Mutagenetix > Incidental Mutation

Incidental Mutation 'R3982:Clca3a1'

345298

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

041608-MU

Accession Numbers

Essential gene?

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

Stock #

R3982 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144755309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 194 (T194S)

Ref Sequence

ENSEMBL: ENSMUSP00000029932 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932
AA Change: T194S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: T194S

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: T194S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: T194S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,542,369		probably null	Het
Adgrg6	T	C	10: 14,448,845	N445S	probably benign	Het
Adgrl3	A	G	5: 81,694,526	T902A	possibly damaging	Het
Atf4	T	C	15: 80,256,868	V153A	probably benign	Het
BC005561	T	C	5: 104,521,023	V1137A	probably benign	Het
Bsn	T	C	9: 108,107,166	T3230A	unknown	Het
Cadps2	A	G	6: 23,263,531		probably benign	Het
Cth	A	T	3: 157,913,697	L163*	probably null	Het
Flnc	G	A	6: 29,442,941	V492M	probably damaging	Het
Frmd6	T	C	12: 70,887,834	L269P	probably damaging	Het
Gpr62	G	A	9: 106,464,886	A281V	probably benign	Het
Hapln1	T	A	13: 89,605,441	F242Y	probably benign	Het
Ighv1-39	A	T	12: 114,914,631	S107T	possibly damaging	Het
Itga8	A	G	2: 12,300,963	V72A	possibly damaging	Het
Kcp	A	T	6: 29,484,637	L1314Q	probably damaging	Het
Klre1	T	A	6: 129,583,138	C124*	probably null	Het
Lrrk2	T	A	15: 91,709,284	M482K	probably benign	Het
Man2b2	T	C	5: 36,813,820	N734S	probably benign	Het
Map3k20	C	T	2: 72,438,227	T526I	probably damaging	Het
Mdga1	C	A	17: 29,931,264	A125S	unknown	Het
Mmd2	T	C	5: 142,564,799	Y228C	probably damaging	Het
Mme	T	A	3: 63,328,064	Y178N	probably damaging	Het
Nifk	T	A	1: 118,329,552	S138R	possibly damaging	Het
Nlrp4b	T	C	7: 10,714,431	V187A	possibly damaging	Het
Palmd	T	C	3: 116,923,823	T342A	probably benign	Het
Pigo	A	T	4: 43,023,482	S231T	probably benign	Het
Pik3cb	G	A	9: 99,046,601	T867M	probably benign	Het
Plag1	A	T	4: 3,904,055	S379T	probably damaging	Het
Polg2	G	A	11: 106,779,202	R81*	probably null	Het
Prpf4b	C	T	13: 34,884,213		probably benign	Het
Ptprq	T	A	10: 107,543,396	I1981F	probably damaging	Het
Usp24	G	A	4: 106,387,883	E1307K	probably benign	Het
Vmn2r115	T	A	17: 23,359,974	M807K	probably damaging	Het
Wee2	A	T	6: 40,455,241	N248I	possibly 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
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
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'- TTTTACACGCTTGGAGGGTC -3'
(R):5'- CAATAGCAGTTGCCACAGAGAG -3'

Sequencing Primer
(F):5'- ACGCTTGGAGGGTCATCGAG -3'
(R):5'- CAGTTGCCACAGAGAGATTTTAG -3'

Posted On

2015-09-25