Incidental Mutation 'IGL03004:Clip3'
ID 407472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clip3
Ensembl Gene ENSMUSG00000013921
Gene Name CAP-GLY domain containing linker protein 3
Synonyms 1500005P14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # IGL03004
Quality Score
Status
Chromosome 7
Chromosomal Location 29991153-30007792 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29991789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 55 (Y55C)
Ref Sequence ENSEMBL: ENSMUSP00000121276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014065] [ENSMUST00000014072] [ENSMUST00000108187] [ENSMUST00000126216] [ENSMUST00000144508] [ENSMUST00000150892]
AlphaFold B9EHT4
Predicted Effect probably benign
Transcript: ENSMUST00000014065
AA Change: Y55C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921
AA Change: Y55C

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
ANK 117 155 1.04e2 SMART
ANK 160 191 3.74e0 SMART
ANK 197 226 3.54e-1 SMART
CAP_GLY 296 361 2.16e-33 SMART
low complexity region 367 379 N/A INTRINSIC
low complexity region 387 408 N/A INTRINSIC
CAP_GLY 418 483 1.4e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000014072
Predicted Effect probably benign
Transcript: ENSMUST00000108187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125935
Predicted Effect unknown
Transcript: ENSMUST00000126216
AA Change: Y55C
SMART Domains Protein: ENSMUSP00000123660
Gene: ENSMUSG00000013921
AA Change: Y55C

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000144508
AA Change: Y55C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121276
Gene: ENSMUSG00000013921
AA Change: Y55C

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145253
Predicted Effect probably damaging
Transcript: ENSMUST00000150892
AA Change: Y55C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123164
Gene: ENSMUSG00000013921
AA Change: Y55C

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
SCOP:d1sw6a_ 102 129 4e-3 SMART
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 member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired phrenic nerve-elicited muscle contraction, defects in diaphragm innervation, altered neuromuscular junction stability, abnormal motor innervation of other muscles, and complete neonatal lethality due to respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrx A T X: 104,876,115 (GRCm39) C78* probably null Het
Birc6 T A 17: 74,919,180 (GRCm39) N1999K probably benign Het
Bltp1 T A 3: 37,019,826 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,413 (GRCm39) R313Q probably benign Het
Ddit4l A G 3: 137,331,966 (GRCm39) N111D probably benign Het
Eprs1 T G 1: 185,114,030 (GRCm39) M326R probably damaging Het
F8 C T X: 74,255,658 (GRCm39) G2045D probably damaging Het
Fstl5 A G 3: 76,555,738 (GRCm39) probably benign Het
Gm10577 T C 4: 100,877,526 (GRCm39) probably benign Het
Heatr6 T C 11: 83,648,205 (GRCm39) S133P probably benign Het
Itpr3 T G 17: 27,316,952 (GRCm39) F736V possibly damaging Het
Klf8 T C X: 152,165,716 (GRCm39) L95P probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Map3k12 A G 15: 102,412,631 (GRCm39) V247A possibly damaging Het
Obscn A G 11: 58,919,413 (GRCm39) Y6211H probably damaging Het
Or1j19 A G 2: 36,677,194 (GRCm39) Y219C probably damaging Het
Pip4k2b A G 11: 97,615,300 (GRCm39) Y187H probably damaging Het
Rabggta A G 14: 55,956,687 (GRCm39) probably benign Het
Ranbp3 T A 17: 57,014,207 (GRCm39) V246E probably damaging Het
Rtf1 C A 2: 119,531,754 (GRCm39) probably benign Het
Sema3b G A 9: 107,480,114 (GRCm39) P208L possibly damaging Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Spam1 T C 6: 24,796,913 (GRCm39) V288A probably damaging Het
Stac A C 9: 111,431,608 (GRCm39) S248A probably benign Het
Tmem178b C A 6: 40,222,515 (GRCm39) R77S probably damaging Het
Vegfd T C X: 163,185,104 (GRCm39) L352P probably benign Het
Vmn1r176 A T 7: 23,534,702 (GRCm39) N150K probably damaging Het
Vmn1r230 T C 17: 21,067,772 (GRCm39) probably benign Het
Vsig10 A G 5: 117,463,140 (GRCm39) Y122C probably damaging Het
Xpo5 T A 17: 46,518,766 (GRCm39) V121E probably damaging Het
Zrsr2 T C X: 162,722,397 (GRCm39) Q285R probably benign Het
Other mutations in Clip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Clip3 APN 7 29,996,494 (GRCm39) splice site probably benign
IGL01642:Clip3 APN 7 29,998,287 (GRCm39) missense probably benign 0.11
R0152:Clip3 UTSW 7 30,002,857 (GRCm39) missense probably benign 0.15
R1474:Clip3 UTSW 7 29,998,307 (GRCm39) missense possibly damaging 0.57
R1778:Clip3 UTSW 7 29,996,861 (GRCm39) missense probably damaging 1.00
R5024:Clip3 UTSW 7 29,991,644 (GRCm39) unclassified probably benign
R5561:Clip3 UTSW 7 29,998,274 (GRCm39) missense possibly damaging 0.93
R5908:Clip3 UTSW 7 29,996,298 (GRCm39) missense probably damaging 0.99
R5912:Clip3 UTSW 7 29,998,295 (GRCm39) missense probably benign 0.22
R5941:Clip3 UTSW 7 29,991,731 (GRCm39) missense probably damaging 1.00
R7283:Clip3 UTSW 7 30,005,237 (GRCm39) missense probably damaging 1.00
R7471:Clip3 UTSW 7 30,001,377 (GRCm39) missense possibly damaging 0.89
R7516:Clip3 UTSW 7 29,998,268 (GRCm39) missense possibly damaging 0.90
R9259:Clip3 UTSW 7 29,998,375 (GRCm39) missense probably benign 0.31
Z1176:Clip3 UTSW 7 29,998,263 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02