Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Clca1'

190750

Institutional Source

Beutler Lab

Gene Symbol

Clca1

Ensembl Gene

ENSMUSG00000028255

Gene Name

chloride channel accessory 1

Synonyms

gob-5, gob5, Clca3

MMRRC Submission

039746-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1713 (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 145024546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 179 (K179N)

Ref Sequence

ENSEMBL: ENSMUSP00000029919 (fasta)

Gene Model

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

AlphaFold

Q9D7Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000029919
AA Change: K179N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: K179N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,767	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,332,349	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,316,309	F44L	probably benign	Het
Ahnak	G	A	19: 9,011,809	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,039,345		probably null	Het
Anks6	T	A	4: 47,039,726	Q495L	probably benign	Het
Arpp21	A	G	9: 112,067,169	S684P	probably damaging	Het
Ash1l	A	G	3: 89,076,224	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,124,809	E70K	probably damaging	Het
Btbd17	G	T	11: 114,795,824	P9T	probably benign	Het
C4b	A	G	17: 34,729,271		probably benign	Het
Carm1	T	C	9: 21,586,489	V385A	probably damaging	Het
Casd1	A	G	6: 4,624,104	D299G	probably damaging	Het
Col1a2	T	C	6: 4,538,691	S1204P	unknown	Het
Col24a1	C	T	3: 145,366,869	Q780*	probably null	Het
Cxadr	C	A	16: 78,334,245	N216K	probably damaging	Het
Daam1	C	T	12: 71,895,882	T40I	unknown	Het
Dab2	C	T	15: 6,429,701	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,279,182	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,752,690	S1954R	possibly damaging	Het
Dync2h1	T	C	9: 7,131,891	T1639A	probably benign	Het
Ebf1	A	T	11: 44,924,566	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,625,684	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,014,563	I110T	probably benign	Het
Galk2	A	G	2: 125,931,290	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448	T806A	probably benign	Het
Impg2	A	G	16: 56,260,526	T789A	probably benign	Het
Itga6	A	G	2: 71,787,202	T22A	probably benign	Het
Itgb4	T	A	11: 116,003,489	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,298,484	D160G	probably benign	Het
Kdr	A	G	5: 75,968,467	V173A	probably benign	Het
Kif14	T	C	1: 136,527,464	S1575P	probably benign	Het
Lcp1	G	A	14: 75,199,444		probably null	Het
Lipe	C	A	7: 25,385,325	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,378,694	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,249,571	E1012K	probably benign	Het
Map3k5	T	C	10: 20,110,847	F936L	possibly damaging	Het
Mllt3	A	T	4: 87,783,664	N497K	probably damaging	Het
Moxd1	G	A	10: 24,281,496	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,839	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,595,234		probably benign	Het
Nop56	T	C	2: 130,277,966	V109A	possibly damaging	Het
Obscn	T	C	11: 59,079,886	D2540G	probably damaging	Het
Olfr1121	A	T	2: 87,371,946	Y138F	probably damaging	Het
Olfr1495	A	T	19: 13,769,295	T318S	probably benign	Het
Omg	T	C	11: 79,502,853	I60V	probably benign	Het
Osbpl5	G	A	7: 143,694,373	H652Y	probably damaging	Het
Papd7	A	T	13: 69,503,051	I565N	probably benign	Het
Parvb	T	C	15: 84,297,991		probably benign	Het
Pcdhb3	A	C	18: 37,303,322	E780D	probably benign	Het
Pik3c3	A	G	18: 30,323,586	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,795,094	V3172A	probably benign	Het
Psme4	G	T	11: 30,806,310	W272L	probably damaging	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rhobtb1	A	C	10: 69,272,771	S434R	probably benign	Het
Rhobtb1	G	C	10: 69,272,772	S434T	possibly damaging	Het
Rnf8	T	C	17: 29,634,761	F413S	probably damaging	Het
Rpn2	A	G	2: 157,314,968	N497S	probably damaging	Het
Rsbn1l	G	T	5: 20,951,490	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,155,434	M246K	probably benign	Het
Sgsm2	T	C	11: 74,896,826	E19G	probably null	Het
Shank1	A	G	7: 44,319,737	H352R	unknown	Het
Slc17a7	A	G	7: 45,170,304	I177V	probably benign	Het
Slc28a2	T	A	2: 122,451,013	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,170,549	V35I	probably benign	Het
Slc38a1	T	C	15: 96,578,760	I407V	probably damaging	Het
Slc39a13	A	G	2: 91,063,097	V326A	probably damaging	Het
Slc44a5	T	C	3: 154,239,106	L120P	probably damaging	Het
Slfn3	T	C	11: 83,213,314	I214T	probably damaging	Het
Slitrk3	A	C	3: 73,049,691	S583A	probably benign	Het
Snx14	T	C	9: 88,415,675	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,996,242	K1483I	probably benign	Het
Ssrp1	C	A	2: 85,040,760	H247N	probably damaging	Het
Stk39	A	T	2: 68,307,116		probably benign	Het
Syde1	C	T	10: 78,585,696	G674R	probably damaging	Het
Themis3	G	A	17: 66,555,853	S370L	probably benign	Het
Tll1	T	A	8: 64,101,873	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,503,831		probably benign	Het
Top2b	T	C	14: 16,409,823	V830A	probably benign	Het
Trpm8	T	A	1: 88,365,080	N934K	probably damaging	Het
Ttc14	A	G	3: 33,802,920	Y179C	probably damaging	Het
Ttn	T	G	2: 76,743,621	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,487,699	V52A	probably benign	Het
Vamp8	T	A	6: 72,388,287	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,606,863	H230L	probably benign	Het
Vmn2r50	T	G	7: 10,037,804	T657P	probably damaging	Het
Xirp2	G	A	2: 67,512,418	G1668R	probably benign	Het
Zik1	C	A	7: 10,490,384	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,283,691	Y99D	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
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
R4941:Clca1	UTSW	3	145015653	missense	probably damaging	1.00
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'- ACTCTGGGATGTGATCTGTGTGACC -3'
(R):5'- TCCTCAACAAGACCAAGCAGTGTG -3'

Sequencing Primer
(F):5'- CCTGGCAGTGACTTACCAAGTAG -3'
(R):5'- GACCAGGGTATGAATAATTCCCTCG -3'

Posted On

2014-05-14