Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03093:Clca3a1'

418441

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 #

IGL03093

Quality Score

Status

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144747501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 487 (Y487C)

Ref Sequence

ENSEMBL: ENSMUSP00000029932 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably damaging
Transcript: ENSMUST00000029932
AA Change: Y487C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: Y487C

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: I521V

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

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: I521V

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	A	G	19: 53,231,207	D121G	probably damaging	Het
Cacna1s	A	G	1: 136,116,064	D1380G	probably benign	Het
Coro2a	A	G	4: 46,544,158	S278P	possibly damaging	Het
Creb3l3	A	G	10: 81,091,213	S128P	probably benign	Het
Dab2	A	G	15: 6,436,411	R697G	probably damaging	Het
Erap1	T	C	13: 74,675,280	F811S	probably benign	Het
Fam170b	A	G	14: 32,835,525	S106G	probably damaging	Het
Galk2	T	C	2: 125,929,643	L196P	probably damaging	Het
Gan	T	C	8: 117,183,575	M81T	probably benign	Het
Gemin2	A	G	12: 59,021,725	T197A	probably benign	Het
Hemgn	A	T	4: 46,396,504	M244K	probably benign	Het
Htr6	A	G	4: 139,061,769	F325S	probably damaging	Het
Igkv9-120	A	G	6: 68,050,414	D104G	probably damaging	Het
Itpr2	A	C	6: 146,379,510	I216S	probably damaging	Het
Lingo1	T	C	9: 56,619,464	I614V	possibly damaging	Het
Mep1b	C	T	18: 21,093,653	T524M	probably benign	Het
Mtif2	A	G	11: 29,530,702		probably benign	Het
Mylk	G	A	16: 34,912,192	R614H	possibly damaging	Het
Olfr601	T	C	7: 103,358,239		probably benign	Het
Olfr706	T	C	7: 106,886,203	T205A	probably benign	Het
Pabpc4	G	A	4: 123,286,709	D75N	probably damaging	Het
Paics	T	A	5: 76,961,508		probably null	Het
Prl	T	A	13: 27,064,887	I172N	probably benign	Het
Ripk2	A	G	4: 16,152,056	S168P	probably damaging	Het
Siglecf	T	C	7: 43,352,441	V225A	probably damaging	Het
Slc36a1	A	G	11: 55,219,604	I86V	probably benign	Het
Slc6a13	A	G	6: 121,332,448	Y306C	probably damaging	Het
Soat2	T	A	15: 102,157,643	L250Q	probably damaging	Het
Tex38	A	G	4: 115,780,565	S14P	probably damaging	Het
Tm2d1	A	T	4: 98,380,684	C59S	possibly damaging	Het
Tmco1	A	G	1: 167,316,279	D82G	probably damaging	Het
Tmem245	G	A	4: 56,886,019	R866W	probably damaging	Het
Tnip1	G	T	11: 54,940,826	Y7*	probably null	Het
Trp73	A	G	4: 154,104,873	M48T	probably benign	Het
Tslp	T	C	18: 32,815,559		probably benign	Het
Usp47	T	C	7: 112,089,620	F745L	probably damaging	Het
Vmn2r53	T	A	7: 12,600,864	T290S	probably benign	Het
Wdr1	T	C	5: 38,561,129	D30G	probably benign	Het
Zkscan2	T	C	7: 123,494,850	Y247C	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
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

2016-08-02