Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02217:Clca4a'

284925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144961996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 405 (T405S)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029923]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029923
AA Change: T405S

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T405S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
VWA	306	480	5.94e-16	SMART
Blast:VWA	513	552	7e-18	BLAST
Blast:FN3	757	838	8e-33	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,470,898		probably benign	Het
Actn1	G	A	12: 80,174,094	Q647*	probably null	Het
Adamts6	T	A	13: 104,462,365		probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabin1	G	A	10: 75,700,047	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,029,200		probably benign	Het
Cntln	G	A	4: 85,100,258	V1168M	probably damaging	Het
Col18a1	A	G	10: 77,053,298	S1494P	probably damaging	Het
Cps1	A	T	1: 67,174,382	T758S	probably benign	Het
Cul3	A	T	1: 80,283,767	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,369,143		probably null	Het
Dennd4c	T	A	4: 86,813,799	C917S	probably benign	Het
Dhrs11	A	T	11: 84,822,395	Y166*	probably null	Het
Dtl	A	G	1: 191,568,314	V146A	probably damaging	Het
Exosc9	A	G	3: 36,552,744	E20G	probably damaging	Het
Fer	A	G	17: 64,138,965	K437R	probably benign	Het
Fkbp6	A	T	5: 135,337,630	V284E	probably benign	Het
Foxq1	A	T	13: 31,559,169	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832	S83R	probably damaging	Het
Gm5244	A	T	19: 12,846,863		noncoding transcript	Het
Gm765	T	A	6: 98,248,072	E83D	possibly damaging	Het
Gm884	T	C	11: 103,612,871		probably benign	Het
Gpr156	A	G	16: 38,005,311	D630G	probably benign	Het
Hace1	A	T	10: 45,590,375		probably null	Het
Hemgn	G	T	4: 46,396,420	T272K	probably damaging	Het
Ifi213	T	G	1: 173,595,032	E89A	possibly damaging	Het
Jarid2	A	G	13: 44,913,201	E954G	probably damaging	Het
Kcnu1	A	G	8: 25,858,184	D126G	probably damaging	Het
Lbh	A	T	17: 72,921,252	I31F	possibly damaging	Het
Muc6	T	C	7: 141,649,624	E490G	probably damaging	Het
Ncoa3	T	C	2: 166,055,346	S686P	probably damaging	Het
Nme4	A	G	17: 26,093,860	M108T	probably damaging	Het
Nod1	A	C	6: 54,943,419	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,406,539	N70S	probably damaging	Het
Olfr1111	A	G	2: 87,149,887	M258T	probably benign	Het
Olfr1344	T	A	7: 6,440,245	I115N	probably damaging	Het
Pitrm1	G	A	13: 6,567,341		probably benign	Het
Proser1	A	G	3: 53,471,491	K115E	probably damaging	Het
Ptov1	C	T	7: 44,867,476	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,417,389		probably null	Het
Rbbp8nl	A	G	2: 180,278,188		probably benign	Het
Rtn3	G	A	19: 7,435,084	T794I	probably damaging	Het
Setd4	A	G	16: 93,593,295	L82P	probably damaging	Het
Shank2	C	T	7: 144,285,047	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,545,570	V45G	probably damaging	Het
Utrn	A	G	10: 12,751,559	F57S	probably damaging	Het
Vcan	T	G	13: 89,703,077	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,339,810	H183P	probably damaging	Het
Wdr48	T	C	9: 119,909,535	I286T	probably benign	Het

Other mutations in Clca4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Clca4a	APN	3	144954939	missense	probably damaging	0.99
IGL01139:Clca4a	APN	3	144966269	missense	probably damaging	0.99
IGL01371:Clca4a	APN	3	144960672	missense	probably damaging	1.00
IGL01609:Clca4a	APN	3	144953780	missense	probably damaging	1.00
IGL01998:Clca4a	APN	3	144958126	missense	probably damaging	0.98
IGL02172:Clca4a	APN	3	144970394	nonsense	probably null
IGL02514:Clca4a	APN	3	144955071	missense	probably damaging	1.00
IGL02975:Clca4a	APN	3	144963769	missense	possibly damaging	0.90
IGL03025:Clca4a	APN	3	144957318	missense	probably benign	0.07
IGL03049:Clca4a	APN	3	144970755	splice site	probably benign
IGL03058:Clca4a	APN	3	144961834	splice site	probably benign
IGL03259:Clca4a	APN	3	144958080	missense	probably damaging	1.00
IGL03263:Clca4a	APN	3	144966431	missense	probably damaging	1.00
IGL03334:Clca4a	APN	3	144953866	missense	probably benign	0.28
PIT4142001:Clca4a	UTSW	3	144968311	missense	probably damaging	1.00
R0201:Clca4a	UTSW	3	144960717	missense	probably benign	0.00
R0316:Clca4a	UTSW	3	144953764	missense	probably damaging	1.00
R0524:Clca4a	UTSW	3	144969393	missense	probably damaging	1.00
R0680:Clca4a	UTSW	3	144969367	missense	probably damaging	1.00
R0688:Clca4a	UTSW	3	144961974	missense	probably damaging	1.00
R1137:Clca4a	UTSW	3	144970685	missense	probably damaging	1.00
R1568:Clca4a	UTSW	3	144952929	missense	probably benign	0.00
R1719:Clca4a	UTSW	3	144963755	missense	probably damaging	1.00
R2055:Clca4a	UTSW	3	144970728	missense	probably damaging	1.00
R3078:Clca4a	UTSW	3	144968253	missense	probably damaging	0.99
R3080:Clca4a	UTSW	3	144963790	missense	probably damaging	1.00
R3789:Clca4a	UTSW	3	144974956	missense	probably damaging	1.00
R3881:Clca4a	UTSW	3	144957318	missense	probably benign	0.07
R4133:Clca4a	UTSW	3	144969352	missense	probably benign	0.07
R4402:Clca4a	UTSW	3	144952848	missense	probably benign	0.08
R4455:Clca4a	UTSW	3	144957259	missense	probably damaging	1.00
R4577:Clca4a	UTSW	3	144954969	missense	probably damaging	0.97
R4683:Clca4a	UTSW	3	144954940	missense	probably damaging	1.00
R5135:Clca4a	UTSW	3	144954946	missense	probably damaging	1.00
R5267:Clca4a	UTSW	3	144953812	missense	probably damaging	1.00
R5345:Clca4a	UTSW	3	144970461	missense	probably damaging	1.00
R6311:Clca4a	UTSW	3	144966413	missense	probably damaging	0.99
R6492:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6493:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6494:Clca4a	UTSW	3	144957298	missense	probably benign	0.00
R6861:Clca4a	UTSW	3	144970655	missense	probably benign
R7102:Clca4a	UTSW	3	144961909	missense	probably benign	0.01
R7133:Clca4a	UTSW	3	144961890	nonsense	probably null
R7171:Clca4a	UTSW	3	144958173	missense	probably benign
R7516:Clca4a	UTSW	3	144966248	missense	probably damaging	1.00
R7642:Clca4a	UTSW	3	144953751	missense	probably benign	0.11
R7731:Clca4a	UTSW	3	144952785	missense	probably benign	0.02
R7787:Clca4a	UTSW	3	144953833	missense	probably benign
R7820:Clca4a	UTSW	3	144960671	missense	probably damaging	1.00
R7895:Clca4a	UTSW	3	144968405	missense	probably benign	0.19
R7991:Clca4a	UTSW	3	144952739	missense	possibly damaging	0.75
R8240:Clca4a	UTSW	3	144970727	missense	probably damaging	1.00
R9308:Clca4a	UTSW	3	144970422	missense	probably damaging	1.00
R9373:Clca4a	UTSW	3	144966372	missense	possibly damaging	0.66
R9488:Clca4a	UTSW	3	144953771	missense	probably damaging	1.00
R9772:Clca4a	UTSW	3	144970661	missense	probably damaging	1.00
R9781:Clca4a	UTSW	3	144961952	missense	probably benign	0.01

Posted On

2015-04-16