Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01331:Clca3a1'

74499

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: 0.077) question?

Stock #

IGL01331

Quality Score

Status

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144747512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 517 (T517M)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

silent
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 damaging
Transcript: ENSMUST00000059091
AA Change: T517M

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

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: T517M

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clec4g	T	C	8: 3,717,190		probably benign	Het
Cmya5	C	T	13: 93,096,946	E545K	possibly damaging	Het
Cntn6	A	T	6: 104,774,523	D380V	probably damaging	Het
Col9a2	C	T	4: 121,045,192	P209S	possibly damaging	Het
Cyp2b9	T	C	7: 26,187,715	V183A	probably damaging	Het
Dpt	T	C	1: 164,796,810	Y27H	unknown	Het
Dusp16	T	C	6: 134,718,104	Q588R	possibly damaging	Het
Dusp27	C	A	1: 166,108,180	V150L	probably damaging	Het
Emg1	A	G	6: 124,705,070	S164P	probably benign	Het
Foxk1	G	A	5: 142,453,589	R428Q	probably damaging	Het
Frmd4a	T	A	2: 4,602,225	M667K	probably benign	Het
Gpr55	T	A	1: 85,941,193		probably benign	Het
Gtpbp8	A	G	16: 44,740,131	I162T	probably benign	Het
Ighv1-59	C	T	12: 115,335,372	V21I	possibly damaging	Het
Ipo11	T	A	13: 106,795,746	Y938F	possibly damaging	Het
Map4	G	T	9: 110,034,801	V365L	probably benign	Het
Mboat1	C	A	13: 30,219,701		probably benign	Het
Med12	A	G	X: 101,280,754	E649G	possibly damaging	Het
Nfkbie	T	C	17: 45,558,569	V150A	probably benign	Het
Olfr1054	A	C	2: 86,332,704	Y217*	probably null	Het
Olfr632	A	G	7: 103,937,575	Y65C	possibly damaging	Het
Prdm1	T	A	10: 44,441,974	K299N	possibly damaging	Het
Ribc1	T	C	X: 152,005,106	T291A	probably benign	Het
Rps6kc1	G	T	1: 190,800,352	N484K	possibly damaging	Het
Serpina3k	C	A	12: 104,343,110	A271D	probably benign	Het
Spata18	G	T	5: 73,669,681	R321L	probably damaging	Het
Syne2	C	A	12: 75,929,253		probably benign	Het
Syt17	T	A	7: 118,408,166	I302F	probably damaging	Het
Tgm6	A	G	2: 130,143,618		probably null	Het
Tmc2	A	G	2: 130,232,356	Y323C	probably damaging	Het
Tnc	T	C	4: 63,982,875	D1452G	probably damaging	Het
Ttn	A	G	2: 76,789,678	I7555T	probably damaging	Het
Ugt2b36	A	T	5: 87,090,942	W131R	probably damaging	Het
Vmn2r75	A	T	7: 86,171,662	C21*	probably null	Het
Zfp592	T	A	7: 81,041,548	C1158*	probably null	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Clca3a1	APN	3	144755251	missense	probably damaging	0.96
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
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

2013-10-07