Mutagenetix > Incidental Mutation

Incidental Mutation 'R7820:Clca4a'

601803

Institutional Source

Beutler Lab

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144960671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 473 (D473E)

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: D473E

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

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: D473E

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: 99.7%
20x: 99.0%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	T	A	7: 50,599,623	I135N	probably benign	Het
Abca14	A	T	7: 120,212,721	N175I	probably benign	Het
Adam12	A	G	7: 133,998,188	V99A	probably benign	Het
Ankfn1	G	T	11: 89,421,130	P730T	probably damaging	Het
Arhgap21	A	G	2: 20,863,172	S847P	probably damaging	Het
Cacna1i	C	T	15: 80,372,372	A989V	probably benign	Het
Cacnb2	T	A	2: 14,960,666	N152K	probably damaging	Het
Chd3	A	T	11: 69,353,238	Y1334N	probably damaging	Het
Crhr2	A	C	6: 55,102,779	I191S	probably damaging	Het
E430018J23Rik	A	T	7: 127,391,436	W460R	possibly damaging	Het
Eef1akmt3	T	C	10: 127,033,194	Q137R	possibly damaging	Het
Eml1	T	C	12: 108,515,174	I432T	possibly damaging	Het
Fcgbp	A	G	7: 28,120,359	T2504A	probably benign	Het
Hmgxb4	G	T	8: 75,000,946	E186*	probably null	Het
Ighv16-1	T	C	12: 114,068,969	N71S	probably benign	Het
Kif2b	A	G	11: 91,577,274	V61A	probably benign	Het
Map1b	C	T	13: 99,431,177	G1679R	unknown	Het
Mast4	G	A	13: 102,754,088	S1086L	probably damaging	Het
Mcm8	A	G	2: 132,840,772	E724G	possibly damaging	Het
Mfap5	C	A	6: 122,520,921	D51E	probably damaging	Het
Mon1a	T	C	9: 107,901,312	L245P	probably damaging	Het
Mtx1	G	T	3: 89,214,008	H106Q	probably benign	Het
Naip1	G	A	13: 100,423,070	S1142F	probably benign	Het
Ngp	A	G	9: 110,420,864	T77A	probably benign	Het
Oca2	A	T	7: 56,331,965	I612F	probably damaging	Het
Odf3	A	C	7: 140,849,263	T128P	probably benign	Het
Olfr1224-ps1	T	A	2: 89,156,248	D309V	probably benign	Het
Olfr147	A	T	9: 38,403,566	I228F	probably damaging	Het
Olfr96	A	T	17: 37,225,895	M257L	probably benign	Het
Otop3	T	A	11: 115,339,588	V97D	probably damaging	Het
Ovgp1	A	G	3: 105,986,521		probably benign	Het
Pdc	T	C	1: 150,333,270	I168T	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plekha7	A	T	7: 116,237,480	F18I	probably benign	Het
Plppr4	A	G	3: 117,321,949	I753T	possibly damaging	Het
Pms2	T	G	5: 143,914,633	S123A	possibly damaging	Het
Pou4f2	T	A	8: 78,436,502		probably benign	Het
Ptch1	A	T	13: 63,523,061	L885Q	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rgs11	T	A	17: 26,205,195		probably null	Het
Samd3	T	A	10: 26,233,518		probably null	Het
Slit3	A	G	11: 35,700,408	D1349G	probably benign	Het
Sorbs2	A	T	8: 45,796,556	Q868L	probably null	Het
Speer4f1	T	A	5: 17,479,530	S185R	probably damaging	Het
Spin2f	A	G	X: 31,254,699	K28R	probably benign	Het
Tas2r125	T	G	6: 132,909,878	I76M	probably benign	Het
Tex15	A	T	8: 33,575,062	I1507F	probably damaging	Het
Tmem2	C	T	19: 21,807,461	A436V	probably damaging	Het
Vmn1r215	A	T	13: 23,076,545	I252F	probably damaging	Het
Vmn1r71	A	G	7: 10,748,725	F12S	possibly damaging	Het
Zfp128	A	G	7: 12,891,022	Y439C	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
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

Predicted Primers

PCR Primer
(F):5'- GCCATTTACACCCATCATGC -3'
(R):5'- CTCAGAAATGACCTTAACAGCTTTC -3'

Sequencing Primer
(F):5'- GCCATTTACACCCATCATGCATATG -3'
(R):5'- GAACTGTTGTTCTACAAAACAA -3'

Posted On

2019-12-03