Mutagenetix > Incidental Mutation

Incidental Mutation 'R5871:Clca3a1'

455180

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

043234-MU

Accession Numbers

Essential gene?

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

Stock #

R5871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144754881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 271 (S271R)

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: S271R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: S271R

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: S271R

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

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: S271R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196146

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	T	1: 173,332,073	L293Q	probably damaging	Het
Ankrd13d	A	G	19: 4,281,994	V92A	possibly damaging	Het
Anxa5	T	A	3: 36,452,249	Q218L	possibly damaging	Het
Bend6	T	C	1: 33,863,865	M135V	probably damaging	Het
Ccr5	T	C	9: 124,124,521	F54L	probably benign	Het
Chrng	T	C	1: 87,206,729	V164A	possibly damaging	Het
Csmd3	G	A	15: 47,888,716	T1282I	probably damaging	Het
Dock10	C	A	1: 80,541,340		probably null	Het
Esrrb	A	G	12: 86,505,887	Y196C	probably benign	Het
Fam76a	T	C	4: 132,904,010	D208G	probably damaging	Het
Fancd2	A	G	6: 113,556,282	E520G	probably benign	Het
Fgf9	A	T	14: 58,083,199		probably null	Het
Gatb	T	A	3: 85,653,776	L533*	probably null	Het
Gm884	T	C	11: 103,616,454		probably benign	Het
Igsf10	G	T	3: 59,330,411	A783D	possibly damaging	Het
Ldlrap1	A	G	4: 134,758,929	I73T	probably damaging	Het
Msr1	G	A	8: 39,611,652	P327L	probably damaging	Het
Myo18a	T	C	11: 77,832,480	Y823H	probably damaging	Het
Ncapg	A	G	5: 45,695,697	E835G	probably damaging	Het
Nfam1	A	G	15: 83,016,422	S120P	probably damaging	Het
Olfr1158	T	C	2: 87,991,011	F300S	possibly damaging	Het
Olfr1294	A	G	2: 111,537,639	S217P	probably damaging	Het
Olfr679	T	C	7: 105,086,304	V196A	possibly damaging	Het
Olfr913	T	A	9: 38,594,332	I37K	possibly damaging	Het
Phtf2	A	G	5: 20,794,401	V248A	probably benign	Het
Pik3r3	G	T	4: 116,286,158	E283*	probably null	Het
Plcg2	T	A	8: 117,504,217	Y13N	probably damaging	Het
Pth2r	C	T	1: 65,388,637	P490S	probably damaging	Het
Rnf40	T	A	7: 127,591,585	M275K	probably damaging	Het
Rpgrip1l	T	C	8: 91,221,386	E1223G	possibly damaging	Het
Sec14l5	T	A	16: 5,168,853	N168K	probably benign	Het
Siglecf	T	C	7: 43,355,621	V425A	probably benign	Het
Sorbs1	A	G	19: 40,398,583	V13A	probably damaging	Het
Svil	T	A	18: 5,103,669		probably null	Het
Tbrg1	A	G	9: 37,650,982	I300T	probably damaging	Het
Tnni3k	T	A	3: 155,030,370	D112V	probably benign	Het
Ubxn1	A	G	19: 8,874,212	Q203R	probably benign	Het
Ugt1a7c	A	G	1: 88,095,659	D180G	possibly damaging	Het
Usp14	A	G	18: 9,996,234	F449L	probably benign	Het
Wwc2	A	G	8: 47,868,423	L552P	unknown	Het
Zscan10	A	G	17: 23,607,267		probably benign	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
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'- AGAAATCCAGCATATCGTTTCTTAC -3'
(R):5'- TGGACGGGAAAGTATCTACATAC -3'

Sequencing Primer
(F):5'- ACTTTGTCCATGCTTCCAGATTTATC -3'
(R):5'- TACAAACCGGCTTGTCAGG -3'

Posted On

2017-02-10