Mutagenetix > Incidental Mutation

Incidental Mutation 'R9488:Clca4a'

716737

Institutional Source

Beutler Lab

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 #

R9488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144953771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 775 (T775A)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029923
AA Change: T775A

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

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T775A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	A	G	4: 10,893,271	D130G	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,788	I294L	probably benign	Het
Ankrd35	A	T	3: 96,682,027	K187N	probably damaging	Het
Arhgap40	C	T	2: 158,549,651	T631M	possibly damaging	Het
Arpin	T	C	7: 79,935,231	Y5C	probably damaging	Het
B020011L13Rik	A	G	1: 117,800,994	Y77C		Het
Cdk17	A	G	10: 93,208,204	K2E	probably damaging	Het
Cdk18	A	G	1: 132,121,522	F86L	probably benign	Het
Clvs2	T	A	10: 33,513,305	D313V	possibly damaging	Het
Col6a5	T	C	9: 105,864,589	Y2377C	probably damaging	Het
Drd2	T	C	9: 49,399,794	V115A	probably damaging	Het
Dsp	A	G	13: 38,193,242	R1668G	probably benign	Het
Eif2d	T	A	1: 131,155,225	V102E	probably damaging	Het
Fam205a1	A	G	4: 42,850,560	V532A	probably benign	Het
Fmo4	A	G	1: 162,803,768	V210A	probably damaging	Het
Galntl5	A	G	5: 25,210,439	R323G	probably damaging	Het
Git2	T	C	5: 114,766,472	T129A	probably benign	Het
Gm14124	G	A	2: 150,268,557	G389D	unknown	Het
Gm572	A	G	4: 148,668,456	H264R	possibly damaging	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Ighv7-4	T	C	12: 114,222,999	Y51C	probably damaging	Het
Jam2	A	G	16: 84,822,788	D289G	probably damaging	Het
Krt27	A	G	11: 99,348,709		probably null	Het
Lama5	T	C	2: 180,181,441	N2704S	possibly damaging	Het
Lhx8	A	T	3: 154,328,127	S70T	possibly damaging	Het
Lmo7	C	A	14: 101,885,347	T324N	possibly damaging	Het
Lrmp	G	A	6: 145,168,027	R307Q	probably damaging	Het
Man2a1	A	G	17: 64,733,739	T907A	possibly damaging	Het
Map3k4	C	T	17: 12,270,973	A524T	probably damaging	Het
Mga	C	T	2: 119,964,823	A2996V	possibly damaging	Het
Mybpc1	A	T	10: 88,543,762	M625K	possibly damaging	Het
Ncald	T	A	15: 37,372,125	N159Y	probably damaging	Het
Nfasc	T	C	1: 132,600,128	T832A	possibly damaging	Het
P2rx5	T	A	11: 73,165,601	I117N		Het
Pcdhb3	C	A	18: 37,302,363	R461S	possibly damaging	Het
Polr1b	T	C	2: 129,125,497	S937P	probably damaging	Het
Prep	C	A	10: 45,120,711	Q362K		Het
Prg4	T	C	1: 150,451,273	M342V	probably benign	Het
Prr14	A	T	7: 127,474,515	T184S	possibly damaging	Het
Prss58	A	G	6: 40,897,448	I98T	probably benign	Het
Pum3	T	C	19: 27,416,788	T361A	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,922		probably benign	Het
Sema4c	A	G	1: 36,551,986	V424A	probably benign	Het
Sema6a	A	T	18: 47,304,149	I58N	probably damaging	Het
Slc13a3	T	A	2: 165,408,931	Y506F	probably damaging	Het
Slc15a2	A	G	16: 36,759,289	V365A	probably benign	Het
Slc39a5	G	A	10: 128,397,759	L290F	probably damaging	Het
Taf6l	T	C	19: 8,782,072	T161A	probably benign	Het
Tbl2	T	A	5: 135,158,617	C243S	probably benign	Het
Tet2	A	T	3: 133,487,342	S444T	probably benign	Het
Thoc1	C	T	18: 9,992,168	L499F	probably damaging	Het
Tnc	A	G	4: 63,995,705	V1290A	probably damaging	Het
Tnpo1	T	C	13: 98,853,495	D716G	probably damaging	Het
Tpp2	A	T	1: 44,002,112	K1236N	probably benign	Het
Tshr	T	C	12: 91,537,815	V509A	probably damaging	Het
U2surp	T	C	9: 95,474,482	T775A		Het
Ubap2l	T	C	3: 90,021,349	T486A	probably benign	Het
Usp28	C	A	9: 49,023,988	P457T	probably damaging	Het
Usp44	A	G	10: 93,846,989	I387V	possibly damaging	Het
Vmn1r225	A	G	17: 20,502,531	D78G	probably damaging	Het
Vps13b	T	C	15: 35,447,734	M537T	possibly damaging	Het
Wdr6	G	A	9: 108,575,983	R234C	probably damaging	Het
Zfp949	C	A	9: 88,570,129	T584N	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
IGL02217:Clca4a	APN	3	144961996	missense	possibly damaging	0.61
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
R9772:Clca4a	UTSW	3	144970661	missense	probably damaging	1.00
R9781:Clca4a	UTSW	3	144961952	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTTTAAAAGACAGCTATGCAGGG -3'
(R):5'- AGAAAGCTGACTGACTGAGTTC -3'

Sequencing Primer
(F):5'- GGGAAAGTAAGACCTGTTTCATAAC -3'
(R):5'- AGCTGACTGACTGAGTTCTATAAAG -3'

Posted On

2022-07-18