Mutagenetix > Incidental Mutation

Incidental Mutation 'R9493:Clca4b'

717051

Institutional Source

Beutler Lab

Gene Symbol

Clca4b

Ensembl Gene

ENSMUSG00000074195

Gene Name

chloride channel accessory 4B

Synonyms

AI747448

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144616682-144638290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144632964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 162 (L162H)

Ref Sequence

ENSEMBL: ENSMUSP00000096149 (fasta)

Gene Model

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

AlphaFold

Q3UW98

Predicted Effect

probably damaging
Transcript: ENSMUST00000098549
AA Change: L162H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: L162H

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: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,191 (GRCm39)	Y799H	probably damaging	Het
Akap5	G	A	12: 76,375,041 (GRCm39)	A158T	probably damaging	Het
Aox4	A	G	1: 58,286,434 (GRCm39)	K689E	probably benign	Het
Arid1b	G	A	17: 5,046,423 (GRCm39)	A404T	unknown	Het
Bltp1	A	G	3: 37,065,885 (GRCm39)	N53S		Het
Camk2b	T	A	11: 5,929,711 (GRCm39)	D396V	probably damaging	Het
Cd53	T	A	3: 106,674,683 (GRCm39)	D128V	probably null	Het
Cdk15	G	T	1: 59,326,943 (GRCm39)	R208L	probably damaging	Het
Celsr1	T	G	15: 85,785,346 (GRCm39)	K2963Q	probably damaging	Het
Celsr2	A	G	3: 108,301,074 (GRCm39)	S2740P	probably damaging	Het
Cntn1	A	T	15: 92,189,644 (GRCm39)	T656S	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Dpy19l2	A	G	9: 24,530,459 (GRCm39)	Y507H	probably damaging	Het
Dsc3	A	T	18: 20,122,752 (GRCm39)	C57*	probably null	Het
Gramd1b	A	G	9: 40,217,689 (GRCm39)	Y621H	probably damaging	Het
Ifi207	A	T	1: 173,556,522 (GRCm39)	C739S	probably benign	Het
Il1rap	T	C	16: 26,541,702 (GRCm39)	S648P	probably benign	Het
Ints5	C	T	19: 8,872,686 (GRCm39)	T215I	probably damaging	Het
Itm2c	T	C	1: 85,834,255 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,137,907 (GRCm39)	S870T	probably benign	Het
Lrpprc	A	T	17: 85,015,548 (GRCm39)	F1288I	probably damaging	Het
Megf11	A	T	9: 64,547,376 (GRCm39)	H209L	probably damaging	Het
Mtss1	C	T	15: 58,926,869 (GRCm39)	R69H	probably damaging	Het
Nms	A	T	1: 38,980,982 (GRCm39)	H56L	probably benign	Het
Or4f54	G	A	2: 111,122,736 (GRCm39)	G41D	probably damaging	Het
Or4k36	C	T	2: 111,146,288 (GRCm39)	H155Y	probably damaging	Het
Or56a5	A	T	7: 104,793,497 (GRCm39)	M7K	possibly damaging	Het
Or5t17	T	C	2: 86,833,140 (GRCm39)	S276P	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pskh1	C	T	8: 106,639,598 (GRCm39)	R93*	probably null	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sec31b	C	A	19: 44,509,021 (GRCm39)	V653F	probably damaging	Het
Slc10a2	A	G	8: 5,139,047 (GRCm39)	V299A		Het
Slc6a15	A	G	10: 103,229,277 (GRCm39)	I105M	probably benign	Het
Smurf1	A	G	5: 144,833,395 (GRCm39)	V209A		Het
Snapc2	A	G	8: 4,304,591 (GRCm39)	E115G	probably damaging	Het
Sorcs2	T	C	5: 36,199,529 (GRCm39)	E592G	possibly damaging	Het
Spmip6	G	A	4: 41,508,614 (GRCm39)	P17L		Het
Styxl2	T	A	1: 165,926,410 (GRCm39)	K1067N	probably damaging	Het
Tcl1b1	A	T	12: 105,130,823 (GRCm39)	Q102L	probably damaging	Het
Tmc1	T	A	19: 20,801,644 (GRCm39)	N461Y	probably benign	Het
Trim59	C	A	3: 68,945,134 (GRCm39)	G69C	probably damaging	Het
Tubg1	A	G	11: 101,017,003 (GRCm39)	Y435C	probably damaging	Het
Ucp3	A	C	7: 100,131,911 (GRCm39)	H254P	probably benign	Het
Vav2	T	C	2: 27,157,276 (GRCm39)	D842G	probably damaging	Het
Vmn1r203	T	A	13: 22,708,423 (GRCm39)	L68H	probably damaging	Het
Wee2	A	G	6: 40,421,057 (GRCm39)	E49G	probably benign	Het
Zfr	A	G	15: 12,180,706 (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
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
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'- CCTTGGAAGAAAATATGGATGCTTG -3'
(R):5'- ACTGTGGCATATGCTCCATAATG -3'

Sequencing Primer
(F):5'- CTTGTCATTGGAAAGGACTATAGAGC -3'
(R):5'- GAACAACTTGAGAGTCAGTTCTTGCC -3'

Posted On

2022-07-18