Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Clca1'

383063

Institutional Source

Beutler Lab

Gene Symbol

Clca1

Ensembl Gene

ENSMUSG00000028255

Gene Name

chloride channel accessory 1

Synonyms

gob-5, gob5, Clca3

MMRRC Submission

042539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145003817-145032776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145015653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 386 (I386L)

Ref Sequence

ENSEMBL: ENSMUSP00000029919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029919]

AlphaFold

Q9D7Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029919
AA Change: I386L

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

SMART Domains

Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: I386L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
VWA	305	478	5.05e-19	SMART
Blast:FN3	753	852	2e-28	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198832

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit an exacerbated mucin response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	C	3: 36,917,702	H528P	probably damaging	Het
4932438A13Rik	G	A	3: 36,919,901	S600N	probably benign	Het
A4galt	T	A	15: 83,228,328	I85F	probably damaging	Het
Abcc6	T	A	7: 46,012,523	I435F	probably benign	Het
Adam3	T	C	8: 24,677,316		probably benign	Het
Adrb3	T	C	8: 27,227,422	Y333C	probably damaging	Het
Ago4	A	T	4: 126,526,054	D43E	probably benign	Het
Agt	T	A	8: 124,556,988	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,531,601	D230E	probably damaging	Het
Aplf	A	G	6: 87,668,423	I33T	probably damaging	Het
Aplf	A	T	6: 87,646,349	N249K	probably benign	Het
Arap2	A	G	5: 62,749,478	M66T	probably benign	Het
Atf4	T	C	15: 80,256,233		probably benign	Het
AU019823	G	T	9: 50,607,509	Q268K	probably benign	Het
Bahcc1	A	C	11: 120,286,665	H2068P	probably benign	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Catsper1	C	A	19: 5,341,438	A616D	possibly damaging	Het
Ccdc94	A	G	17: 55,964,149	D97G	possibly damaging	Het
Cdkn3	A	G	14: 46,769,863	D159G	possibly damaging	Het
Cep162	T	C	9: 87,225,969		probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cmtm3	T	C	8: 104,343,828	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,152,925	L149R	probably benign	Het
Cope	T	C	8: 70,302,934		probably null	Het
Cpa6	T	A	1: 10,409,337	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,781,953		noncoding transcript	Het
Ddx55	T	A	5: 124,568,716	L592*	probably null	Het
Deup1	T	C	9: 15,588,027	M333V	probably benign	Het
Eif4a1	T	C	11: 69,667,814		probably benign	Het
Eif4g3	A	C	4: 138,170,565	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,051,199	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,160,767		probably benign	Het
Fam227a	C	A	15: 79,640,003		probably null	Het
Fat1	A	G	8: 45,036,275	I3505V	probably benign	Het
Fat3	T	G	9: 16,375,152	E1025A	probably damaging	Het
Fat4	C	T	3: 38,957,452	R2234W	probably damaging	Het
Fer1l4	G	T	2: 156,045,089	F634L	probably damaging	Het
Fetub	G	A	16: 22,937,874	V162I	probably benign	Het
Fgd4	T	C	16: 16,484,538	Q51R	probably benign	Het
Fgfr2	T	C	7: 130,198,445	H140R	probably benign	Het
Flt3	T	A	5: 147,356,375		probably null	Het
Gabrb1	A	G	5: 72,136,778	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,733,266	I206V	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Glp2r	T	C	11: 67,746,703		probably null	Het
Gm4956	T	A	1: 21,298,082		noncoding transcript	Het
Gtf2a1l	A	T	17: 88,714,922	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,619,063	W356R	probably damaging	Het
Idh2	A	T	7: 80,096,099	V335D	probably damaging	Het
Isyna1	T	C	8: 70,595,496	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,331,087	S320P	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,648,032	F524S	probably damaging	Het
Lap3	A	T	5: 45,506,197	M338L	probably benign	Het
Lins1	T	C	7: 66,709,450		probably benign	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc43	A	G	5: 123,501,063	D385G	probably benign	Het
Maf	T	C	8: 115,706,793	D24G	unknown	Het
Nell1	T	C	7: 50,062,638	S69P	probably benign	Het
Olfr1342	C	T	4: 118,689,892	V187I	possibly damaging	Het
Olfr1436	A	G	19: 12,298,896	S79P	possibly damaging	Het
Olfr531	T	A	7: 140,400,879	M56L	probably benign	Het
Olfr609	T	C	7: 103,492,251	D209G	probably damaging	Het
Olfr91	C	T	17: 37,093,592	G94E	probably damaging	Het
Olfr969	T	C	9: 39,795,864	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,457,036	T112A	probably benign	Het
Parp14	T	C	16: 35,846,033	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,412,834	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,356,006	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,662,606	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,738,132	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,119,886	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,151,565	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,997,264		probably null	Het
Pparg	T	A	6: 115,490,110	V478E	probably damaging	Het
Ppib	T	C	9: 66,060,390	V42A	probably benign	Het
Ppox	T	C	1: 171,277,593	M341V	probably damaging	Het
Proc	T	C	18: 32,125,113	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,392,765	P525L	probably damaging	Het
Rnf14	C	A	18: 38,308,382	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,912,008	P306L	probably damaging	Het
Sec14l5	A	G	16: 5,176,500	E386G	probably damaging	Het
Sftpa1	T	A	14: 41,132,552	I32N	probably damaging	Het
Slc26a5	A	G	5: 21,820,386	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467	Y438C	probably damaging	Het
Spire1	T	C	18: 67,519,314	E231G	possibly damaging	Het
Stab1	T	A	14: 31,151,571	I1014F	probably benign	Het
Steap2	T	C	5: 5,677,651	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,899,239	T1487A	probably benign	Het
Tmem171	A	G	13: 98,692,295	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,822,289	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,643,078	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,401,142	K617E	probably damaging	Het
Xrcc6	T	C	15: 82,039,812	L229P	probably damaging	Het
Zfp184	A	G	13: 21,949,721	D46G	probably damaging	Het
Zfp790	T	A	7: 29,829,491	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,536,837	N135I	probably damaging	Het

Other mutations in Clca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00664:Clca1	APN	3	145027899	missense	probably benign	0.01
IGL00862:Clca1	APN	3	145024571	missense	possibly damaging	0.89
IGL00895:Clca1	APN	3	145024596	missense	probably damaging	1.00
IGL00969:Clca1	APN	3	145008958	missense	possibly damaging	0.80
IGL01398:Clca1	APN	3	145016751	missense	possibly damaging	0.81
IGL01447:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01455:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01457:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01458:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01462:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01473:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01488:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01490:Clca1	APN	3	145007778	missense	probably benign	0.00
IGL01632:Clca1	APN	3	145027441	missense	probably damaging	1.00
IGL01896:Clca1	APN	3	145015677	missense	possibly damaging	0.79
IGL02411:Clca1	APN	3	145028002	missense	possibly damaging	0.89
IGL03156:Clca1	APN	3	145013911	missense	probably damaging	1.00
R0472:Clca1	UTSW	3	145027345	missense	probably damaging	1.00
R0571:Clca1	UTSW	3	145007789	missense	probably damaging	1.00
R0585:Clca1	UTSW	3	145032625	missense	probably benign	0.16
R0586:Clca1	UTSW	3	145032589	missense	probably benign	0.45
R0791:Clca1	UTSW	3	145004854	missense	probably benign	0.01
R1187:Clca1	UTSW	3	145009743	missense	probably benign	0.30
R1713:Clca1	UTSW	3	145024546	missense	probably benign	0.00
R1739:Clca1	UTSW	3	145007778	missense	probably benign	0.00
R2079:Clca1	UTSW	3	145007773	missense	possibly damaging	0.80
R2129:Clca1	UTSW	3	145016765	missense	probably damaging	1.00
R2178:Clca1	UTSW	3	145006102	missense	probably damaging	1.00
R2234:Clca1	UTSW	3	145009068	missense	possibly damaging	0.93
R2235:Clca1	UTSW	3	145009068	missense	possibly damaging	0.93
R2240:Clca1	UTSW	3	145008985	missense	probably damaging	1.00
R3751:Clca1	UTSW	3	145018663	missense	probably benign	0.01
R3974:Clca1	UTSW	3	145032639	missense	probably damaging	1.00
R3975:Clca1	UTSW	3	145032639	missense	probably damaging	1.00
R4409:Clca1	UTSW	3	145006027	missense	probably damaging	1.00
R4586:Clca1	UTSW	3	145016858	missense	probably damaging	1.00
R4751:Clca1	UTSW	3	145004848	missense	possibly damaging	0.89
R4894:Clca1	UTSW	3	145013901	missense	probably damaging	0.99
R4909:Clca1	UTSW	3	145024563	missense	probably damaging	1.00
R4916:Clca1	UTSW	3	145015844	missense	probably benign	0.01
R4942:Clca1	UTSW	3	145004763	missense	probably benign	0.02
R5044:Clca1	UTSW	3	145007928	splice site	probably null
R5451:Clca1	UTSW	3	145027986	missense	probably damaging	1.00
R5618:Clca1	UTSW	3	145004977	missense	probably benign	0.00
R5724:Clca1	UTSW	3	145009072	missense	probably benign	0.01
R5898:Clca1	UTSW	3	145016761	missense	possibly damaging	0.89
R6238:Clca1	UTSW	3	145008955	missense	probably benign	0.09
R6590:Clca1	UTSW	3	145013883	missense	probably damaging	1.00
R6591:Clca1	UTSW	3	145013883	missense	probably damaging	1.00
R6592:Clca1	UTSW	3	145013883	missense	probably damaging	1.00
R6690:Clca1	UTSW	3	145013883	missense	probably damaging	1.00
R6691:Clca1	UTSW	3	145013883	missense	probably damaging	1.00
R6729:Clca1	UTSW	3	145005966	missense	probably damaging	1.00
R6805:Clca1	UTSW	3	145018667	missense	probably damaging	1.00
R7106:Clca1	UTSW	3	145027429	missense	probably damaging	0.98
R7121:Clca1	UTSW	3	145011806	missense	probably damaging	1.00
R7127:Clca1	UTSW	3	145006045	missense	probably damaging	1.00
R7212:Clca1	UTSW	3	145005966	missense	probably damaging	1.00
R7444:Clca1	UTSW	3	145027432	missense	probably damaging	1.00
R7446:Clca1	UTSW	3	145027427	missense	possibly damaging	0.65
R7535:Clca1	UTSW	3	145018567	missense	probably damaging	0.99
R8437:Clca1	UTSW	3	145005061	missense	probably benign	0.00
R8474:Clca1	UTSW	3	145005031	missense	possibly damaging	0.77
R8766:Clca1	UTSW	3	145009178	splice site	probably benign
R8884:Clca1	UTSW	3	145013996	missense	probably benign	0.35
R9049:Clca1	UTSW	3	145027382	missense	probably benign	0.01
R9306:Clca1	UTSW	3	145024578	missense	probably damaging	1.00
R9623:Clca1	UTSW	3	145013937	missense	probably benign	0.03
X0020:Clca1	UTSW	3	145032660	missense	possibly damaging	0.89
Z1176:Clca1	UTSW	3	145013921	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCCATAACTAGCTCTGAGGGC -3'
(R):5'- TCGTCTTAACCGAATGAATCAGG -3'

Sequencing Primer
(F):5'- AGCTCTGAGGGCATAACTCTCTG -3'
(R):5'- GTCTTAACCGAATGAATCAGGCAAGC -3'

Posted On

2016-04-27