Incidental Mutation 'R4463:Clns1a'
ID 330226
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 041721-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4463 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97345864-97370000 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 97370156 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

DomainStartEndE-ValueType
Pfam:Voldacs 40 168 1.2e-37 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000070021
AA Change: W2R
SMART Domains Protein: ENSMUSP00000065375
Gene: ENSMUSG00000056106
AA Change: W2R

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G probably damaging Het
Other mutations in Clns1a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-07-21