
Gmnc	A	G	16: 26,782,662 (GRCm39)	L80P	probably damaging	Het
Gtf2ird1	T	C	5: 134,424,564 (GRCm39)	D394G	probably damaging	Het
Heatr1	T	C	13: 12,432,328 (GRCm39)		probably benign	Het
Il1a	T	C	2: 129,148,501 (GRCm39)	S70G	possibly damaging	Het
Kctd19	T	C	8: 106,118,683 (GRCm39)	S293G	probably null	Het
Klra4	T	C	6: 130,039,198 (GRCm39)		probably benign	Het
Kplce	G	T	3: 92,776,356 (GRCm39)	T109K	probably damaging	Het
Mr1	T	C	1: 155,008,249 (GRCm39)	E242G	probably damaging	Het
Mrnip	C	A	11: 50,087,772 (GRCm39)	A98E	probably benign	Het
Mybpc3	C	T	2: 90,953,219 (GRCm39)	P155S	probably benign	Het
Myh14	A	T	7: 44,314,546 (GRCm39)	Y126N	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or10g9	A	G	9: 39,911,948 (GRCm39)	S192P	probably damaging	Het
Or10j3	T	C	1: 173,031,445 (GRCm39)	V174A	probably benign	Het
Pnisr	T	C	4: 21,862,041 (GRCm39)	M243T	possibly damaging	Het
Ptprr	A	G	10: 116,109,657 (GRCm39)	S633G	probably benign	Het
Rasip1	T	A	7: 45,279,656 (GRCm39)	S300T	probably damaging	Het
Sbsn	A	T	7: 30,451,576 (GRCm39)	H197L	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sim1	T	A	10: 50,772,090 (GRCm39)	I33N	probably damaging	Het
Speg	A	G	1: 75,407,104 (GRCm39)	D2878G	probably damaging	Het
Taf2	T	A	15: 54,900,021 (GRCm39)	N864I	probably benign	Het
Tmem43	G	T	6: 91,455,785 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,542,135 (GRCm39)	E25290G	probably damaging	Het
Ush2a	A	G	1: 188,255,515 (GRCm39)		probably benign	Het
Usp53	T	C	3: 122,751,277 (GRCm39)	E260G	probably damaging	Het
Vmn2r12	T	G	5: 109,240,840 (GRCm39)	Y91S	possibly damaging	Het
Vmn2r59	A	T	7: 41,695,133 (GRCm39)	N426K	probably benign	Het
Whamm	C	A	7: 81,236,038 (GRCm39)	L414I	probably damaging	Het
Zfhx4	A	G	3: 5,466,447 (GRCm39)	T2227A	probably damaging	Het
Zfp866	C	T	8: 70,218,834 (GRCm39)	R262Q	probably benign	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
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
R9027:Clca4b	UTSW	3	144,617,827 (GRCm39)	nonsense	probably null
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'- AAAGATGACATGCCAGGTCACCAG -3'
(R):5'- TGTCACAAGCCAAGAAGCCTTCAG -3'

Sequencing Primer
(F):5'- TTATAGCTCTCAGGATCACACAGG -3'
(R):5'- GCCTTCAGAAAGTTGGCAAATC -3'

Posted On

2014-03-17