Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00228:Clca4b'

2448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

Accession Numbers

Essential gene?

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

Stock #

IGL00228

Quality Score

Status

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144638152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 37 (I37V)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably benign
Transcript: ENSMUST00000098549
AA Change: I37V

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

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: I37V

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	G	A	13: 104,566,298 (GRCm39)	G731D	possibly damaging	Het
Adgre4	C	T	17: 56,109,135 (GRCm39)	L381F	probably damaging	Het
Baz2a	A	G	10: 127,960,804 (GRCm39)	T1538A	probably benign	Het
C1qtnf6	T	C	15: 78,409,094 (GRCm39)	Y251C	probably damaging	Het
Cgn	T	C	3: 94,672,855 (GRCm39)	N941S	probably benign	Het
Crtc1	T	C	8: 70,892,172 (GRCm39)	K13E	probably benign	Het
Cubn	A	G	2: 13,461,508 (GRCm39)	L673P	probably damaging	Het
Cyp4f18	C	T	8: 72,743,771 (GRCm39)	V395I	probably damaging	Het
Def8	A	G	8: 124,186,389 (GRCm39)	D400G	possibly damaging	Het
Dvl1	A	G	4: 155,938,155 (GRCm39)	D101G	possibly damaging	Het
Fbxw20	T	A	9: 109,063,770 (GRCm39)	M1L	probably damaging	Het
Gad2	C	T	2: 22,575,398 (GRCm39)	H501Y	probably benign	Het
Herc3	C	T	6: 58,851,248 (GRCm39)	P499L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kyat3	G	A	3: 142,432,018 (GRCm39)	V249I	probably damaging	Het
Med28	A	G	5: 45,680,812 (GRCm39)	E92G	probably damaging	Het
Mtcl3	T	A	10: 29,072,469 (GRCm39)	L587*	probably null	Het
Nup155	T	C	15: 8,150,939 (GRCm39)		probably benign	Het
Nxf1	T	C	19: 8,740,106 (GRCm39)	I91T	possibly damaging	Het
Or8g50	T	C	9: 39,648,795 (GRCm39)	I228T	probably damaging	Het
Orc5	T	A	5: 22,728,537 (GRCm39)	T305S	probably damaging	Het
Psme4	T	C	11: 30,765,710 (GRCm39)		probably null	Het
Rtca	A	G	3: 116,298,110 (GRCm39)	C100R	probably damaging	Het
Septin14	G	T	5: 129,760,715 (GRCm39)	H377N	probably benign	Het
Shcbp1l	A	T	1: 153,311,553 (GRCm39)	N258I	possibly damaging	Het
Shisa4	A	C	1: 135,301,023 (GRCm39)	S82R	probably damaging	Het
Slc38a10	C	T	11: 120,029,814 (GRCm39)	V167M	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spata18	G	A	5: 73,815,097 (GRCm39)	E69K	possibly damaging	Het
Srsf2	A	C	11: 116,743,096 (GRCm39)		probably benign	Het
Taf1b	T	A	12: 24,597,066 (GRCm39)	V335E	possibly damaging	Het
Tenm4	G	A	7: 96,517,216 (GRCm39)	V1399I	probably benign	Het
Topbp1	C	T	9: 103,222,142 (GRCm39)	R1338C	probably benign	Het
Ugt1a5	A	G	1: 88,094,162 (GRCm39)	E130G	probably benign	Het
Wdfy2	T	A	14: 63,181,526 (GRCm39)	S219T	probably damaging	Het
Zbtb38	C	A	9: 96,569,547 (GRCm39)	R512S	probably damaging	Het
Zfp574	T	C	7: 24,781,015 (GRCm39)	V679A	probably benign	Het

Other mutations in Clca4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-12-09