Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Clca3a1'

47979

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

038707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 144760562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029932] [ENSMUST00000059091]

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	1	262	5.8e-144	PFAM
VWA	306	473	1.81e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000059091

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.44e-23	SMART
Blast:FN3	758	857	2e-44	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,469,659	T146A	probably benign	Het
4930452B06Rik	A	C	14: 8,536,609	D199E	probably damaging	Het
5830473C10Rik	A	T	5: 90,577,927	T333S	probably benign	Het
6720489N17Rik	A	C	13: 62,605,215	V99G	possibly damaging	Het
Abcg4	A	G	9: 44,281,687	S121P	possibly damaging	Het
Actr2	T	C	11: 20,080,124	T212A	probably damaging	Het
Adcy10	T	A	1: 165,519,519	D368E	probably benign	Het
Anapc15	T	C	7: 101,898,540		probably benign	Het
Aox4	A	G	1: 58,217,519	R67G	probably benign	Het
Aox4	A	G	1: 58,247,300	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,765	S755T	probably benign	Het
Atm	A	G	9: 53,503,948	V881A	probably benign	Het
Cd163l1	C	A	7: 140,224,960	C625*	probably null	Het
Cdkal1	C	T	13: 29,625,965		probably benign	Het
Cfap61	C	A	2: 146,035,295	N491K	possibly damaging	Het
Chgb	T	C	2: 132,785,977		probably benign	Het
Chrna1	C	A	2: 73,568,082		probably benign	Het
Chst10	A	G	1: 38,865,763	L283P	probably damaging	Het
Cryzl1	G	T	16: 91,699,287	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,576,547	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,898,091	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,200,308	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,654,928		probably benign	Het
Dag1	G	A	9: 108,208,485	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,656,495	L33P	probably benign	Het
Dlc1	C	T	8: 36,584,010	G856R	probably damaging	Het
Dst	T	A	1: 34,219,531		probably benign	Het
Dtl	A	T	1: 191,569,707	Y79*	probably null	Het
Egfr	T	G	11: 16,872,855	L406R	probably damaging	Het
Elp3	A	T	14: 65,563,246		probably null	Het
Fbxw19	C	A	9: 109,481,553		probably null	Het
Frs2	T	C	10: 117,074,665	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,361,880	V58L	probably damaging	Het
Gm17324	G	A	9: 78,448,725		probably benign	Het
Gm4787	A	T	12: 81,378,312	N357K	probably benign	Het
Gm9956	G	T	10: 56,745,195			Het
Gsg1l	C	T	7: 126,020,623		probably null	Het
Herc1	G	A	9: 66,445,645	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,706,324	L448P	probably benign	Het
Ing3	C	T	6: 21,970,035	S255L	probably damaging	Het
Ispd	A	T	12: 36,390,468	H125L	probably damaging	Het
Krt78	T	C	15: 101,950,949	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,729	L606H	probably damaging	Het
Lmod1	T	A	1: 135,325,168	N53K	probably damaging	Het
Lsr	G	C	7: 30,958,338	A467G	probably benign	Het
Mbtd1	T	A	11: 93,932,212		probably null	Het
Mill1	T	A	7: 18,264,877	Y337*	probably null	Het
Mlxipl	A	T	5: 135,137,263	Q833L	probably benign	Het
Mon2	C	T	10: 123,038,610	V278M	probably damaging	Het
Mxra8	A	C	4: 155,841,733	M180L	probably benign	Het
Myo18a	A	T	11: 77,811,594		probably benign	Het
Myo1c	T	G	11: 75,665,831		probably null	Het
Myo1g	T	C	11: 6,510,203	T782A	probably benign	Het
Ncapd3	A	G	9: 27,064,105		probably benign	Het
Neb	T	C	2: 52,308,687	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,195,185		probably benign	Het
Nf2	T	C	11: 4,791,185	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,603,846	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,084,159	D699N	probably damaging	Het
Nrbp2	C	T	15: 76,088,976	A45T	probably benign	Het
Obscn	A	G	11: 59,061,522	V3907A	possibly damaging	Het
Olfr11	A	T	13: 21,638,949	D191E	probably benign	Het
Olfr1371	T	C	11: 52,213,749	Q80R	possibly damaging	Het
Olfr145	A	T	9: 37,898,055	Y217F	probably damaging	Het
Pank2	C	T	2: 131,282,606	T290I	probably damaging	Het
Pbx4	T	C	8: 69,864,879	V171A	probably benign	Het
Pcgf1	G	T	6: 83,080,574	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,461,511	S778P	probably damaging	Het
Pld6	T	C	11: 59,785,221	I141M	probably damaging	Het
Polq	T	A	16: 37,094,502	V2508E	probably damaging	Het
Prkca	C	G	11: 108,014,376	D179H	possibly damaging	Het
Pspn	T	C	17: 56,999,720	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,503,746	T846I	probably benign	Het
Reg3g	A	C	6: 78,467,844	Y50*	probably null	Het
Rev3l	C	T	10: 39,828,143	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,912,991	Q611*	probably null	Het
Scgb1b20	G	A	7: 33,373,314		probably null	Het
Sfxn5	T	C	6: 85,269,973		probably benign	Het
Sh3tc1	T	A	5: 35,700,307	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,194,565	I37V	probably benign	Het
Slc35f5	T	C	1: 125,576,169		probably benign	Het
Slc8a2	A	C	7: 16,157,339	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,997,184		noncoding transcript	Het
Smurf2	T	A	11: 106,836,105	T453S	probably benign	Het
Spag16	A	G	1: 70,493,768		probably benign	Het
Spindoc	G	A	19: 7,374,144	T205I	probably benign	Het
Stab1	T	C	14: 31,148,945	I1316V	probably benign	Het
Stox2	T	C	8: 47,193,865	R187G	probably damaging	Het
Tcea2	A	C	2: 181,684,481	T93P	probably benign	Het
Tenm4	T	C	7: 96,895,623	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,960,461	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,053,529	H698L	probably benign	Het
Trim33	A	G	3: 103,310,384	D215G	probably damaging	Het
Ttc3	T	A	16: 94,426,212	I727N	probably damaging	Het
Ttn	T	A	2: 76,943,325	K2271N	probably damaging	Het
Ubr2	T	A	17: 46,986,779	K223*	probably null	Het
Ubr4	A	G	4: 139,416,875	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,003,412		probably benign	Het
Ulk4	T	A	9: 121,152,325	H880L	probably benign	Het
Unc80	G	A	1: 66,622,474	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,957,667	L60Q	unknown	Het
Usf2	A	T	7: 30,954,736		probably benign	Het
Usp21	T	A	1: 171,283,012		probably benign	Het
Usp21	T	A	1: 171,283,014		probably benign	Het
Vmn2r118	T	A	17: 55,610,970	K181*	probably null	Het
Vmn2r124	T	A	17: 18,073,729	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 86,228,779	G470V	probably benign	Het
Vps13c	A	C	9: 67,930,735	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210	L119F	probably damaging	Het
Wdfy3	T	A	5: 101,890,789	S2012C	probably damaging	Het
Zfp142	A	G	1: 74,571,555	V924A	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp235	T	C	7: 24,142,219	S688P	probably damaging	Het
Zfp39	C	T	11: 58,889,987	V650I	probably benign	Het
Zfp82	A	T	7: 30,056,840	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,823,264	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,244,484	D2116N	probably damaging	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Clca3a1	APN	3	144755251	missense	probably damaging	0.96
IGL01331:Clca3a1	APN	3	144747512	missense	probably damaging	1.00
IGL01895:Clca3a1	APN	3	144747572	nonsense	probably null
IGL01940:Clca3a1	APN	3	144746976	missense	probably benign	0.25
IGL02162:Clca3a1	APN	3	144754803	missense	probably damaging	0.98
IGL02200:Clca3a1	APN	3	144751929	splice site	probably benign
IGL03093:Clca3a1	APN	3	144747501	missense	probably damaging	0.99
Lucha	UTSW	3	144749689	missense	probably damaging	1.00
R0256:Clca3a1	UTSW	3	144730879	missense	probably damaging	0.98
R0543:Clca3a1	UTSW	3	144748394	splice site	probably benign
R1522:Clca3a1	UTSW	3	144755171	missense	probably benign	0.01
R1744:Clca3a1	UTSW	3	144746835	missense	probably damaging	0.99
R1873:Clca3a1	UTSW	3	144746829	missense	probably damaging	0.99
R2238:Clca3a1	UTSW	3	144752005	missense	possibly damaging	0.94
R2278:Clca3a1	UTSW	3	144758024	missense	probably damaging	0.99
R2516:Clca3a1	UTSW	3	144737858	splice site	probably null
R3737:Clca3a1	UTSW	3	144730721	missense	probably benign	0.01
R3981:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3982:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3983:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R4038:Clca3a1	UTSW	3	144755233	missense	probably benign	0.35
R4382:Clca3a1	UTSW	3	144760722	start codon destroyed	probably benign	0.08
R4543:Clca3a1	UTSW	3	144746988	missense	probably damaging	1.00
R4766:Clca3a1	UTSW	3	144749712	missense	probably damaging	1.00
R4899:Clca3a1	UTSW	3	144737961	missense	probably damaging	1.00
R5090:Clca3a1	UTSW	3	144737872	missense	probably benign	0.01
R5091:Clca3a1	UTSW	3	144730722	missense	probably benign	0.00
R5205:Clca3a1	UTSW	3	144746784	missense	possibly damaging	0.68
R5248:Clca3a1	UTSW	3	144737136	missense	possibly damaging	0.62
R5354:Clca3a1	UTSW	3	144737005	missense	possibly damaging	0.77
R5871:Clca3a1	UTSW	3	144754881	missense	probably damaging	1.00
R5907:Clca3a1	UTSW	3	144749642	intron	probably benign
R5976:Clca3a1	UTSW	3	144746875	missense	probably damaging	1.00
R6190:Clca3a1	UTSW	3	144758060	missense	probably benign	0.40
R6193:Clca3a1	UTSW	3	144759232	missense	possibly damaging	0.65
R6263:Clca3a1	UTSW	3	144749778	missense	probably damaging	1.00
R6299:Clca3a1	UTSW	3	144758514	missense	probably damaging	0.99
R6327:Clca3a1	UTSW	3	144730797	missense	probably benign	0.02
R6497:Clca3a1	UTSW	3	144759259	missense	possibly damaging	0.81
R6542:Clca3a1	UTSW	3	144759260	missense	probably benign	0.01
R6547:Clca3a1	UTSW	3	144736947	missense	probably damaging	1.00
R6759:Clca3a1	UTSW	3	144749689	missense	probably damaging	1.00
R7032:Clca3a1	UTSW	3	144747568	missense	probably benign	0.07
R7063:Clca3a1	UTSW	3	144755206	missense	probably damaging	0.97
R7139:Clca3a1	UTSW	3	144755302	missense	possibly damaging	0.58
R7638:Clca3a1	UTSW	3	144751962	missense	probably damaging	1.00
R7663:Clca3a1	UTSW	3	144737036	missense	probably benign	0.02
R7792:Clca3a1	UTSW	3	144749731	missense	possibly damaging	0.95
R7798:Clca3a1	UTSW	3	144757962	missense	probably damaging	1.00
R7892:Clca3a1	UTSW	3	144730818	missense	probably benign	0.00
R8096:Clca3a1	UTSW	3	144749685	missense	probably damaging	1.00
R8305:Clca3a1	UTSW	3	144759166	splice site	probably benign
R8416:Clca3a1	UTSW	3	144755153	critical splice donor site	probably null
R8446:Clca3a1	UTSW	3	144748487	missense	probably damaging	0.97
R8496:Clca3a1	UTSW	3	144747421	makesense	probably null
R9014:Clca3a1	UTSW	3	144736970	missense	probably benign	0.01
R9128:Clca3a1	UTSW	3	144758034	missense	probably damaging	1.00
R9601:Clca3a1	UTSW	3	144747549	missense	probably benign	0.27
Z1088:Clca3a1	UTSW	3	144746953	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAAGTTGAGCACGTAGGAGC -3'
(R):5'- TTCAAATTCCCGAGCGAGGCAC -3'

Sequencing Primer
(F):5'- ataaaGCTAGGCAAATTTCCATCTTG -3'
(R):5'- TTCTCACTGGAGCAGTGC -3'

Posted On

2013-06-12