Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Clns1a'

572944

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

045466-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97345864-97370000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97345988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 18 (A18T)

Ref Sequence

ENSEMBL: ENSMUSP00000026506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026506] [ENSMUST00000107153]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026506
AA Change: A18T

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

SMART Domains

Protein: ENSMUSP00000026506
Gene: ENSMUSG00000025439
AA Change: A18T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107153

SMART Domains

Protein: ENSMUSP00000102771
Gene: ENSMUSG00000035623

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:WHIM1	88	138	2.2e-10	PFAM
Pfam:WHIM2	140	172	9.4e-8	PFAM
Pfam:WHIM3	178	398	2.5e-27	PFAM
low complexity region	743	758	N/A	INTRINSIC
low complexity region	845	859	N/A	INTRINSIC
low complexity region	863	872	N/A	INTRINSIC
PHD	881	927	1.57e-11	SMART
low complexity region	945	959	N/A	INTRINSIC
low complexity region	971	993	N/A	INTRINSIC
low complexity region	1011	1030	N/A	INTRINSIC
low complexity region	1072	1096	N/A	INTRINSIC
low complexity region	1110	1128	N/A	INTRINSIC
low complexity region	1133	1152	N/A	INTRINSIC
low complexity region	1160	1190	N/A	INTRINSIC
low complexity region	1192	1198	N/A	INTRINSIC
low complexity region	1234	1248	N/A	INTRINSIC
low complexity region	1268	1280	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,507,191 (GRCm39)	I65F	possibly damaging	Het
Abca13	C	A	11: 9,283,257 (GRCm39)	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,327,340 (GRCm39)	I41V	probably benign	Het
Acot2	T	C	12: 84,039,441 (GRCm39)	S317P	probably benign	Het
Acp7	T	C	7: 28,314,513 (GRCm39)	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,696,714 (GRCm39)	F148L	probably benign	Het
Adcy10	C	T	1: 165,404,177 (GRCm39)	P1611S	unknown	Het
Agr2	A	G	12: 36,045,923 (GRCm39)	T57A	probably damaging	Het
Ankar	T	G	1: 72,697,624 (GRCm39)	I1060L	probably benign	Het
Ano10	T	A	9: 122,005,409 (GRCm39)	D77V	unknown	Het
Anxa2r1	T	A	13: 120,496,797 (GRCm39)	Q24L	possibly damaging	Het
Apc2	G	A	10: 80,148,458 (GRCm39)	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,152,772 (GRCm39)	R19Q	not run	Het
Arhgap33	A	G	7: 30,226,696 (GRCm39)	S504P	probably damaging	Het
Atg2a	T	C	19: 6,311,707 (GRCm39)	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,512,331 (GRCm39)	S511G	probably benign	Het
Bcl10	A	G	3: 145,638,795 (GRCm39)	K146E	possibly damaging	Het
Bsg	A	T	10: 79,545,631 (GRCm39)	D181V	probably damaging	Het
Btg4	T	C	9: 51,030,413 (GRCm39)	V171A	probably benign	Het
Cdh8	A	C	8: 99,957,138 (GRCm39)	N188K	probably benign	Het
Cflar	C	A	1: 58,791,735 (GRCm39)	T346K		Het
Chrna5	T	C	9: 54,912,117 (GRCm39)	S306P	probably damaging	Het
Cldn20	G	A	17: 3,582,886 (GRCm39)	G20R	probably damaging	Het
D130043K22Rik	A	G	13: 25,066,588 (GRCm39)	Y795C	probably damaging	Het
Dync1li2	A	C	8: 105,169,175 (GRCm39)	S38A	probably benign	Het
Dysf	A	G	6: 84,091,087 (GRCm39)	E1043G	probably benign	Het
Elapor1	A	T	3: 108,370,784 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,964,927 (GRCm39)	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,320,275 (GRCm39)	P729S	probably benign	Het
Eya1	T	A	1: 14,299,736 (GRCm39)	Y339F	probably damaging	Het
Faah	G	T	4: 115,862,364 (GRCm39)	N206K	probably damaging	Het
Fem1a	A	G	17: 56,564,537 (GRCm39)	E210G	probably benign	Het
Gcc2	T	A	10: 58,105,786 (GRCm39)	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,701,817 (GRCm39)	I123F	possibly damaging	Het
Gm3047	T	A	14: 4,558,271 (GRCm38)	N164K	probably damaging	Het
Gm3327	A	G	14: 44,362,334 (GRCm39)	K78E		Het
Herpud1	A	G	8: 95,116,005 (GRCm39)	I57V	probably damaging	Het
Homer1	A	T	13: 93,529,547 (GRCm39)	R285S	possibly damaging	Het
Hps6	T	A	19: 45,992,456 (GRCm39)	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,321,421 (GRCm39)	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,330,551 (GRCm39)	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,469,681 (GRCm39)	F97L	probably damaging	Het
Klf11	C	T	12: 24,703,742 (GRCm39)	T76I	probably damaging	Het
Ldlr	A	C	9: 21,651,090 (GRCm39)	T503P	probably benign	Het
Mapk3	G	C	7: 126,363,463 (GRCm39)	R279P		Het
Mb21d2	A	T	16: 28,647,664 (GRCm39)	D103E	probably benign	Het
Msh4	T	A	3: 153,594,385 (GRCm39)	M333L	probably benign	Het
Mycbp2	A	G	14: 103,513,829 (GRCm39)	I836T	probably damaging	Het
Myh1	A	T	11: 67,115,201 (GRCm39)	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,150,364 (GRCm39)	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,148,963 (GRCm39)	R190Q	not run	Het
Nop53	T	C	7: 15,673,420 (GRCm39)	T344A	probably damaging	Het
Or2r3	A	T	6: 42,448,257 (GRCm39)	L285Q	possibly damaging	Het
Or5an11	T	C	19: 12,246,440 (GRCm39)	V282A	possibly damaging	Het
Or7h8	A	G	9: 20,124,041 (GRCm39)	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,831,461 (GRCm39)	V266G	probably damaging	Het
Pde5a	A	G	3: 122,618,649 (GRCm39)	Y654C	probably damaging	Het
Polq	T	C	16: 36,849,780 (GRCm39)	S345P	probably damaging	Het
Polr1f	G	T	12: 33,483,631 (GRCm39)	G128W	probably damaging	Het
Prdm1	A	T	10: 44,334,503 (GRCm39)	C8S	probably benign	Het
Psg17	T	A	7: 18,552,585 (GRCm39)	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,325,312 (GRCm39)	S332T	possibly damaging	Het
Rac2	T	A	15: 78,446,131 (GRCm39)	K186*	probably null	Het
S100pbp	T	C	4: 129,075,702 (GRCm39)	N208D	probably benign	Het
Scaf11	A	T	15: 96,318,268 (GRCm39)	V432D	possibly damaging	Het
Skic3	A	C	13: 76,298,854 (GRCm39)	S1187R	possibly damaging	Het
Slc34a1	G	T	13: 55,550,747 (GRCm39)	C225F	probably benign	Het
Slc35e2	A	T	4: 155,695,089 (GRCm39)	M152L	probably benign	Het
Slc49a3	A	T	5: 108,593,926 (GRCm39)	I61K	probably damaging	Het
Slc9a4	T	A	1: 40,651,411 (GRCm39)	I563K	probably benign	Het
Sppl3	T	G	5: 115,199,700 (GRCm39)		probably null	Het
Stam	T	C	2: 14,139,241 (GRCm39)	F301L	probably benign	Het
Supt16	G	A	14: 52,418,619 (GRCm39)	R213W	probably damaging	Het
Tbc1d8	A	T	1: 39,433,179 (GRCm39)	D334E	probably benign	Het
Tmem87a	C	T	2: 120,202,004 (GRCm39)		probably null	Het
Tnk1	T	C	11: 69,742,447 (GRCm39)	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Tnxb	A	G	17: 34,937,492 (GRCm39)	D2947G	probably damaging	Het
Traf4	A	G	11: 78,051,617 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,045,218 (GRCm39)	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,775,993 (GRCm39)	T49A	probably benign	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,279,032 (GRCm39)		probably benign	Het
Unc79	G	T	12: 103,137,837 (GRCm39)	V2485L	probably benign	Het
Ush2a	T	C	1: 188,132,360 (GRCm39)	S861P	probably damaging	Het
Vcam1	A	G	3: 115,910,877 (GRCm39)	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,320,895 (GRCm39)	M81V	probably benign	Het
Zfp652	G	T	11: 95,643,830 (GRCm39)	V343L	probably 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
R5574:Clns1a	UTSW	7	97,370,165 (GRCm39)	unclassified	probably benign
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
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'- TCTCTATGGTCAACCGCATGC -3'
(R):5'- TGCAGACTCAAAACTCAACGTG -3'

Sequencing Primer
(F):5'- TCTATGGTCAACCGCATGCTAAGG -3'
(R):5'- CGGTTCGCACAGGTCGTTAG -3'

Posted On

2019-09-13