Mutagenetix > Incidental Mutation

Incidental Mutation 'R7731:Clca4a'

595813

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?

Possibly non essential (E-score: 0.252) question?

Stock #

R7731 (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 144952785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 890 (I890V)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029923
AA Change: I890V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: I890V

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: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	C	T	16: 13,677,759	R241C	probably damaging	Het
A430078G23Rik	G	A	8: 3,384,936	V194M	probably damaging	Het
A4gnt	A	G	9: 99,620,417	E210G	possibly damaging	Het
Accsl	T	C	2: 93,861,018	T372A	probably benign	Het
Adgrf5	T	A	17: 43,450,560	S1049T	probably damaging	Het
Agmo	G	A	12: 37,414,940	R405K	probably benign	Het
Akap3	A	G	6: 126,865,068	T217A	probably benign	Het
Ankfy1	T	A	11: 72,712,281	N45K	probably benign	Het
Ankrd11	G	A	8: 122,895,433	T560I	probably benign	Het
Aqp1	T	C	6: 55,345,819	Y186H	possibly damaging	Het
Arnt	T	C	3: 95,483,775	V320A	probably benign	Het
B230217C12Rik	T	C	11: 97,841,400	L2P	unknown	Het
Bco1	C	A	8: 117,131,068	S477R	possibly damaging	Het
Brd4	A	G	17: 32,211,224	S703P	possibly damaging	Het
Ceacam3	T	A	7: 17,158,350	N339K		Het
Cebpb	A	G	2: 167,689,206	D62G	probably damaging	Het
Cyp2d9	A	G	15: 82,455,432		probably null	Het
Cyth1	T	C	11: 118,169,053	T374A	possibly damaging	Het
Dennd3	A	T	15: 73,562,367	H962L	probably damaging	Het
Dhtkd1	T	G	2: 5,924,112	L249F	probably benign	Het
Dnah7b	T	A	1: 46,139,745	H859Q	probably benign	Het
E2f4	A	G	8: 105,298,633	D115G	probably damaging	Het
Exoc3l4	G	C	12: 111,430,748	D688H	possibly damaging	Het
Fan1	C	T	7: 64,372,696	V270I	probably benign	Het
Fat2	A	T	11: 55,310,706	I514N	probably damaging	Het
Fndc1	G	A	17: 7,773,439	T475I	unknown	Het
Fstl5	T	A	3: 76,661,762	I574N	probably damaging	Het
Fzd4	T	C	7: 89,408,050	V435A	possibly damaging	Het
Fzd6	T	C	15: 39,033,932	F492S	probably damaging	Het
Gm4924	T	A	10: 82,377,527	N386K	unknown	Het
Gm8994	A	G	6: 136,328,873	I111V	probably benign	Het
Hbp1	A	T	12: 31,933,368	D362E	possibly damaging	Het
Hectd4	A	C	5: 121,307,014	M105L	probably benign	Het
Hivep2	C	T	10: 14,149,714	P2424L	probably benign	Het
Hspa4	A	T	11: 53,266,964		probably null	Het
Igf2bp3	A	G	6: 49,134,731	V122A	probably damaging	Het
Ikzf2	A	T	1: 69,539,143	N402K	possibly damaging	Het
Ip6k1	T	C	9: 108,044,728	F207S	probably damaging	Het
Kbtbd8	C	A	6: 95,118,578	N24K	probably benign	Het
Krtap10-4	T	G	10: 77,826,820	T75P	unknown	Het
Macf1	C	A	4: 123,444,879	S4355I	probably benign	Het
Muc5b	A	T	7: 141,857,305		probably null	Het
Myo3a	G	A	2: 22,282,589	V179M	probably damaging	Het
Nup210	G	T	6: 91,071,888	T462K	possibly damaging	Het
Olfr1106	T	C	2: 87,049,234	M1V	probably null	Het
Olfr365	A	G	2: 37,201,549	M103V	probably benign	Het
Olfr561	A	G	7: 102,774,934	I137V	probably benign	Het
Olfr743	T	A	14: 50,533,684	S91T	probably damaging	Het
Olfr920	A	G	9: 38,756,246	Q186R	possibly damaging	Het
Ostn	G	A	16: 27,346,918	R119Q	probably damaging	Het
Pcdhga11	A	T	18: 37,756,511	N191Y	probably benign	Het
Pcsk6	A	T	7: 66,033,893	Q752L	probably benign	Het
Pfas	T	C	11: 69,000,045	T347A	probably damaging	Het
Pkd1	A	T	17: 24,573,898	R1520W	probably damaging	Het
Prpf8	T	C	11: 75,508,906	S2264P	probably damaging	Het
Ptcd1	C	A	5: 145,151,364	R612S	probably benign	Het
Ptch2	T	A	4: 117,108,295	F359Y	probably benign	Het
Ptprr	A	C	10: 116,237,295	D474A	probably damaging	Het
Pum1	C	A	4: 130,762,963	Q846K	probably benign	Het
Slc22a14	C	T	9: 119,170,611	A505T	possibly damaging	Het
Smpdl3a	A	G	10: 57,802,554	Y151C	probably damaging	Het
Snrnp200	A	G	2: 127,229,102	N1101S	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Sptlc1	A	G	13: 53,333,957	V450A	probably benign	Het
Sqle	A	G	15: 59,315,972	Y43C	probably benign	Het
Srgap3	T	C	6: 112,766,897	H460R	probably benign	Het
Syt15	A	T	14: 34,223,067	E190D	possibly damaging	Het
Tbc1d10b	T	C	7: 127,198,821	K716R	probably benign	Het
Tbx20	T	C	9: 24,770,697	I120M	probably damaging	Het
Tgm1	T	G	14: 55,710,521	I274L	probably benign	Het
Tmem156	C	T	5: 65,075,562		probably null	Het
Tnk2	A	G	16: 32,670,134	D264G	possibly damaging	Het
Tsc22d4	A	G	5: 137,758,694	S306G	possibly damaging	Het
Tut1	T	A	19: 8,959,262	V150D	probably benign	Het
Uchl5	T	C	1: 143,794,537	F143L		Het
Vmn1r23	T	C	6: 57,926,334	K153R	probably benign	Het
Zfp236	A	T	18: 82,680,673	D94E	probably benign	Het
Zfp759	T	C	13: 67,139,626	Y414H	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGACCCTCTTGAAGTTACTTTTGAG -3'
(R):5'- CAACTCCGAGGAAACCTTTGC -3'

Sequencing Primer
(F):5'- GAAGTTACTTTTGAGTTCATGATGAC -3'
(R):5'- GAGGAAACCTTTGCCTTTAAACCAG -3'

Posted On

2019-11-12