Incidental Mutation 'IGL00808:Clns1a'
ID 9736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clns1a
Ensembl Gene ENSMUSG00000025439
Gene Name chloride channel, nucleotide-sensitive, 1A
Synonyms 2610100O04Rik, 2610036D06Rik, Clci, Clcni, ICLN
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00808
Quality Score
Status
Chromosome 7
Chromosomal Location 97345864-97370000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97365721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 241 (H241R)
Ref Sequence ENSEMBL: ENSMUSP00000026506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026506]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026506
AA Change: H241R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026506
Gene: ENSMUSG00000025439
AA Change: H241R

DomainStartEndE-ValueType
Pfam:Voldacs 40 168 1.2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205667
Coding Region Coverage
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,314,377 (GRCm39) I297T probably damaging Het
Agtpbp1 T C 13: 59,609,908 (GRCm39) E131G possibly damaging Het
Ankrd12 A G 17: 66,290,960 (GRCm39) L1491S probably benign Het
Arid4b T C 13: 14,310,846 (GRCm39) probably null Het
Aspm T A 1: 139,389,214 (GRCm39) S626T probably benign Het
Catsperg1 A G 7: 28,897,571 (GRCm39) S238P probably damaging Het
Cryzl2 T C 1: 157,298,246 (GRCm39) F212L probably benign Het
Epha5 A T 5: 84,254,559 (GRCm39) V519E probably damaging Het
Kcnq3 T C 15: 65,867,603 (GRCm39) D680G possibly damaging Het
Kras T C 6: 145,192,474 (GRCm39) T20A probably damaging Het
Myh13 T C 11: 67,225,830 (GRCm39) probably null Het
Nbas T C 12: 13,616,121 (GRCm39) probably benign Het
Pde8a G A 7: 80,932,762 (GRCm39) probably null Het
Rasgef1a A T 6: 118,065,164 (GRCm39) K384M probably damaging Het
Selenov A G 7: 27,989,851 (GRCm39) S218P probably damaging Het
Tg T A 15: 66,555,662 (GRCm39) Y785N probably damaging Het
Ttll13 G T 7: 79,909,297 (GRCm39) A661S possibly damaging Het
Other mutations in Clns1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06