Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Clns1a'

437111

Institutional Source

Beutler Lab

Gene Symbol

Clns1a

Ensembl Gene

ENSMUSG00000025439

Gene Name

chloride channel, nucleotide-sensitive, 1A

Synonyms

2610100O04Rik, 2610036D06Rik, Clci, Clcni, ICLN

MMRRC Submission

043129-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97345864-97370000 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 97370165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026506] [ENSMUST00000206389]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026506

SMART Domains

Protein: ENSMUSP00000026506
Gene: ENSMUSG00000025439

Domain	Start	End	E-Value	Type
Pfam:Voldacs	40	168	1.2e-37	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000070021
AA Change: T5A

SMART Domains

Protein: ENSMUSP00000065375
Gene: ENSMUSG00000056106
AA Change: T5A

Domain	Start	End	E-Value	Type
transmembrane domain	98	120	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205667

Predicted Effect

probably benign
Transcript: ENSMUST00000206389

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous mutants die between E3.5-E7.5. Heterozygous mutants appear normal and healthy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,380,205 (GRCm39)	N31I	possibly damaging	Het
Acvr1b	T	A	15: 101,099,958 (GRCm39)	M304K	probably benign	Het
Adamts1	G	T	16: 85,596,530 (GRCm39)	D106E	probably damaging	Het
Atosa	A	T	9: 74,917,672 (GRCm39)	D757V	probably damaging	Het
Blm	C	A	7: 80,149,521 (GRCm39)	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,267,119 (GRCm39)		noncoding transcript	Het
Ccdc171	A	T	4: 83,611,990 (GRCm39)	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,870,527 (GRCm39)		probably benign	Het
Cfap97	T	C	8: 46,623,179 (GRCm39)	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,684,509 (GRCm39)		probably benign	Het
Col8a2	G	A	4: 126,205,061 (GRCm39)		probably benign	Het
Cr2	T	A	1: 194,823,544 (GRCm39)	E721V	probably damaging	Het
Csk	A	G	9: 57,536,584 (GRCm39)	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,520,165 (GRCm39)	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 33,148,179 (GRCm39)	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,147,685 (GRCm39)	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,063,994 (GRCm39)	T113S	probably benign	Het
Edem2	T	C	2: 155,558,075 (GRCm39)	E186G	probably damaging	Het
Eya2	G	A	2: 165,605,736 (GRCm39)	R380H	probably damaging	Het
Gldn	A	G	9: 54,220,206 (GRCm39)	T132A	probably damaging	Het
Gm13941	A	T	2: 110,930,951 (GRCm39)	I74K	unknown	Het
Gm3898	C	T	9: 43,741,339 (GRCm39)		noncoding transcript	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,864 (GRCm39)	L127F	possibly damaging	Het
Letm1	G	A	5: 33,926,730 (GRCm39)	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,775,355 (GRCm39)	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,671,219 (GRCm39)	V2000E	probably damaging	Het
Mettl9	A	T	7: 120,647,093 (GRCm39)	E66D	probably benign	Het
Mroh1	T	A	15: 76,318,131 (GRCm39)	V877D	probably benign	Het
Mycbp2	C	T	14: 103,380,203 (GRCm39)	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,573,859 (GRCm39)	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Obp2a	A	T	2: 25,590,842 (GRCm39)	T70S	possibly damaging	Het
Or4a72	C	T	2: 89,405,321 (GRCm39)	V250I	possibly damaging	Het
Or52a5b	T	G	7: 103,417,323 (GRCm39)	I94L	possibly damaging	Het
Or5al6	T	C	2: 85,976,535 (GRCm39)	D181G	probably damaging	Het
Or8b8	A	T	9: 37,808,877 (GRCm39)	Y59F	probably damaging	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pate2	A	G	9: 35,597,411 (GRCm39)		probably benign	Het
Pdzph1	A	G	17: 59,280,942 (GRCm39)	F447L	probably benign	Het
Pias1	A	G	9: 62,827,775 (GRCm39)	C211R	probably damaging	Het
Plb1	A	G	5: 32,487,291 (GRCm39)	S929G	probably benign	Het
Pramel32	T	G	4: 88,546,280 (GRCm39)	E354A	probably benign	Het
Prc1	G	A	7: 79,944,290 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,210,282 (GRCm39)	D574G	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rmc1	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,318,063 (GRCm39)		probably null	Het
Rock2	T	C	12: 17,011,642 (GRCm39)	M690T	possibly damaging	Het
Sinhcaf	C	T	6: 148,846,378 (GRCm39)		probably benign	Het
Slc18a2	A	G	19: 59,249,837 (GRCm39)	I25V	probably benign	Het
Slc9a5	T	A	8: 106,091,323 (GRCm39)	I701K	probably benign	Het
Sorcs1	T	A	19: 50,210,571 (GRCm39)	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,340,941 (GRCm39)	I698L	probably benign	Het
Stam	A	G	2: 14,120,675 (GRCm39)	D58G	probably damaging	Het
Thsd4	C	A	9: 59,879,683 (GRCm39)	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,929,998 (GRCm39)	T2911A	probably benign	Het
Trpm7	A	C	2: 126,654,950 (GRCm39)	F1329L	probably benign	Het
Ttll9	A	G	2: 152,826,168 (GRCm39)	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Unc45a	G	A	7: 79,984,604 (GRCm39)	A232V	probably damaging	Het
Utp14b	G	A	1: 78,644,126 (GRCm39)	V675M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,099 (GRCm39)	H279L	probably benign	Het
Vmn2r75	G	T	7: 85,815,510 (GRCm39)	A118E	probably benign	Het
Wdr36	A	T	18: 32,999,012 (GRCm39)	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,555,125 (GRCm39)	Y27*	probably null	Het
Zfp715	A	T	7: 42,960,463 (GRCm39)	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,286,698 (GRCm39)	S2297P	possibly damaging	Het

Other mutations in Clns1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Clns1a	APN	7	97,365,721 (GRCm39)	missense	probably damaging	0.99
IGL03209:Clns1a	APN	7	97,360,937 (GRCm39)	missense	probably null	0.05
R0234:Clns1a	UTSW	7	97,363,239 (GRCm39)	missense	possibly damaging	0.93
R0234:Clns1a	UTSW	7	97,363,239 (GRCm39)	missense	possibly damaging	0.93
R1087:Clns1a	UTSW	7	97,354,862 (GRCm39)	missense	possibly damaging	0.63
R1844:Clns1a	UTSW	7	97,346,066 (GRCm39)	missense	probably damaging	0.97
R2119:Clns1a	UTSW	7	97,363,111 (GRCm39)	splice site	probably null
R3797:Clns1a	UTSW	7	97,346,042 (GRCm39)	missense	probably benign	0.00
R4463:Clns1a	UTSW	7	97,370,156 (GRCm39)	unclassified	probably benign
R4810:Clns1a	UTSW	7	97,363,224 (GRCm39)	missense	probably benign	0.10
R6608:Clns1a	UTSW	7	97,365,675 (GRCm39)	missense	probably benign	0.00
R7051:Clns1a	UTSW	7	97,361,824 (GRCm39)	splice site	probably null
R7384:Clns1a	UTSW	7	97,345,988 (GRCm39)	missense	probably benign	0.00
R8183:Clns1a	UTSW	7	97,354,888 (GRCm39)	missense	probably damaging	1.00
R8770:Clns1a	UTSW	7	97,363,117 (GRCm39)	missense	probably benign	0.01
R9131:Clns1a	UTSW	7	97,363,125 (GRCm39)	missense	probably damaging	0.98
R9328:Clns1a	UTSW	7	97,363,240 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTAGCTGCTAGGTCCTGCTG -3'
(R):5'- GGGTGCCATTTAGACTGATAGC -3'

Sequencing Primer
(F):5'- TAGGTCCTGCTGACAGCCTC -3'
(R):5'- CCATTTAGACTGATAGCAGAGAAAC -3'

Posted On

2016-10-26