Incidental Mutation 'IGL03334:Fnbp1l'
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ID416977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnbp1l
Ensembl Gene ENSMUSG00000039735
Gene Nameformin binding protein 1-like
SynonymsTOCA1, 2610318I01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03334
Quality Score
Status
Chromosome3
Chromosomal Location122538719-122619715 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122557949 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 315 (V315A)
Ref Sequence ENSEMBL: ENSMUSP00000124439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162409] [ENSMUST00000162947]
Predicted Effect probably benign
Transcript: ENSMUST00000162409
AA Change: V315A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: V315A

DomainStartEndE-ValueType
FCH 1 93 4.83e-18 SMART
coiled coil region 131 177 N/A INTRINSIC
PDB:2KE4|A 331 426 3e-30 PDB
low complexity region 468 477 N/A INTRINSIC
SH3 483 540 5.27e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162884
Predicted Effect probably benign
Transcript: ENSMUST00000162947
AA Change: V315A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: V315A

DomainStartEndE-ValueType
FCH 1 93 4.83e-18 SMART
coiled coil region 131 177 N/A INTRINSIC
low complexity region 333 347 N/A INTRINSIC
PDB:2KE4|A 389 484 4e-30 PDB
low complexity region 526 535 N/A INTRINSIC
SH3 541 598 5.27e-16 SMART
Predicted Effect unknown
Transcript: ENSMUST00000197259
AA Change: V160A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197342
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Fnbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Fnbp1l APN 3 122549249 missense possibly damaging 0.81
IGL01655:Fnbp1l APN 3 122568749 splice site probably null
IGL01750:Fnbp1l APN 3 122544677 nonsense probably null
IGL02040:Fnbp1l APN 3 122570953 splice site probably benign
IGL02187:Fnbp1l APN 3 122568800 nonsense probably null
R0347:Fnbp1l UTSW 3 122590175 missense probably damaging 1.00
R0382:Fnbp1l UTSW 3 122570953 splice site probably benign
R1401:Fnbp1l UTSW 3 122546306 missense probably damaging 0.97
R1746:Fnbp1l UTSW 3 122556491 missense probably benign
R1778:Fnbp1l UTSW 3 122590147 missense possibly damaging 0.89
R1861:Fnbp1l UTSW 3 122560932 missense probably damaging 1.00
R2202:Fnbp1l UTSW 3 122546962 missense probably benign 0.00
R3407:Fnbp1l UTSW 3 122552150 missense probably damaging 1.00
R3434:Fnbp1l UTSW 3 122546306 missense probably damaging 0.97
R3947:Fnbp1l UTSW 3 122544579 missense possibly damaging 0.78
R4667:Fnbp1l UTSW 3 122556567 missense probably benign 0.04
R4771:Fnbp1l UTSW 3 122558103 missense possibly damaging 0.54
R4858:Fnbp1l UTSW 3 122546315 missense probably benign 0.30
R5163:Fnbp1l UTSW 3 122544663 missense probably benign 0.00
R6151:Fnbp1l UTSW 3 122570930 missense possibly damaging 0.89
R6153:Fnbp1l UTSW 3 122559156 missense probably benign 0.01
R6452:Fnbp1l UTSW 3 122544549 missense probably damaging 1.00
R6458:Fnbp1l UTSW 3 122556440 missense probably damaging 0.96
R6788:Fnbp1l UTSW 3 122546307 nonsense probably null
R7397:Fnbp1l UTSW 3 122544637 missense probably benign 0.13
Posted On2016-08-02