Mutagenetix > Incidental Mutation

Incidental Mutation 'R9128:Clca3a1'

693389

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: 0.077) question?

Stock #

R9128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144758034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 161 (R161W)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably damaging
Transcript: ENSMUST00000029932
AA Change: R161W

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

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: R161W

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 damaging
Transcript: ENSMUST00000059091
AA Change: R161W

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

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: R161W

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,002,518	V542A	possibly damaging	Het
Abhd8	G	T	8: 71,461,745	R80S	probably benign	Het
Actc1	T	C	2: 114,050,465	Y93C	possibly damaging	Het
Actn4	G	T	7: 28,894,504	D859E	possibly damaging	Het
Adcy2	C	T	13: 68,625,808	G1039R	probably damaging	Het
Als2	A	G	1: 59,180,550	M1202T	probably benign	Het
Aste1	T	A	9: 105,396,709	Y49*	probably null	Het
Atp8b4	T	C	2: 126,392,830	D422G	probably benign	Het
Bag6	T	A	17: 35,144,712	S791T	probably damaging	Het
Bivm	T	A	1: 44,128,789	W222R	probably null	Het
Bod1l	A	C	5: 41,788,923	V3003G	probably benign	Het
Bsn	T	C	9: 108,116,150	D801G	probably benign	Het
Ccdc14	G	A	16: 34,706,789	D403N	probably damaging	Het
Cenpj	T	A	14: 56,542,862	E964V	probably damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Dcxr	A	T	11: 120,726,546	V57E		Het
Dnah17	T	G	11: 118,046,178	N3400T	possibly damaging	Het
Dnaja3	C	T	16: 4,702,300	T444I	possibly damaging	Het
Dopey1	T	C	9: 86,513,155	S772P	probably benign	Het
Ednrb	T	C	14: 103,843,092	N129D	probably damaging	Het
Ep300	T	A	15: 81,649,745	M2001K	unknown	Het
Fam3b	A	G	16: 97,501,000	I8T	probably benign	Het
Fam98c	A	T	7: 29,154,690	S85T		Het
Fat1	G	A	8: 45,009,841	V1232I	probably benign	Het
Fzd3	T	A	14: 65,212,177	Y484F	probably damaging	Het
Gm13023	T	A	4: 143,793,608	S141T	probably benign	Het
H3f3a	T	C	1: 180,803,095	I131M	possibly damaging	Het
Ifi206	A	T	1: 173,471,456	D861E	unknown	Het
Ihh	T	C	1: 74,946,339	Y329C	probably damaging	Het
Jak2	A	G	19: 29,301,062	N909D	probably damaging	Het
Krtap12-1	C	A	10: 77,720,789	C55*	probably null	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mpp5	A	G	12: 78,797,058	E12G	probably benign	Het
Mreg	T	C	1: 72,192,057	T81A	probably benign	Het
Muc16	T	C	9: 18,647,582	T2472A	unknown	Het
Nanos3	A	T	8: 84,176,451	D27E	probably benign	Het
Nox3	T	G	17: 3,669,861	S350R	probably damaging	Het
Olfr1049	T	A	2: 86,255,678	N5I	probably damaging	Het
Olfr734	A	G	14: 50,320,757	V26A	probably benign	Het
Pafah2	C	T	4: 134,419,970	T310M	probably damaging	Het
Pianp	A	G	6: 125,000,695	I185V	probably benign	Het
Pja2	T	C	17: 64,309,475	T142A	probably benign	Het
Poln	G	A	5: 34,014,314	P747L	probably damaging	Het
Rdx	T	A	9: 52,064,879	L39*	probably null	Het
Rnf146	A	G	10: 29,347,543	W116R	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Sec24d	A	G	3: 123,294,161	T224A	probably benign	Het
Serpinb9	T	A	13: 33,006,703	I54K	possibly damaging	Het
Slc25a13	A	T	6: 6,109,987	L324Q	probably null	Het
Slc9c1	T	C	16: 45,580,127	L700P	probably benign	Het
Snta1	T	C	2: 154,380,936	K289R	probably benign	Het
Sppl2a	A	G	2: 126,923,473	F243S	probably damaging	Het
Syne1	T	C	10: 5,108,556	E7319G	probably benign	Het
Taf5l	G	A	8: 124,003,275	P225L	probably benign	Het
Tet2	A	T	3: 133,469,613	N1324K	possibly damaging	Het
Usp5	A	T	6: 124,823,451		probably null	Het
Vmn2r124	G	T	17: 18,074,177	R842L	probably benign	Het
Vps16	A	G	2: 130,424,399	D2G	possibly damaging	Het
Vwf	T	C	6: 125,642,730	L1457P		Het
Xpo1	A	G	11: 23,285,058	T576A	probably damaging	Het
Zdhhc6	A	T	19: 55,313,248	Y100*	probably null	Het
Zfp534	T	A	4: 147,675,625	R196*	probably null	Het
Zfp710	C	T	7: 80,081,374	R100W	probably damaging	Het
Zfp750	T	C	11: 121,513,848	K67R	probably benign	Het
Zmynd10	T	C	9: 107,549,127	S158P		Het
Zmynd8	A	T	2: 165,858,138	M1K	probably null	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
R8496:Clca3a1	UTSW	3	144747421	makesense	probably null
R9014:Clca3a1	UTSW	3	144736970	missense	probably benign	0.01
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'- GTGAACTGTCTAACACTCTGTCAG -3'
(R):5'- AGCCTTCACTAACACCTGTG -3'

Sequencing Primer
(F):5'- CTGTCAGTTGAACTGCCAAGTACAG -3'
(R):5'- GATAGTTATATCCCACCTATTTGTGC -3'

Posted On

2022-01-20