Incidental Mutation 'R3965:Clic6'
ID 312327
Institutional Source Beutler Lab
Gene Symbol Clic6
Ensembl Gene ENSMUSG00000022949
Gene Name chloride intracellular channel 6
Synonyms CLIC1L, 5730466J16Rik
MMRRC Submission 040934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R3965 (G1)
Quality Score 203
Status Validated
Chromosome 16
Chromosomal Location 92295035-92338129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92295732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 131 (S131P)
Ref Sequence ENSEMBL: ENSMUSP00000023670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023670] [ENSMUST00000162181]
AlphaFold Q8BHB9
Predicted Effect probably benign
Transcript: ENSMUST00000023670
AA Change: S131P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: S131P

DomainStartEndE-ValueType
low complexity region 38 46 N/A INTRINSIC
low complexity region 62 74 N/A INTRINSIC
low complexity region 83 108 N/A INTRINSIC
low complexity region 151 169 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
low complexity region 225 245 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
low complexity region 308 318 N/A INTRINSIC
Pfam:GST_N_3 375 447 2e-9 PFAM
Pfam:GST_C_2 478 567 1.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160494
SMART Domains Protein: ENSMUSP00000123968
Gene: ENSMUSG00000051297

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162181
SMART Domains Protein: ENSMUSP00000124498
Gene: ENSMUSG00000022949

DomainStartEndE-ValueType
Pfam:GST_N_3 34 100 2.8e-10 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
Ccdc121 T A 5: 31,645,335 (GRCm39) C363S probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Cfap74 T A 4: 155,531,174 (GRCm39) M809K probably damaging Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlec1 A G 9: 118,957,649 (GRCm39) I878V probably benign Het
Elapor1 T C 3: 108,365,765 (GRCm39) D998G probably damaging Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Ewsr1 T C 11: 5,033,476 (GRCm39) Y232C unknown Het
Exoc2 G A 13: 31,061,565 (GRCm39) S492L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Grin2c G A 11: 115,151,820 (GRCm39) R47W probably damaging Het
Igfn1 T C 1: 135,895,557 (GRCm39) T1670A probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mia2 T A 12: 59,223,158 (GRCm39) S489T probably damaging Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Nckap1l T A 15: 103,373,016 (GRCm39) C276* probably null Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Oas1c A G 5: 120,946,783 (GRCm39) F16L probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1ab2 G A 8: 72,864,108 (GRCm39) G233R probably damaging Het
Or5b123 T C 19: 13,596,565 (GRCm39) L13P probably damaging Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pik3c2g A G 6: 139,801,018 (GRCm39) M388V possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppp6r2 A G 15: 89,143,317 (GRCm39) K155E probably benign Het
Rxra T A 2: 27,642,318 (GRCm39) probably benign Het
Susd5 A G 9: 113,925,260 (GRCm39) E381G possibly damaging Het
Svs5 T C 2: 164,079,662 (GRCm39) T82A possibly damaging Het
Syt14 A T 1: 192,584,175 (GRCm39) H413Q probably benign Het
Tg T A 15: 66,556,039 (GRCm39) D910E probably benign Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tpcn1 G T 5: 120,694,640 (GRCm39) T143K probably damaging Het
Trbv5 G T 6: 41,039,342 (GRCm39) probably benign Het
Trhr T A 15: 44,061,095 (GRCm39) I205N possibly damaging Het
Trp73 A G 4: 154,146,493 (GRCm39) V422A probably benign Het
Trpc6 G A 9: 8,626,622 (GRCm39) C324Y probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Zfhx4 G T 3: 5,468,907 (GRCm39) V3022F probably damaging Het
Zswim8 G A 14: 20,763,141 (GRCm39) V347I probably benign Het
Other mutations in Clic6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Clic6 APN 16 92,296,196 (GRCm39) missense probably damaging 0.99
IGL02104:Clic6 APN 16 92,295,367 (GRCm39) missense possibly damaging 0.72
IGL02387:Clic6 APN 16 92,326,807 (GRCm39) missense probably damaging 1.00
IGL02437:Clic6 APN 16 92,327,817 (GRCm39) missense probably damaging 1.00
IGL02617:Clic6 APN 16 92,296,206 (GRCm39) missense probably benign 0.00
unsweetened UTSW 16 92,327,697 (GRCm39) missense possibly damaging 0.79
R1544:Clic6 UTSW 16 92,288,961 (GRCm39) intron probably benign
R1677:Clic6 UTSW 16 92,324,972 (GRCm39) missense probably damaging 1.00
R2149:Clic6 UTSW 16 92,296,095 (GRCm39) missense probably benign 0.00
R4171:Clic6 UTSW 16 92,293,949 (GRCm39) intron probably benign
R4545:Clic6 UTSW 16 92,289,045 (GRCm39) intron probably benign
R4637:Clic6 UTSW 16 92,293,949 (GRCm39) intron probably benign
R4649:Clic6 UTSW 16 92,327,827 (GRCm39) critical splice donor site probably null
R5159:Clic6 UTSW 16 92,324,954 (GRCm39) missense probably benign 0.13
R5249:Clic6 UTSW 16 92,336,339 (GRCm39) missense probably damaging 1.00
R5486:Clic6 UTSW 16 92,326,740 (GRCm39) splice site probably null
R5582:Clic6 UTSW 16 92,296,342 (GRCm39) missense possibly damaging 0.93
R6140:Clic6 UTSW 16 92,336,380 (GRCm39) missense probably damaging 1.00
R6234:Clic6 UTSW 16 92,296,110 (GRCm39) missense probably benign
R6379:Clic6 UTSW 16 92,336,423 (GRCm39) missense probably damaging 1.00
R6593:Clic6 UTSW 16 92,325,005 (GRCm39) missense possibly damaging 0.82
R7890:Clic6 UTSW 16 92,296,275 (GRCm39) missense probably benign 0.41
R8794:Clic6 UTSW 16 92,324,987 (GRCm39) missense possibly damaging 0.91
R8937:Clic6 UTSW 16 92,296,245 (GRCm39) missense probably damaging 0.98
R9450:Clic6 UTSW 16 92,327,644 (GRCm39) missense possibly damaging 0.95
R9502:Clic6 UTSW 16 92,295,588 (GRCm39) missense probably damaging 1.00
RF012:Clic6 UTSW 16 92,327,697 (GRCm39) missense possibly damaging 0.79
X0058:Clic6 UTSW 16 92,295,595 (GRCm39) missense probably benign
Z1176:Clic6 UTSW 16 92,295,783 (GRCm39) missense probably benign 0.26
Z1177:Clic6 UTSW 16 92,296,027 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TTCGCTTCTAGAACCGCGAG -3'
(R):5'- ATGTTGTCCCCTGCAAGTCC -3'

Sequencing Primer
(F):5'- AAGGAGGTCGCTCCAGGTTC -3'
(R):5'- CCCTGGACTTCTGGGTTGATC -3'
Posted On 2015-04-29