Incidental Mutation 'IGL02633:Nab1'
ID 301384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nab1
Ensembl Gene ENSMUSG00000002881
Gene Name Ngfi-A binding protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02633
Quality Score
Status
Chromosome 1
Chromosomal Location 52496453-52539838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52529292 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q61122
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
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Nab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03083:Nab1 APN 1 52,529,429 (GRCm39) missense probably benign 0.02
R0464:Nab1 UTSW 1 52,529,174 (GRCm39) missense possibly damaging 0.95
R1162:Nab1 UTSW 1 52,529,186 (GRCm39) missense probably damaging 1.00
R2395:Nab1 UTSW 1 52,529,741 (GRCm39) missense probably damaging 1.00
R4354:Nab1 UTSW 1 52,529,855 (GRCm39) missense probably damaging 1.00
R6369:Nab1 UTSW 1 52,529,381 (GRCm39) missense probably damaging 1.00
R6379:Nab1 UTSW 1 52,520,156 (GRCm39) missense probably damaging 1.00
R6913:Nab1 UTSW 1 52,503,995 (GRCm39) missense possibly damaging 0.91
R7050:Nab1 UTSW 1 52,529,894 (GRCm39) start codon destroyed probably null 1.00
R7233:Nab1 UTSW 1 52,498,378 (GRCm39) makesense probably null
R7378:Nab1 UTSW 1 52,520,154 (GRCm39) missense probably damaging 1.00
R7968:Nab1 UTSW 1 52,529,295 (GRCm39) missense probably damaging 1.00
R8197:Nab1 UTSW 1 52,529,127 (GRCm39) nonsense probably null
R8924:Nab1 UTSW 1 52,529,667 (GRCm39) missense possibly damaging 0.89
R9010:Nab1 UTSW 1 52,529,610 (GRCm39) missense possibly damaging 0.89
R9200:Nab1 UTSW 1 52,529,525 (GRCm39) missense possibly damaging 0.48
R9788:Nab1 UTSW 1 52,529,166 (GRCm39) missense possibly damaging 0.92
RF003:Nab1 UTSW 1 52,518,441 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16