Incidental Mutation 'IGL03083:Nab1'
ID417959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nab1
Ensembl Gene ENSMUSG00000002881
Gene NameNgfi-A binding protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03083
Quality Score
Status
Chromosome1
Chromosomal Location52457294-52500679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52490270 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 156 (D156G)
Ref Sequence ENSEMBL: ENSMUSP00000141191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069792] [ENSMUST00000170269] [ENSMUST00000186764]
Predicted Effect probably benign
Transcript: ENSMUST00000069792
AA Change: D156G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: D156G

DomainStartEndE-ValueType
Pfam:NCD1 5 83 1.6e-44 PFAM
low complexity region 113 122 N/A INTRINSIC
Pfam:NCD2 155 317 3.2e-68 PFAM
Pfam:Nab1 321 485 4.4e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168082
Predicted Effect probably benign
Transcript: ENSMUST00000170269
AA Change: D156G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: D156G

DomainStartEndE-ValueType
Pfam:NCD1 3 84 2.5e-50 PFAM
low complexity region 113 122 N/A INTRINSIC
Pfam:NCD2 163 319 8.4e-84 PFAM
Pfam:Nab1 333 456 9e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186764
AA Change: D156G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: D156G

DomainStartEndE-ValueType
Pfam:NCD1 3 84 2.1e-46 PFAM
low complexity region 113 122 N/A INTRINSIC
Pfam:NCD2 163 319 7.1e-80 PFAM
Pfam:Nab1 321 485 9.2e-101 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile with normal myelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,138,612 probably null Het
Acadsb A C 7: 131,441,193 probably benign Het
Ankk1 A G 9: 49,421,866 L106P probably benign Het
Ankrd24 G A 10: 81,638,649 A72T probably benign Het
Ankrd35 A T 3: 96,684,801 Q801L probably damaging Het
Avil A G 10: 127,016,324 I659M probably benign Het
Ccnc A G 4: 21,742,683 D170G possibly damaging Het
Cfap57 T C 4: 118,584,739 K711E probably damaging Het
Dctn1 T C 6: 83,197,484 probably benign Het
Dpp6 T C 5: 27,709,550 probably null Het
Efhb A T 17: 53,399,059 W817R probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fer1l4 A G 2: 156,039,366 probably benign Het
Fgf8 T C 19: 45,737,228 N137S probably damaging Het
Fndc3b T C 3: 27,467,427 D533G probably benign Het
Fshb A G 2: 107,057,467 V69A probably benign Het
Galnt7 A T 8: 57,526,189 H633Q probably damaging Het
Gm5458 A G 14: 19,602,383 probably null Het
Hfe2 T A 3: 96,528,606 D393E probably benign Het
Hpca A C 4: 129,118,526 F72L probably damaging Het
Inpp5d A T 1: 87,711,141 D552V probably damaging Het
Lepr C T 4: 101,814,679 Q967* probably null Het
Lgr5 A G 10: 115,453,032 V497A probably benign Het
Matr3 A G 18: 35,572,418 K132R probably damaging Het
Mib1 T G 18: 10,752,029 probably null Het
Mios T A 6: 8,215,156 N117K probably damaging Het
Nfxl1 C T 5: 72,540,662 probably benign Het
Nutm2 G A 13: 50,467,444 G15E probably damaging Het
Oca2 A G 7: 56,295,484 H280R probably benign Het
Olfr118 C A 17: 37,672,660 C212* probably null Het
Olfr464 T C 11: 87,914,088 I273V probably benign Het
P2ry1 A G 3: 61,004,315 T292A probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pidd1 A G 7: 141,440,456 probably null Het
Pitpnm2 T C 5: 124,133,382 E376G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2a T C 11: 69,745,046 probably null Het
Sbno2 A T 10: 80,057,534 M1311K probably damaging Het
Senp7 A G 16: 56,171,865 N701S probably benign Het
Sirpa T A 2: 129,629,928 I211N probably damaging Het
Slc9a4 A G 1: 40,629,402 E735G probably benign Het
Sorbs1 C T 19: 40,314,376 M790I probably damaging Het
Sult1e1 T A 5: 87,590,124 M33L probably benign Het
Tapbpl G A 6: 125,228,228 probably null Het
Top1 A G 2: 160,703,578 T289A probably damaging Het
Trim58 T A 11: 58,651,390 M392K probably benign Het
Uaca A G 9: 60,863,663 I371V probably benign Het
Vmn1r54 T C 6: 90,269,872 I256T possibly damaging Het
Wdr19 T C 5: 65,230,976 I668T probably benign Het
Other mutations in Nab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Nab1 APN 1 52490133 missense probably damaging 1.00
R0464:Nab1 UTSW 1 52490015 missense possibly damaging 0.95
R1162:Nab1 UTSW 1 52490027 missense probably damaging 1.00
R2395:Nab1 UTSW 1 52490582 missense probably damaging 1.00
R4354:Nab1 UTSW 1 52490696 missense probably damaging 1.00
R6369:Nab1 UTSW 1 52490222 missense probably damaging 1.00
R6379:Nab1 UTSW 1 52480997 missense probably damaging 1.00
R6913:Nab1 UTSW 1 52464836 missense possibly damaging 0.91
R7050:Nab1 UTSW 1 52490735 start codon destroyed probably null 1.00
R7233:Nab1 UTSW 1 52459219 makesense probably null
R7378:Nab1 UTSW 1 52480995 missense probably damaging 1.00
Posted On2016-08-02