Mutagenetix > Incidental Mutation

Incidental Mutation 'R6497:Clca3a1'

523052

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 #

R6497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144759259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 71 (V71D)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029932
AA Change: V71D

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: V71D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059091
AA Change: V71D

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: V71D

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,805,105	Y399N	probably damaging	Het
Acsm3	G	A	7: 119,780,749		probably null	Het
Aldh16a1	T	A	7: 45,144,937	S556C	possibly damaging	Het
Armc7	T	C	11: 115,476,251	I74T	probably benign	Het
Atp13a4	T	C	16: 29,479,901	D80G	probably damaging	Het
Bicral	A	T	17: 46,825,573	I237K	probably damaging	Het
Caskin1	T	C	17: 24,504,548	V770A	probably benign	Het
Cd209c	T	C	8: 3,944,122	K113E	possibly damaging	Het
Cdh7	G	A	1: 110,065,798		probably null	Het
Cntnap5a	T	C	1: 116,577,897	L1228P	probably damaging	Het
Cntrl	A	G	2: 35,135,572	N85D	possibly damaging	Het
Coch	G	A	12: 51,602,721	V272M	probably benign	Het
Col22a1	T	C	15: 71,890,576	E78G	possibly damaging	Het
Cyp2c66	T	A	19: 39,163,377	C179S	probably damaging	Het
Dsg3	A	G	18: 20,537,248	I681V	probably benign	Het
Egflam	A	T	15: 7,251,303		probably null	Het
Fut10	T	A	8: 31,236,250	D344E	probably damaging	Het
Gad2	C	T	2: 22,668,257	P329L	probably damaging	Het
Gm14393	T	C	2: 175,061,634	E160G	possibly damaging	Het
Gprc6a	T	C	10: 51,615,701	I476V	probably benign	Het
Limk2	A	G	11: 3,360,492	F71L	probably benign	Het
Neb	A	T	2: 52,258,289	N2648K	possibly damaging	Het
Olfr561	T	A	7: 102,775,450	F309I	probably benign	Het
Olfr646	T	C	7: 104,107,215		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Pcdhgb7	T	A	18: 37,753,853	V692E	probably damaging	Het
Pclo	A	C	5: 14,793,855	K4802Q	unknown	Het
Primpol	A	T	8: 46,586,341		probably null	Het
Prr14	C	T	7: 127,474,578	R205C	probably benign	Het
Rbm12b1	T	C	4: 12,146,431	I801T	probably benign	Het
Ror2	A	T	13: 53,131,919	N86K	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Sh2d4b	A	G	14: 40,874,182	V81A	probably benign	Het
Skint6	A	G	4: 113,236,398	Y183H	probably damaging	Het
Snapc3	G	T	4: 83,453,126	E388*	probably null	Het
Srrm4	A	T	5: 116,467,491	S236T	unknown	Het
Srrt	G	T	5: 137,297,506	P193H	probably damaging	Het
Sspo	A	T	6: 48,495,208	T810S	possibly damaging	Het
Stk36	A	G	1: 74,603,232	H6R	probably damaging	Het
Tiam2	A	G	17: 3,506,827	T1181A	probably damaging	Het
Tmem184a	A	G	5: 139,813,000	F65L	probably damaging	Het
Vwa8	A	G	14: 79,096,401	I1330M	probably benign	Het
Zfp827	T	A	8: 79,180,128	M923K	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
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'- GGAGAGCATGTTTGTGTGCA -3'
(R):5'- GCTTTGGGCATGTGGAAATGA -3'

Sequencing Primer
(F):5'- AGAGCATGTTTGTGTGCATCTACAC -3'
(R):5'- TACGGATCCAAGAGATTCAGTC -3'

Posted On

2018-06-06