Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Clca3a1'

553248

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

Accession Numbers

Essential gene?

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

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144755302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 196 (V196E)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029932
AA Change: V196E

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: V196E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059091
AA Change: V196E

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: V196E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,941,838	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,590,078	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,850,184	M480L	probably benign	Het
Abcd4	A	G	12: 84,606,298	C377R	probably benign	Het
Adam23	C	A	1: 63,545,577	D381E	probably damaging	Het
Angpt1	T	A	15: 42,676,351	Q37H	probably damaging	Het
Apeh	A	T	9: 108,092,146	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,889	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,666,721	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,415,359	S46G	unknown	Het
Cfc1	T	C	1: 34,536,479	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865	V2724A	probably benign	Het
Cma1	T	C	14: 55,943,816	H44R	probably damaging	Het
Cnot2	T	C	10: 116,495,019	N394S	probably benign	Het
Cstf3	A	T	2: 104,653,064	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 107,071,011	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,613,976	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,617,427	N36S	probably benign	Het
Dnah6	A	G	6: 73,135,680	V1647A	probably damaging	Het
Dock6	T	C	9: 21,801,276	Y2063C	probably damaging	Het
Dst	T	A	1: 34,299,807	D5149E	probably damaging	Het
Fancl	A	G	11: 26,403,358	M85V	probably benign	Het
Fgd2	T	A	17: 29,373,255	F387Y	probably damaging	Het
Fshr	A	T	17: 88,986,161	I363N	possibly damaging	Het
Glce	G	T	9: 62,070,434	S56*	probably null	Het
Gm26727	A	T	2: 67,433,037	S49T	unknown	Het
Gm36210	T	A	7: 4,899,278	D131V	probably damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
H2afy2	T	A	10: 61,757,895	M1L	unknown	Het
H2-Eb2	C	T	17: 34,334,421	R194W	probably benign	Het
Hivep1	A	T	13: 42,159,954	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,158,821	C5*	probably null	Het
Ighv2-5	T	A	12: 113,685,599	Y78F	probably benign	Het
Il9	C	T	13: 56,480,613	V88I	probably benign	Het
Kidins220	A	G	12: 24,994,821	T163A	probably damaging	Het
Lama4	G	T	10: 39,075,495	D1079Y	probably damaging	Het
Lman1l	A	T	9: 57,615,596	H160Q	probably benign	Het
Lrrc34	T	C	3: 30,624,887	I354V	probably benign	Het
Mpeg1	A	T	19: 12,461,714	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,426,589	L307H	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nav3	C	A	10: 109,853,477	S313I	probably benign	Het
Nmt2	T	G	2: 3,284,315	S7A	probably benign	Het
Nsmce1	T	C	7: 125,469,082	S197G	probably benign	Het
Ociad2	A	G	5: 73,335,875	V4A	probably benign	Het
Olfr680-ps1	G	T	7: 105,092,798	T7K	probably benign	Het
Osmr	T	C	15: 6,821,088	D679G	possibly damaging	Het
Pappa	T	A	4: 65,189,450	F699L	probably benign	Het
Parp8	T	A	13: 117,025,266	M40L	probably benign	Het
Pcyox1	A	T	6: 86,394,537	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,890,737	S1224G		Het
Pkd1l3	T	A	8: 109,636,340	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,631,077	V155A	probably benign	Het
Rbm6	A	C	9: 107,853,211	D79E	probably damaging	Het
Sec31b	A	T	19: 44,518,936	S819T	probably benign	Het
Slc22a27	A	T	19: 7,926,547	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,098,589	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,365,319	S612P	probably benign	Het
Slc7a2	A	T	8: 40,915,013	I605F	probably benign	Het
Slit2	A	G	5: 48,244,683	T805A	probably benign	Het
Strbp	A	T	2: 37,624,502	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,607,009	Q155*	probably null	Het
Sybu	A	T	15: 44,677,714	N317K	possibly damaging	Het
Taok1	G	A	11: 77,571,633	S210F	probably damaging	Het
Tapbp	A	G	17: 33,920,048	D72G	possibly damaging	Het
Thbd	G	T	2: 148,406,541	T469K	probably benign	Het
Tia1	T	C	6: 86,427,688	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,840,283	F438L	probably benign	Het
Tmem235	C	T	11: 117,860,897	S49L	probably damaging	Het
Trip4	A	G	9: 65,885,221		probably benign	Het
Trrap	C	A	5: 144,803,178	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,513,848	E109G	probably benign	Het
Wdfy4	T	C	14: 33,151,578	Y258C		Het
Wdr91	T	G	6: 34,908,263	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,890,559	H459R	probably damaging	Het
Zfp936	T	A	7: 43,190,291	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,281,059	D423N	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
R0513:Clca3a1	UTSW	3	144760562	critical splice donor site	probably null
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
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'- TTTTACACGCTTGGAGGGTC -3'
(R):5'- ATAGCAGTTGCCACAGAGAG -3'

Sequencing Primer
(F):5'- ACGCTTGGAGGGTCATCGAG -3'
(R):5'- CAGTTGCCACAGAGAGATTTTAG -3'

Posted On

2019-05-15