Incidental Mutation 'R5574:Clns1a'
ID 437111
Institutional Source Beutler Lab
Gene Symbol Clns1a
Ensembl Gene ENSMUSG00000025439
Gene Name chloride channel, nucleotide-sensitive, 1A
Synonyms Clci, ICLN, Clcni, 2610100O04Rik, 2610036D06Rik
MMRRC Submission 043129-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R5574 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97696634-97720796 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 97720958 bp (GRCm38)
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: T5A
SMART Domains Protein: ENSMUSP00000065375
Gene: ENSMUSG00000056106
AA Change: T5A

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: 99.9%
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,142,756 N31I possibly damaging Het
3110002H16Rik CTGTGTGTT CTGTGTGTTGTGTGTT 18: 12,185,006 probably null Het
Acvr1b T A 15: 101,202,077 M304K probably benign Het
Adamts1 G T 16: 85,799,642 D106E probably damaging Het
Blm C A 7: 80,499,773 C696F probably damaging Het
Bnip3l-ps T A 12: 18,217,118 noncoding transcript Het
C87499 T G 4: 88,628,043 E354A probably benign Het
Ccdc171 A T 4: 83,693,753 N895I probably damaging Het
Cdhr4 A T 9: 107,993,328 probably benign Het
Cfap97 T C 8: 46,170,142 S190P probably damaging Het
Chrnb1 A C 11: 69,793,683 probably benign Het
Col8a2 G A 4: 126,311,268 probably benign Het
Cr2 T A 1: 195,141,236 E721V probably damaging Het
Csk A G 9: 57,629,301 V172A probably benign Het
Cyp2g1 G A 7: 26,820,740 V466M possibly damaging Het
Cyp4f13 A G 17: 32,929,205 Y349H probably benign Het
Dnm1l T C 16: 16,329,821 Y205C probably damaging Het
Dync1i2 A T 2: 71,233,650 T113S probably benign Het
Edem2 T C 2: 155,716,155 E186G probably damaging Het
Eya2 G A 2: 165,763,816 R380H probably damaging Het
Fam214a A T 9: 75,010,390 D757V probably damaging Het
Fam60a C T 6: 148,944,880 probably benign Het
Gldn A G 9: 54,312,922 T132A probably damaging Het
Gm13941 A T 2: 111,100,606 I74K unknown Het
Gm3898 C T 9: 43,830,042 noncoding transcript Het
Ighmbp2 C T 19: 3,271,536 V408I probably benign Het
Klhdc10 C T 6: 30,439,865 L127F possibly damaging Het
Letm1 G A 5: 33,769,386 T189M possibly damaging Het
Lrrc17 A T 5: 21,570,357 I306F possibly damaging Het
Lrrk2 T A 15: 91,787,016 V2000E probably damaging Het
Mettl9 A T 7: 121,047,870 E66D probably benign Het
Mroh1 T A 15: 76,433,931 V877D probably benign Het
Mycbp2 C T 14: 103,142,767 V3760M possibly damaging Het
Nos3 A G 5: 24,368,861 T208A possibly damaging Het
Npdc1 G A 2: 25,408,945 D284N probably damaging Het
Obp2a A T 2: 25,700,830 T70S possibly damaging Het
Olfr1040 T C 2: 86,146,191 D181G probably damaging Het
Olfr1100 A G 2: 86,978,523 V91A probably benign Het
Olfr1245 C T 2: 89,574,977 V250I possibly damaging Het
Olfr145 A T 9: 37,897,581 Y59F probably damaging Het
Olfr69 T G 7: 103,768,116 I94L possibly damaging Het
Pate2 A G 9: 35,686,115 probably benign Het
Pdzph1 A G 17: 58,973,947 F447L probably benign Het
Pias1 A G 9: 62,920,493 C211R probably damaging Het
Plb1 A G 5: 32,329,947 S929G probably benign Het
Prc1 G A 7: 80,294,542 probably benign Het
Prex2 A G 1: 11,140,058 D574G probably damaging Het
Rapgef4 G A 2: 72,034,120 probably null Het
Rock2 T C 12: 16,961,641 M690T possibly damaging Het
Slc18a2 A G 19: 59,261,405 I25V probably benign Het
Slc9a5 T A 8: 105,364,691 I701K probably benign Het
Sorcs1 T A 19: 50,222,133 N765Y probably damaging Het
Ssh2 A T 11: 77,450,115 I698L probably benign Het
Stam A G 2: 14,115,864 D58G probably damaging Het
Thsd4 C A 9: 59,972,400 R1018L probably damaging Het
Tnxb A G 17: 34,711,024 T2911A probably benign Het
Trpm7 A C 2: 126,813,030 F1329L probably benign Het
Ttll9 A G 2: 152,984,248 E126G possibly damaging Het
Tubgcp5 G A 7: 55,805,329 V258M probably benign Het
Unc45a G A 7: 80,334,856 A232V probably damaging Het
Utp14b G A 1: 78,666,409 V675M probably damaging Het
Vmn2r67 T A 7: 85,151,891 H279L probably benign Het
Vmn2r75 G T 7: 86,166,302 A118E probably benign Het
Wdr36 A T 18: 32,865,959 Q886L probably damaging Het
Zfp433 T A 10: 81,719,291 Y27* probably null Het
Zfp715 A T 7: 43,311,039 S43T possibly damaging Het
Zfyve26 A G 12: 79,239,924 S2297P possibly damaging Het
Other mutations in Clns1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Clns1a APN 7 97716514 missense probably damaging 0.99
IGL03209:Clns1a APN 7 97711730 missense probably null 0.05
R0234:Clns1a UTSW 7 97714032 missense possibly damaging 0.93
R0234:Clns1a UTSW 7 97714032 missense possibly damaging 0.93
R1087:Clns1a UTSW 7 97705655 missense possibly damaging 0.63
R1844:Clns1a UTSW 7 97696859 missense probably damaging 0.97
R2119:Clns1a UTSW 7 97713904 splice site probably null
R3797:Clns1a UTSW 7 97696835 missense probably benign 0.00
R4463:Clns1a UTSW 7 97720949 unclassified probably benign
R4810:Clns1a UTSW 7 97714017 missense probably benign 0.10
R6608:Clns1a UTSW 7 97716468 missense probably benign 0.00
R7051:Clns1a UTSW 7 97712617 splice site probably null
R7384:Clns1a UTSW 7 97696781 missense probably benign 0.00
R8183:Clns1a UTSW 7 97705681 missense probably damaging 1.00
R8770:Clns1a UTSW 7 97713910 missense probably benign 0.01
R9131:Clns1a UTSW 7 97713918 missense probably damaging 0.98
R9328:Clns1a UTSW 7 97714033 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