Mutagenetix > Incidental Mutation

Incidental Mutation 'R7962:Clca4b'

650154

Institutional Source

Beutler Lab

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 #

R7962 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144622421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 548 (D548G)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098549
AA Change: D548G

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: D548G

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,428 (GRCm39)	F991L	probably damaging	Het
Ahnak	A	G	19: 8,990,164 (GRCm39)	D3816G	unknown	Het
Arhgdig	T	C	17: 26,418,608 (GRCm39)	T153A	probably damaging	Het
Ash2l	T	C	8: 26,329,792 (GRCm39)	D122G	probably damaging	Het
Bora	A	G	14: 99,310,162 (GRCm39)	K497R	probably benign	Het
Btbd9	T	C	17: 30,736,177 (GRCm39)	H312R	probably damaging	Het
Cbr2	T	C	11: 120,620,609 (GRCm39)	D225G	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap70	G	A	14: 20,486,854 (GRCm39)	T275M	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyp3a44	T	A	5: 145,738,135 (GRCm39)	I57L	probably benign	Het
Dbx2	C	T	15: 95,552,199 (GRCm39)	G149S	probably benign	Het
Dennd2a	A	G	6: 39,457,207 (GRCm39)	V745A	possibly damaging	Het
Dock10	A	T	1: 80,564,085 (GRCm39)	S509R	possibly damaging	Het
Enpp3	T	C	10: 24,660,752 (GRCm39)	Y630C	probably damaging	Het
Eomes	C	T	9: 118,307,574 (GRCm39)		probably benign	Het
Fchsd1	A	T	18: 38,097,212 (GRCm39)	V385E	probably damaging	Het
Flg	A	T	3: 93,193,984 (GRCm39)	H34L	unknown	Het
Frs3	G	T	17: 48,010,463 (GRCm39)	E32D	possibly damaging	Het
Gm14443	C	T	2: 175,012,035 (GRCm39)	C137Y	probably benign	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Havcr1	T	A	11: 46,643,402 (GRCm39)	C107*	probably null	Het
Hectd4	C	T	5: 121,448,692 (GRCm39)	R347W	probably damaging	Het
Hspbp1	A	G	7: 4,684,841 (GRCm39)		probably null	Het
Irs1	C	T	1: 82,266,443 (GRCm39)	R591H	possibly damaging	Het
Kif5b	A	G	18: 6,241,040 (GRCm39)	V23A	probably benign	Het
Myo1e	A	T	9: 70,242,501 (GRCm39)	I339F	possibly damaging	Het
Nkx2-5	T	C	17: 27,058,150 (GRCm39)	Y268C	probably damaging	Het
Or7g12	T	C	9: 18,899,952 (GRCm39)	S223P	probably damaging	Het
Polrmt	T	C	10: 79,574,623 (GRCm39)	M857V	probably damaging	Het
Prkd3	T	A	17: 79,315,691 (GRCm39)	M1L	not run	Het
Prss3b	A	C	6: 41,012,387 (GRCm39)	F9C	probably benign	Het
Psmc3	T	A	2: 90,887,007 (GRCm39)	V202E	possibly damaging	Het
Rab3d	G	A	9: 21,826,229 (GRCm39)	R93C	probably damaging	Het
Rasgrf2	A	C	13: 92,167,300 (GRCm39)	Y258D	probably damaging	Het
Rassf8	G	A	6: 145,761,669 (GRCm39)		probably null	Het
Rcbtb1	A	C	14: 59,459,016 (GRCm39)	S199R	probably benign	Het
Rif1	T	G	2: 51,964,288 (GRCm39)	V45G	probably damaging	Het
Riok3	G	A	18: 12,269,776 (GRCm39)	G69E	probably benign	Het
Scn1a	A	G	2: 66,158,786 (GRCm39)	L378P	probably damaging	Het
Sil1	A	T	18: 35,481,719 (GRCm39)	N113K	probably benign	Het
Slc35c2	C	T	2: 165,119,462 (GRCm39)	D293N	probably damaging	Het
Slc37a3	A	T	6: 39,324,325 (GRCm39)	S308T	possibly damaging	Het
Smarca5	A	T	8: 81,463,388 (GRCm39)	V60E	probably benign	Het
Smok3c	T	A	5: 138,063,341 (GRCm39)	V276D	probably damaging	Het
Snx29	G	A	16: 11,231,221 (GRCm39)		probably null	Het
Spata24	T	C	18: 35,795,093 (GRCm39)	E30G	probably damaging	Het
Stard13	T	A	5: 150,975,838 (GRCm39)	I777F	probably damaging	Het
Synpo2	A	G	3: 123,029,635 (GRCm39)	C8R	probably benign	Het
Tmem104	T	C	11: 115,134,307 (GRCm39)	V281A	probably damaging	Het
Tmprss11a	C	T	5: 86,567,879 (GRCm39)	G283R	probably damaging	Het
Trpc2	G	A	7: 101,738,388 (GRCm39)	V457M	probably benign	Het
Usp53	A	T	3: 122,728,000 (GRCm39)	S861T	possibly damaging	Het
Uty	G	T	Y: 1,154,210 (GRCm39)	S738*	probably null	Het
Wdr17	C	T	8: 55,113,806 (GRCm39)		probably null	Het
Wdr7	A	T	18: 64,037,157 (GRCm39)	S1194C	probably damaging	Het
Zyx	A	C	6: 42,333,505 (GRCm39)	D477A	probably damaging	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
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'- CTGTTTTCTATCAACCCAAGGC -3'
(R):5'- AGCTTGAAAGTAAGGGTGCC -3'

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

Posted On

2020-09-15