Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01940:Clca3a1'

180834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

Accession Numbers

Essential gene?

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

Stock #

IGL01940

Quality Score

Status

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144746976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 582 (M582K)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025

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: M582K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: M582K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,567,661		probably benign	Het
Ahnak	A	T	19: 9,006,557	D1735V	probably benign	Het
Alkbh3	G	A	2: 93,981,595	T231I	probably damaging	Het
Ap4e1	T	C	2: 127,043,511	V344A	probably damaging	Het
Brip1	T	A	11: 86,064,966	D907V	probably benign	Het
Csf2	G	T	11: 54,249,525	P29H	probably damaging	Het
Cyp2d26	C	T	15: 82,792,557	R196H	probably benign	Het
Dagla	A	G	19: 10,252,171	V575A	probably benign	Het
Dimt1	T	A	13: 106,948,698		probably benign	Het
Ei24	A	T	9: 36,782,391	F288L	probably damaging	Het
Fam107a	T	C	14: 8,298,766	H120R	probably benign	Het
Fancl	G	T	11: 26,459,752	V203F	probably damaging	Het
Fgd6	T	A	10: 94,089,650		probably null	Het
Flrt2	A	G	12: 95,780,238	Y450C	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Ift122	A	G	6: 115,887,371		probably benign	Het
Kcnk13	A	G	12: 100,061,424	S253G	probably benign	Het
Lcp1	A	T	14: 75,216,365	N469I	probably benign	Het
Lrrc24	T	C	15: 76,716,057	Y294C	probably damaging	Het
Odam	C	A	5: 87,887,333	S52Y	possibly damaging	Het
Olfr1243	T	A	2: 89,527,810	N200I	probably damaging	Het
Olfr128	C	T	17: 37,924,286	T240I	probably damaging	Het
Olfr641	A	G	7: 104,039,922	N42S	probably damaging	Het
Pkd1	G	T	17: 24,579,746	R2676L	possibly damaging	Het
Plec	T	C	15: 76,180,329	D1915G	probably damaging	Het
Ptbp2	A	G	3: 119,726,115	V9A	possibly damaging	Het
Ptk2b	A	G	14: 66,158,613	I802T	probably benign	Het
Rabgap1	G	T	2: 37,487,067	A304S	probably damaging	Het
Sema3f	T	C	9: 107,683,697		probably benign	Het
Serpinb3a	A	T	1: 107,046,185	V332E	probably damaging	Het
Skil	T	A	3: 31,111,644	M370K	probably benign	Het
Slc25a1	T	A	16: 17,926,440	Y209F	probably benign	Het
Smim15	A	G	13: 108,047,630	K57E	probably damaging	Het
Taar3	T	A	10: 23,949,957	C134S	probably damaging	Het
Tns4	C	T	11: 99,068,221	S684N	probably benign	Het
Vmn2r58	A	G	7: 41,837,647	V608A	probably benign	Het
Zbtb26	A	T	2: 37,435,975	C350S	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
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
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

Posted On

2014-05-07