Incidental Mutation 'R6608:Clns1a'
ID 526420
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 044731-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 97345864-97370000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97365675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 226 (T226A)
Ref Sequence ENSEMBL: ENSMUSP00000026506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026506]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026506
AA Change: T226A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026506
Gene: ENSMUSG00000025439
AA Change: T226A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L 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
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
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'- CCTGATGTGATAGGACAGAGCG -3'
(R):5'- TTTCCAGTCACCAGAGATAGGC -3'

Sequencing Primer
(F):5'- CGATTGGGTCTCACATGTAGC -3'
(R):5'- TTCAGGGATCTTCATGTTG -3'
Posted On 2018-06-25