Mutagenetix > Incidental Mutation

Incidental Mutation 'R8198:Clca4b'

635525

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

067621-MU

Accession Numbers

Essential gene?

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

Stock #

R8198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144638167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 32 (G32C)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably damaging
Transcript: ENSMUST00000098549
AA Change: G32C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: G32C

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,825,017 (GRCm39)	*168R	probably null	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ankrd27	T	C	7: 35,307,880 (GRCm39)	V373A	probably benign	Het
Aoah	C	T	13: 21,101,290 (GRCm39)	P270L	probably damaging	Het
AU041133	C	G	10: 81,987,249 (GRCm39)	P301A	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Cd2bp2	A	G	7: 126,793,576 (GRCm39)	S204P	possibly damaging	Het
Clcn2	A	G	16: 20,525,946 (GRCm39)	V808A	probably damaging	Het
Clec4d	T	C	6: 123,244,965 (GRCm39)	C82R	probably damaging	Het
Dennd1c	T	C	17: 57,373,460 (GRCm39)	D671G	possibly damaging	Het
Eml5	G	A	12: 98,825,145 (GRCm39)	R691*	probably null	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gm4922	T	C	10: 18,659,340 (GRCm39)	T461A	probably benign	Het
Gm9964	A	G	11: 79,187,405 (GRCm39)	V14A	unknown	Het
Gnb3	T	C	6: 124,814,000 (GRCm39)	Y196C	probably benign	Het
H4c2	C	G	13: 23,941,283 (GRCm39)	Q94E	possibly damaging	Het
Hps1	C	T	19: 42,755,659 (GRCm39)	R189Q	probably benign	Het
Iars2	G	A	1: 185,029,703 (GRCm39)	T638I	probably benign	Het
Itpripl2	A	G	7: 118,089,819 (GRCm39)	S247P	probably damaging	Het
Leng8	C	A	7: 4,147,170 (GRCm39)	R523S	possibly damaging	Het
Lhfpl3	T	A	5: 23,478,333 (GRCm39)	V72D	probably benign	Het
Lmntd2	A	T	7: 140,791,134 (GRCm39)	M426K	possibly damaging	Het
Lsg1	A	T	16: 30,383,594 (GRCm39)	V542E	probably benign	Het
Mphosph6	C	T	8: 118,519,449 (GRCm39)	V108I	probably benign	Het
Mta2	A	G	19: 8,925,145 (GRCm39)	T338A	probably benign	Het
Ncoa7	T	C	10: 30,580,664 (GRCm39)	N98S	probably benign	Het
Or52h7	T	A	7: 104,214,140 (GRCm39)	D237E	probably benign	Het
Or7a36	C	A	10: 78,820,443 (GRCm39)	T273K	probably benign	Het
Or7a42	T	A	10: 78,791,558 (GRCm39)	V173E	probably damaging	Het
Pgr	T	C	9: 8,958,411 (GRCm39)	V806A	possibly damaging	Het
Rad54b	T	C	4: 11,612,440 (GRCm39)		probably null	Het
Sdad1	A	T	5: 92,439,811 (GRCm39)	C405S	probably damaging	Het
Semp2l2a	T	A	8: 13,887,056 (GRCm39)	Y345F	probably benign	Het
Shoc1	T	C	4: 59,065,174 (GRCm39)	I814V	probably benign	Het
Smg1	T	C	7: 117,744,829 (GRCm39)	I3108V	probably benign	Het
Spink5	A	T	18: 44,125,947 (GRCm39)	I409F	probably benign	Het
Syt13	C	A	2: 92,783,899 (GRCm39)	L390M	probably damaging	Het
Taf5	T	A	19: 47,064,212 (GRCm39)	V385E	probably damaging	Het
Tdrd9	T	A	12: 112,006,863 (GRCm39)	V909E	probably damaging	Het
Tex9	G	A	9: 72,387,940 (GRCm39)		probably benign	Het
Timm10b	G	T	7: 105,327,537 (GRCm39)	E61*	probably null	Het
Tmprss11g	A	T	5: 86,646,352 (GRCm39)	F72I	probably benign	Het
Trank1	T	C	9: 111,219,880 (GRCm39)	C2206R	probably benign	Het
Uba52rt	C	A	4: 3,973,346 (GRCm39)	R72L	probably benign	Het
Unc45b	GC	G	11: 82,816,814 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,991,910 (GRCm39)	S215P	possibly damaging	Het
Usp48	C	T	4: 137,348,470 (GRCm39)		probably benign	Het
Vmn1r81	A	G	7: 11,993,882 (GRCm39)	V242A	possibly damaging	Het
Zgrf1	T	A	3: 127,389,673 (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
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'- CCTTCATCTGGAATGTCTTAGAGC -3'
(R):5'- TCCCACAATCAGCTAACAGGTG -3'

Sequencing Primer
(F):5'- GGAATGTCTTAGAGCTTTCATCTCAC -3'
(R):5'- TGATGGCTTTCTCCAGAG -3'

Posted On

2020-07-13