Mutagenetix > Incidental Mutation

Incidental Mutation 'R2241:Clca4b'

240656

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

040241-MU

Accession Numbers

Essential gene?

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

Stock #

R2241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144616987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 888 (S888T)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably benign
Transcript: ENSMUST00000098549
AA Change: S888T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: S888T

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	G	T	15: 64,571,230 (GRCm39)	L1138I	possibly damaging	Het
Aftph	T	C	11: 20,676,328 (GRCm39)	D427G	possibly damaging	Het
Cep350	C	T	1: 155,834,302 (GRCm39)		probably null	Het
Cyb5b	A	G	8: 107,897,045 (GRCm39)	D105G	probably benign	Het
Ddx20	A	C	3: 105,590,521 (GRCm39)	Y258*	probably null	Het
Farp2	C	T	1: 93,507,625 (GRCm39)	T441I	probably benign	Het
Fzd6	G	T	15: 38,894,931 (GRCm39)	A366S	probably damaging	Het
Gpr149	A	G	3: 62,511,474 (GRCm39)	V175A	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga4	T	A	2: 79,131,357 (GRCm39)	I575N	probably damaging	Het
Kcnj14	C	T	7: 45,469,325 (GRCm39)	R60H	probably benign	Het
Lrch3	A	G	16: 32,816,211 (GRCm39)	T151A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mterf2	T	C	10: 84,956,180 (GRCm39)	N148S	possibly damaging	Het
Nae1	A	C	8: 105,246,420 (GRCm39)	D268E	probably benign	Het
Or5p5	T	C	7: 107,414,040 (GRCm39)	V83A	possibly damaging	Het
Or6c211	G	A	10: 129,505,764 (GRCm39)	T208I	probably damaging	Het
Or8b48	A	G	9: 38,493,101 (GRCm39)	H176R	probably damaging	Het
Pcnx4	T	C	12: 72,620,928 (GRCm39)	L916P	probably damaging	Het
Prune2	T	A	19: 17,100,456 (GRCm39)	Y1987N	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,631,737 (GRCm39)	L2096P	probably damaging	Het
Serpina3m	G	A	12: 104,355,708 (GRCm39)	S125N	probably benign	Het
Tep1	G	C	14: 51,091,667 (GRCm39)	R625G	probably benign	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Wdfy4	A	T	14: 32,795,468 (GRCm39)	N2091K	possibly damaging	Het
Yme1l1	C	T	2: 23,086,912 (GRCm39)	R673*	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
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'- CTCATGGAATGGGTGTGATTAAAG -3'
(R):5'- CGGGTTGATACTACTAAACTTACAC -3'

Sequencing Primer
(F):5'- ACCCTCTTGAAATGATATTTGAGTTC -3'
(R):5'- AGAAACCTTTGCCTTTAAACCAG -3'

Posted On

2014-10-15