Incidental Mutation 'IGL02668:Fsip1'
ID302800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsip1
Ensembl Gene ENSMUSG00000027344
Gene Namefibrous sheath-interacting protein 1
Synonyms1700012M13Rik, 4933432K11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02668
Quality Score
Status
Chromosome2
Chromosomal Location118130424-118256966 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 118251725 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 76 (A76E)
Ref Sequence ENSEMBL: ENSMUSP00000028821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028820] [ENSMUST00000028821] [ENSMUST00000231133]
Predicted Effect probably benign
Transcript: ENSMUST00000028820
AA Change: A76E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028820
Gene: ENSMUSG00000027344
AA Change: A76E

DomainStartEndE-ValueType
Pfam:FSIP1 4 203 1.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028821
AA Change: A76E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028821
Gene: ENSMUSG00000027344
AA Change: A76E

DomainStartEndE-ValueType
Pfam:FSIP1 4 405 5.9e-156 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189100
Predicted Effect probably benign
Transcript: ENSMUST00000231133
AA Change: A76E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Adprm G T 11: 67,040,247 D230E possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Ing3 A G 6: 21,950,059 D17G probably damaging Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Mpp6 C T 6: 50,194,529 T386I probably damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Phykpl G A 11: 51,593,687 probably null Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sdr9c7 T C 10: 127,902,398 F182L probably damaging Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K probably benign Het
Zmpste24 T A 4: 121,061,100 N442Y probably damaging Het
Other mutations in Fsip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Fsip1 APN 2 118249912 missense possibly damaging 0.63
IGL01676:Fsip1 APN 2 118240384 splice site probably benign
IGL02039:Fsip1 APN 2 118240414 missense probably damaging 1.00
IGL02337:Fsip1 APN 2 118251714 nonsense probably null
IGL03101:Fsip1 APN 2 118241663 missense probably damaging 1.00
IGL03155:Fsip1 APN 2 118251739 missense probably benign 0.06
R0045:Fsip1 UTSW 2 118248292 splice site probably null
R0045:Fsip1 UTSW 2 118248292 splice site probably null
R1225:Fsip1 UTSW 2 118248350 missense probably damaging 0.98
R1824:Fsip1 UTSW 2 118232908 missense probably damaging 0.98
R2048:Fsip1 UTSW 2 118241716 missense probably damaging 0.97
R2229:Fsip1 UTSW 2 118222444 missense probably benign 0.00
R3026:Fsip1 UTSW 2 118249903 missense probably benign 0.06
R3746:Fsip1 UTSW 2 118233050 missense probably damaging 0.98
R6275:Fsip1 UTSW 2 118205102 missense probably benign 0.06
R6395:Fsip1 UTSW 2 118236925 missense probably damaging 0.99
R6923:Fsip1 UTSW 2 118249913 missense probably benign 0.01
Posted On2015-04-16