Incidental Mutation 'IGL02633:Nab1'
ID301384
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 #IGL02633
Quality Score
Status
Chromosome1
Chromosomal Location52457294-52500679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 52490133 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 202 (V202M)
Ref Sequence ENSEMBL: ENSMUSP00000141191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069792] [ENSMUST00000170269] [ENSMUST00000186764]
Predicted Effect probably damaging
Transcript: ENSMUST00000069792
AA Change: V202M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: V202M

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 damaging
Transcript: ENSMUST00000170269
AA Change: V202M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: V202M

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 damaging
Transcript: ENSMUST00000186764
AA Change: V202M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: V202M

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Nab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03083:Nab1 APN 1 52490270 missense probably benign 0.02
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
R8197:Nab1 UTSW 1 52489968 nonsense probably null
RF003:Nab1 UTSW 1 52479282 missense probably damaging 1.00
Posted On2015-04-16