Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:Clca3a1'

658263

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 144747421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 514 (*514R)

Ref Sequence

ENSEMBL: ENSMUSP00000029932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029932] [ENSMUST00000059091]

AlphaFold

Q9QX15

Predicted Effect

probably null
Transcript: ENSMUST00000029932
AA Change: *514R

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: *514R

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	1	262	5.8e-144	PFAM
VWA	306	473	1.81e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059091
AA Change: D547E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: D547E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.44e-23	SMART
Blast:FN3	758	857	2e-44	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,143,952	D755G	possibly damaging	Het
A430033K04Rik	A	G	5: 138,646,858	E335G	probably benign	Het
Afp	C	T	5: 90,491,713	S34F	probably damaging	Het
Ano6	T	A	15: 95,949,926	I639N	probably damaging	Het
Atp13a1	T	G	8: 69,797,968	V411G	probably damaging	Het
Cadm2	A	T	16: 66,664,423	C383S	probably damaging	Het
Capn2	T	C	1: 182,477,275	I556V	probably benign	Het
Cd34	A	G	1: 194,959,781	E322G	probably benign	Het
Cel	T	C	2: 28,556,188	D557G	probably benign	Het
Cemip	T	C	7: 83,951,426	I996V	probably benign	Het
Cry2	C	G	2: 92,426,939	R95P	probably damaging	Het
Ctse	T	A	1: 131,664,380	I148N	probably damaging	Het
Cyp4f13	G	C	17: 32,924,859	P497R	probably damaging	Het
Dsn1	C	T	2: 156,997,720	V254M	probably benign	Het
Gm4847	T	A	1: 166,642,192	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,252,468	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,862,082	D33G	probably damaging	Het
Ints6	A	G	14: 62,705,876	Y455H	probably benign	Het
Kctd1	A	T	18: 14,974,171	C150S	probably damaging	Het
Kctd11	T	G	11: 69,880,051	T54P	probably damaging	Het
Kif1b	C	A	4: 149,192,611	G56*	probably null	Het
Kifap3	T	A	1: 163,829,297		probably null	Het
Naip5	G	T	13: 100,212,739	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,170,164	E1198G	probably damaging	Het
Nova1	T	A	12: 46,713,542	K90*	probably null	Het
Odc1	T	A	12: 17,548,395	L179H	probably damaging	Het
Olfr1490	T	A	19: 13,655,024	H193Q	probably damaging	Het
Olfr1496	A	G	19: 13,781,020	N136S	probably benign	Het
Olfr51	T	C	11: 51,007,050	V26A	probably benign	Het
Palm	C	T	10: 79,806,651	T6I	probably benign	Het
Parp10	T	A	15: 76,233,549	D879V	probably damaging	Het
Phf2	A	G	13: 48,817,705	V497A	unknown	Het
Pparg	A	G	6: 115,463,151	I199V	probably benign	Het
Ppm1b	T	A	17: 84,994,232	I180N	probably damaging	Het
Prdx5	A	T	19: 6,908,174	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,798	T236S	probably damaging	Het
Rab5b	G	A	10: 128,682,907	Q119*	probably null	Het
Rdh19	T	A	10: 127,859,600	W228R	probably damaging	Het
Schip1	G	T	3: 68,494,613	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,665,347	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,936,212	V426D	probably damaging	Het
Syne1	T	A	10: 5,228,896	E4526V	probably damaging	Het
Syne1	T	C	10: 5,318,441	K2083E	probably damaging	Het
Tecta	T	A	9: 42,330,251	I2143F	probably benign	Het
Tfap4	T	C	16: 4,551,306	D90G	probably damaging	Het
Ttll12	T	C	15: 83,577,809	Y569C	probably damaging	Het
Zfp326	T	G	5: 105,888,585	S121A	probably damaging	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Clca3a1	APN	3	144755251	missense	probably damaging	0.96
IGL01331:Clca3a1	APN	3	144747512	missense	probably damaging	1.00
IGL01895:Clca3a1	APN	3	144747572	nonsense	probably null
IGL01940:Clca3a1	APN	3	144746976	missense	probably benign	0.25
IGL02162:Clca3a1	APN	3	144754803	missense	probably damaging	0.98
IGL02200:Clca3a1	APN	3	144751929	splice site	probably benign
IGL03093:Clca3a1	APN	3	144747501	missense	probably damaging	0.99
Lucha	UTSW	3	144749689	missense	probably damaging	1.00
R0256:Clca3a1	UTSW	3	144730879	missense	probably damaging	0.98
R0513:Clca3a1	UTSW	3	144760562	critical splice donor site	probably null
R0543:Clca3a1	UTSW	3	144748394	splice site	probably benign
R1522:Clca3a1	UTSW	3	144755171	missense	probably benign	0.01
R1744:Clca3a1	UTSW	3	144746835	missense	probably damaging	0.99
R1873:Clca3a1	UTSW	3	144746829	missense	probably damaging	0.99
R2238:Clca3a1	UTSW	3	144752005	missense	possibly damaging	0.94
R2278:Clca3a1	UTSW	3	144758024	missense	probably damaging	0.99
R2516:Clca3a1	UTSW	3	144737858	splice site	probably null
R3737:Clca3a1	UTSW	3	144730721	missense	probably benign	0.01
R3981:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3982:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3983:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R4038:Clca3a1	UTSW	3	144755233	missense	probably benign	0.35
R4382:Clca3a1	UTSW	3	144760722	start codon destroyed	probably benign	0.08
R4543:Clca3a1	UTSW	3	144746988	missense	probably damaging	1.00
R4766:Clca3a1	UTSW	3	144749712	missense	probably damaging	1.00
R4899:Clca3a1	UTSW	3	144737961	missense	probably damaging	1.00
R5090:Clca3a1	UTSW	3	144737872	missense	probably benign	0.01
R5091:Clca3a1	UTSW	3	144730722	missense	probably benign	0.00
R5205:Clca3a1	UTSW	3	144746784	missense	possibly damaging	0.68
R5248:Clca3a1	UTSW	3	144737136	missense	possibly damaging	0.62
R5354:Clca3a1	UTSW	3	144737005	missense	possibly damaging	0.77
R5871:Clca3a1	UTSW	3	144754881	missense	probably damaging	1.00
R5907:Clca3a1	UTSW	3	144749642	intron	probably benign
R5976:Clca3a1	UTSW	3	144746875	missense	probably damaging	1.00
R6190:Clca3a1	UTSW	3	144758060	missense	probably benign	0.40
R6193:Clca3a1	UTSW	3	144759232	missense	possibly damaging	0.65
R6263:Clca3a1	UTSW	3	144749778	missense	probably damaging	1.00
R6299:Clca3a1	UTSW	3	144758514	missense	probably damaging	0.99
R6327:Clca3a1	UTSW	3	144730797	missense	probably benign	0.02
R6497:Clca3a1	UTSW	3	144759259	missense	possibly damaging	0.81
R6542:Clca3a1	UTSW	3	144759260	missense	probably benign	0.01
R6547:Clca3a1	UTSW	3	144736947	missense	probably damaging	1.00
R6759:Clca3a1	UTSW	3	144749689	missense	probably damaging	1.00
R7032:Clca3a1	UTSW	3	144747568	missense	probably benign	0.07
R7063:Clca3a1	UTSW	3	144755206	missense	probably damaging	0.97
R7139:Clca3a1	UTSW	3	144755302	missense	possibly damaging	0.58
R7638:Clca3a1	UTSW	3	144751962	missense	probably damaging	1.00
R7663:Clca3a1	UTSW	3	144737036	missense	probably benign	0.02
R7792:Clca3a1	UTSW	3	144749731	missense	possibly damaging	0.95
R7798:Clca3a1	UTSW	3	144757962	missense	probably damaging	1.00
R7892:Clca3a1	UTSW	3	144730818	missense	probably benign	0.00
R8096:Clca3a1	UTSW	3	144749685	missense	probably damaging	1.00
R8305:Clca3a1	UTSW	3	144759166	splice site	probably benign
R8416:Clca3a1	UTSW	3	144755153	critical splice donor site	probably null
R8446:Clca3a1	UTSW	3	144748487	missense	probably damaging	0.97
R9014:Clca3a1	UTSW	3	144736970	missense	probably benign	0.01
R9128:Clca3a1	UTSW	3	144758034	missense	probably damaging	1.00
R9601:Clca3a1	UTSW	3	144747549	missense	probably benign	0.27
Z1088:Clca3a1	UTSW	3	144746953	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTAGAGACCTACATTGCTAACCTC -3'
(R):5'- GAGCAAAGCCTTCGATGTCAG -3'

Sequencing Primer
(F):5'- GACCTACATTGCTAACCTCAATACTG -3'
(R):5'- AGCCTTCGATGTCAGAGCAG -3'

Posted On

2021-01-18