Incidental Mutation 'IGL01642:Clip3'
ID 93718
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: 0.842) question?
Stock # IGL01642
Quality Score
Status
Chromosome 7
Chromosomal Location 29991153-30007792 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 29996494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014065] [ENSMUST00000126216] [ENSMUST00000144508] [ENSMUST00000150892]
AlphaFold B9EHT4
Predicted Effect probably benign
Transcript: ENSMUST00000014065
SMART Domains Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921

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 noncoding transcript
Transcript: ENSMUST00000125935
Predicted Effect probably benign
Transcript: ENSMUST00000126216
SMART Domains Protein: ENSMUSP00000123660
Gene: ENSMUSG00000013921

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144508
SMART Domains Protein: ENSMUSP00000121276
Gene: ENSMUSG00000013921

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145253
Predicted Effect probably benign
Transcript: ENSMUST00000150892
SMART Domains Protein: ENSMUSP00000123164
Gene: ENSMUSG00000013921

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,486,514 (GRCm39) T18A possibly damaging Het
Abat A T 16: 8,418,783 (GRCm39) I126F possibly damaging Het
Adcy6 G A 15: 98,492,390 (GRCm39) A958V possibly damaging Het
Ago2 T C 15: 72,995,239 (GRCm39) I447V probably benign Het
Arid1a A G 4: 133,409,155 (GRCm39) V1784A unknown Het
Atp1b1 A G 1: 164,285,330 (GRCm39) F33L probably benign Het
Bpnt1 G A 1: 185,086,238 (GRCm39) V198I probably benign Het
Cemip2 T A 19: 21,801,265 (GRCm39) I794N probably damaging Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Cgas G A 9: 78,344,680 (GRCm39) P247L probably damaging Het
Cyp2a22 A T 7: 26,638,184 (GRCm39) N107K possibly damaging Het
Cyp2c23 A T 19: 43,993,995 (GRCm39) L457Q probably damaging Het
Dbr1 A G 9: 99,458,031 (GRCm39) Y17C probably damaging Het
Drc7 G A 8: 95,785,767 (GRCm39) V208I probably benign Het
Dst T A 1: 34,228,470 (GRCm39) L2021Q probably damaging Het
E2f4 C A 8: 106,027,968 (GRCm39) P299T probably damaging Het
Eef1b2 T C 1: 63,216,990 (GRCm39) L53P probably damaging Het
Enpp3 T C 10: 24,674,167 (GRCm39) T378A probably damaging Het
Eps15 A G 4: 109,223,670 (GRCm39) N302S probably benign Het
Esrrg G A 1: 187,943,112 (GRCm39) V362M probably benign Het
Gcc2 T A 10: 58,116,434 (GRCm39) N1014K probably benign Het
Gm3099 T A 14: 15,346,476 (GRCm39) M114K possibly damaging Het
Gnptab C T 10: 88,271,994 (GRCm39) T928I possibly damaging Het
Gpd2 A T 2: 57,158,083 (GRCm39) R31* probably null Het
Impdh1 T C 6: 29,207,165 (GRCm39) T60A possibly damaging Het
Kcnab3 A G 11: 69,221,256 (GRCm39) E191G probably benign Het
Kcnh5 A G 12: 75,011,943 (GRCm39) S659P probably damaging Het
Kl T C 5: 150,904,334 (GRCm39) I362T possibly damaging Het
Kpna4 A G 3: 68,993,117 (GRCm39) V414A probably damaging Het
Magi1 G A 6: 93,663,605 (GRCm39) P1111S possibly damaging Het
Myo18a A G 11: 77,755,558 (GRCm39) D1965G probably benign Het
Nadsyn1 G A 7: 143,351,615 (GRCm39) P673S probably damaging Het
Naip2 A G 13: 100,297,445 (GRCm39) S864P probably damaging Het
Or10ak16 A G 4: 118,750,658 (GRCm39) Y126C probably damaging Het
Or2d2b A T 7: 106,706,029 (GRCm39) I13N possibly damaging Het
Or2f1 G T 6: 42,721,486 (GRCm39) V172L probably benign Het
Paics T A 5: 77,109,357 (GRCm39) probably benign Het
Papss1 G T 3: 131,288,996 (GRCm39) probably benign Het
Pax3 A G 1: 78,173,300 (GRCm39) probably null Het
Pgbd5 T G 8: 125,110,941 (GRCm39) Q159P probably benign Het
Pkd1 A G 17: 24,800,266 (GRCm39) Y3009C probably damaging Het
Pla2g4d T C 2: 120,111,117 (GRCm39) T161A probably damaging Het
Podxl2 T A 6: 88,820,529 (GRCm39) Y521F probably damaging Het
Pramel34 A G 5: 93,784,154 (GRCm39) Y437H possibly damaging Het
Prmt2 C T 10: 76,058,327 (GRCm39) G161S probably damaging Het
Rft1 C T 14: 30,398,825 (GRCm39) T265I probably damaging Het
Rims2 T A 15: 39,321,192 (GRCm39) L736M probably damaging Het
Slf1 C T 13: 77,198,034 (GRCm39) A747T probably benign Het
Snx2 A G 18: 53,349,519 (GRCm39) K427E probably damaging Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tnxb A G 17: 34,937,488 (GRCm39) T3826A probably damaging Het
Tpp2 T C 1: 43,993,813 (GRCm39) Y233H probably damaging Het
Ubl4b C A 3: 107,462,147 (GRCm39) E38* probably null Het
Usp5 A T 6: 124,797,416 (GRCm39) I486N probably damaging Het
Vmn1r193 A C 13: 22,403,794 (GRCm39) L66R probably damaging Het
Vps13b T C 15: 35,792,218 (GRCm39) I2162T probably benign Het
Wipf2 T C 11: 98,781,650 (GRCm39) V63A probably benign Het
Zfp735 G T 11: 73,601,305 (GRCm39) C83F possibly damaging Het
Zfyve26 T C 12: 79,308,348 (GRCm39) probably null Het
Other mutations in Clip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Clip3 APN 7 29,998,287 (GRCm39) missense probably benign 0.11
IGL03004:Clip3 APN 7 29,991,789 (GRCm39) missense probably damaging 1.00
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 2013-12-09