Incidental Mutation 'R5463:Nipa1'
ID 433097
Institutional Source Beutler Lab
Gene Symbol Nipa1
Ensembl Gene ENSMUSG00000047037
Gene Name non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)
Synonyms 1110027G09Rik, A830014A18Rik, Spg6
MMRRC Submission 043025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5463 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 55628232-55669348 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 55629205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 303 (Q303*)
Ref Sequence ENSEMBL: ENSMUSP00000053871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052204]
AlphaFold Q8BHK1
Predicted Effect probably null
Transcript: ENSMUST00000052204
AA Change: Q303*
SMART Domains Protein: ENSMUSP00000053871
Gene: ENSMUSG00000047037
AA Change: Q303*

Pfam:Mg_trans_NIPA 21 308 1.6e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205400
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A C 10: 115,406,104 (GRCm39) probably benign Het
Arhgap29 T A 3: 121,782,200 (GRCm39) S71T possibly damaging Het
BC048507 T C 13: 68,011,817 (GRCm39) Y65H probably damaging Het
C3 T C 17: 57,518,720 (GRCm39) E1221G probably benign Het
Calb1 G T 4: 15,885,656 (GRCm39) V76L probably benign Het
Crybg1 T A 10: 43,879,689 (GRCm39) K500* probably null Het
Csmd1 G A 8: 16,034,860 (GRCm39) T2437I probably benign Het
Cyp27b1 G A 10: 126,887,966 (GRCm39) V493I possibly damaging Het
Cyp3a44 T A 5: 145,740,554 (GRCm39) T29S probably benign Het
Dclk3 T C 9: 111,298,328 (GRCm39) V624A probably benign Het
Dnah6 T C 6: 73,069,140 (GRCm39) I2464V probably benign Het
Dock6 A T 9: 21,721,254 (GRCm39) probably null Het
Erap1 C T 13: 74,794,533 (GRCm39) T64I probably damaging Het
Erbb3 A T 10: 128,405,948 (GRCm39) Y1156* probably null Het
Fam168a G A 7: 100,484,602 (GRCm39) A231T probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxo30 T C 10: 11,166,813 (GRCm39) Y512H probably damaging Het
Gcnt2 A T 13: 41,071,650 (GRCm39) I98F possibly damaging Het
Got1 G A 19: 43,493,036 (GRCm39) T295I probably benign Het
Herc2 A G 7: 55,844,010 (GRCm39) E3538G probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Letmd1 C T 15: 100,367,009 (GRCm39) A2V probably damaging Het
Lynx1 G T 15: 74,623,462 (GRCm39) Y28* probably null Het
Mast1 T C 8: 85,652,136 (GRCm39) E304G probably damaging Het
Nomo1 G A 7: 45,712,426 (GRCm39) R657H possibly damaging Het
Or51b4 C T 7: 103,530,541 (GRCm39) R303H probably benign Het
Pcdha7 T A 18: 37,108,628 (GRCm39) L551Q probably damaging Het
Pik3r4 T C 9: 105,525,930 (GRCm39) Y267H probably damaging Het
Pnliprp1 A G 19: 58,723,168 (GRCm39) D223G probably damaging Het
Prph G A 15: 98,953,281 (GRCm39) G65D probably benign Het
Pskh1 T C 8: 106,639,464 (GRCm39) L48P probably benign Het
Ptdss1 C A 13: 67,093,365 (GRCm39) N68K probably damaging Het
Rexo5 G A 7: 119,433,526 (GRCm39) G495R probably damaging Het
Ryr1 C A 7: 28,723,448 (GRCm39) A4204S possibly damaging Het
Serpinb9 G A 13: 33,199,659 (GRCm39) S318N probably damaging Het
Slc22a8 G A 19: 8,586,638 (GRCm39) R383H probably benign Het
Trim26 A G 17: 37,162,016 (GRCm39) H145R probably damaging Het
Trps1 A T 15: 50,695,286 (GRCm39) Y286* probably null Het
Vmn1r181 A G 7: 23,683,787 (GRCm39) N84S probably benign Het
Wdfy4 G T 14: 32,873,689 (GRCm39) Q207K probably benign Het
Whrn G A 4: 63,351,053 (GRCm39) T427I probably benign Het
Other mutations in Nipa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Nipa1 APN 7 55,629,409 (GRCm39) missense probably benign 0.20
impressionless UTSW 7 55,629,354 (GRCm39) missense probably benign 0.04
untouched UTSW 7 55,629,571 (GRCm39) missense probably damaging 1.00
R2116:Nipa1 UTSW 7 55,635,273 (GRCm39) missense possibly damaging 0.69
R2141:Nipa1 UTSW 7 55,647,259 (GRCm39) splice site probably null
R2142:Nipa1 UTSW 7 55,647,259 (GRCm39) splice site probably null
R4823:Nipa1 UTSW 7 55,629,436 (GRCm39) missense possibly damaging 0.71
R5424:Nipa1 UTSW 7 55,629,223 (GRCm39) missense possibly damaging 0.90
R6459:Nipa1 UTSW 7 55,629,354 (GRCm39) missense probably benign 0.04
R6468:Nipa1 UTSW 7 55,669,252 (GRCm39) missense probably benign 0.39
R6615:Nipa1 UTSW 7 55,629,571 (GRCm39) missense probably damaging 1.00
R7662:Nipa1 UTSW 7 55,629,372 (GRCm39) missense probably damaging 0.98
R7921:Nipa1 UTSW 7 55,629,558 (GRCm39) missense probably damaging 1.00
R7957:Nipa1 UTSW 7 55,629,547 (GRCm39) missense probably damaging 1.00
R8445:Nipa1 UTSW 7 55,629,466 (GRCm39) missense probably benign 0.03
X0064:Nipa1 UTSW 7 55,629,507 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06