Mutagenetix > Incidental Mutation

Incidental Mutation 'R6193:Clca3a1'

502698

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

044333-MU

Accession Numbers

Essential gene?

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

Stock #

R6193 (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 G at 144759232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932
AA Change: V80A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: V80A

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: V80A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: V80A

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,920,780	I106T	probably benign	Het
Aagab	A	C	9: 63,617,513	N35H	possibly damaging	Het
Abcf1	A	C	17: 35,963,572	N161K	possibly damaging	Het
Adam11	T	A	11: 102,771,261	H140Q	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,339,792	D99V	possibly damaging	Het
Arhgef28	A	G	13: 97,985,380	S559P	probably damaging	Het
C130060K24Rik	T	A	6: 65,456,158	F321I	probably damaging	Het
Capn11	A	G	17: 45,653,504		probably null	Het
Ccdc157	T	C	11: 4,151,912	H3R	probably damaging	Het
Cd101	A	G	3: 101,020,462	L101P	probably damaging	Het
Cnot6	T	A	11: 49,680,023	I381F	probably benign	Het
Cntn3	T	A	6: 102,208,131	I675F	probably benign	Het
Cplx2	C	T	13: 54,379,593	P97S	probably damaging	Het
Crtac1	T	A	19: 42,323,797	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,737,072	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,689,813		noncoding transcript	Het
Cyp2d9	A	G	15: 82,452,527	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,195,203	R503S	probably damaging	Het
Dclk1	A	T	3: 55,516,871		probably null	Het
Dgkq	A	T	5: 108,655,500	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,400,600		probably benign	Het
Ephx2	A	T	14: 66,089,512	D411E	probably benign	Het
Ephx2	T	G	14: 66,112,220	Q34P	probably benign	Het
Fam192a	A	G	8: 94,575,720	S228P	probably damaging	Het
Fer1l5	A	T	1: 36,409,436	N1092Y	probably benign	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fzd4	A	T	7: 89,407,989	K415*	probably null	Het
Gfi1	A	T	5: 107,721,531	Y278N	probably benign	Het
Gm11565	T	C	11: 99,915,244	M154T	probably benign	Het
Gm14548	C	G	7: 3,898,050		probably null	Het
Gm7247	A	G	14: 51,521,842	I93V	possibly damaging	Het
Golm1	T	G	13: 59,645,158	I178L	probably benign	Het
Grip1	A	T	10: 120,038,314	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,806,830		probably null	Het
Herc2	C	A	7: 56,156,901	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,335,166	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,222,825	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,440,772	Q222K	probably benign	Het
Klra6	A	T	6: 130,018,918	M159K	probably benign	Het
Lzts3	T	C	2: 130,637,386	T36A	probably damaging	Het
Mgam	T	A	6: 40,747,920	Y443*	probably null	Het
Mmp23	T	A	4: 155,651,533	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,518	V132E	probably damaging	Het
Npas2	C	A	1: 39,292,762	T86N	probably damaging	Het
Olfr1043	C	T	2: 86,162,284	V222M	possibly damaging	Het
Olfr392	T	A	11: 73,814,824	H86L	probably benign	Het
Papola	A	T	12: 105,820,346	E103V	probably benign	Het
Parp9	A	T	16: 35,947,551	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,720,324	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,322,027	Y487D	probably damaging	Het
Pla2g4a	T	C	1: 149,902,430	D5G	probably damaging	Het
Plxnb1	T	C	9: 109,104,903	L733P	probably benign	Het
Ppfia4	T	C	1: 134,324,161	D425G	probably benign	Het
Prss2	T	G	6: 41,521,820	I6S	unknown	Het
Qrich2	T	A	11: 116,454,153	I1693L	probably benign	Het
Rad52	T	C	6: 119,920,182	V324A	probably benign	Het
Rapgef2	A	T	3: 79,069,444	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,456,187	Y78S	probably damaging	Het
Scaf1	A	G	7: 45,006,780		probably benign	Het
Sfxn5	T	C	6: 85,269,936	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,243,357		probably null	Het
Syt1	A	G	10: 108,500,736	V357A	probably benign	Het
Tenm2	T	A	11: 36,046,794	D1685V	probably damaging	Het
Thegl	A	G	5: 77,016,336	D62G	possibly damaging	Het
Tmc3	A	G	7: 83,603,335	T315A	probably benign	Het
Tmem266	T	C	9: 55,437,209	L375P	probably benign	Het
Tsks	T	G	7: 44,953,839	L355R	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,275,319		probably null	Het
Usp37	A	T	1: 74,492,928	V102D	probably damaging	Het
Usp44	G	A	10: 93,847,148		probably benign	Het
Vmn2r115	T	C	17: 23,357,009	F527S	probably benign	Het
Zfp101	A	C	17: 33,381,746	Y345*	probably null	Het
Zfp160	C	A	17: 21,026,862	A558E	probably benign	Het
Zfp236	T	C	18: 82,604,247	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,244,776	D481E	probably benign	Het
Zswim4	A	G	8: 84,226,145	V396A	probably benign	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
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'- GTGGATGTGTACAAATAGTCCAC -3'
(R):5'- CACTTGAGGAAGAGGAGCCC -3'

Sequencing Primer
(F):5'- TGTGTACAAATAGTCCACACAAATG -3'
(R):5'- AAGAGGAGCCCCCGTTTG -3'

Posted On

2018-02-27