Incidental Mutation 'IGL01327:Nipa1'
ID 74339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipa1
Ensembl Gene ENSMUSG00000047037
Gene Name non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)
Synonyms 1110027G09Rik, Spg6, A830014A18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01327
Quality Score
Status
Chromosome 7
Chromosomal Location 55977567-56019954 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55979661 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 235 (I235V)
Ref Sequence ENSEMBL: ENSMUSP00000053871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052204]
AlphaFold Q8BHK1
Predicted Effect probably benign
Transcript: ENSMUST00000052204
AA Change: I235V

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053871
Gene: ENSMUSG00000047037
AA Change: I235V

DomainStartEndE-ValueType
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
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 Y209C probably benign Het
Adcy7 T G 8: 88,318,790 probably benign Het
Aldh1a2 T A 9: 71,285,966 F486I possibly damaging Het
Alox12 T A 11: 70,254,549 H66L probably benign Het
Apoh T G 11: 108,397,361 Y102D probably damaging Het
Arl9 T C 5: 77,006,554 V43A possibly damaging Het
Atf6 A G 1: 170,788,606 probably null Het
Atp4a T A 7: 30,713,250 I127N possibly damaging Het
AY358078 T A 14: 51,805,709 probably benign Het
Baat T G 4: 49,490,338 K249Q probably damaging Het
Brat1 C T 5: 140,718,208 Q739* probably null Het
C8g A G 2: 25,499,077 F165L probably damaging Het
Cel T G 2: 28,557,955 D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 T803K unknown Het
Cpxm1 A G 2: 130,396,357 L95P probably benign Het
Ctsr A G 13: 61,162,675 probably benign Het
Cyth1 A G 11: 118,193,613 probably null Het
Dync1h1 A T 12: 110,616,692 probably benign Het
Ezh1 C T 11: 101,203,436 C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 W38R probably benign Het
Gm9611 T C 14: 42,294,665 T39A possibly damaging Het
Gnpat T A 8: 124,878,633 L287H probably damaging Het
Golm1 G T 13: 59,645,144 N182K possibly damaging Het
Hdac6 T C X: 7,931,774 M899V probably benign Het
Hsf3 T A X: 96,314,972 M272L probably benign Het
Kif19a C T 11: 114,781,799 probably benign Het
Lcn2 T G 2: 32,386,018 Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 S180R probably damaging Het
Ly6h A G 15: 75,565,099 probably benign Het
Macf1 T C 4: 123,509,912 N705D probably benign Het
Mst1r C T 9: 107,907,844 P234S probably benign Het
Msto1 T A 3: 88,910,632 probably null Het
Myo5a T A 9: 75,187,538 probably benign Het
Nlgn3 T C X: 101,318,622 V399A probably benign Het
Olfr1367 A G 13: 21,347,207 N93S probably benign Het
Olfr412 T A 11: 74,364,912 M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 S289P probably benign Het
Ppl T C 16: 5,087,644 N1596D probably benign Het
Psmb6 T A 11: 70,526,586 S114R possibly damaging Het
Pum1 C A 4: 130,730,543 Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 I75V probably benign Het
Slc24a3 T A 2: 145,602,558 I284N probably benign Het
Slc44a3 C T 3: 121,527,193 G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 D736A probably benign Het
Stra6 A G 9: 58,152,571 D605G probably benign Het
Tas2r126 T A 6: 42,434,750 H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 G14R probably benign Het
Ticrr C T 7: 79,694,461 T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 N518K probably benign Het
Trpm4 C A 7: 45,315,073 W533C probably damaging Het
Tsen54 T C 11: 115,821,712 Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 T219M probably damaging Het
Usp19 T C 9: 108,498,961 L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 Y43F probably benign Het
Vsig1 T A X: 140,937,680 V283E possibly damaging Het
Other mutations in Nipa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
impressionless UTSW 7 55979606 missense probably benign 0.04
untouched UTSW 7 55979823 missense probably damaging 1.00
R2116:Nipa1 UTSW 7 55985525 missense possibly damaging 0.69
R2141:Nipa1 UTSW 7 55997511 splice site probably null
R2142:Nipa1 UTSW 7 55997511 splice site probably null
R4823:Nipa1 UTSW 7 55979688 missense possibly damaging 0.71
R5424:Nipa1 UTSW 7 55979475 missense possibly damaging 0.90
R5463:Nipa1 UTSW 7 55979457 nonsense probably null
R6459:Nipa1 UTSW 7 55979606 missense probably benign 0.04
R6468:Nipa1 UTSW 7 56019504 missense probably benign 0.39
R6615:Nipa1 UTSW 7 55979823 missense probably damaging 1.00
R7662:Nipa1 UTSW 7 55979624 missense probably damaging 0.98
R7921:Nipa1 UTSW 7 55979810 missense probably damaging 1.00
R7957:Nipa1 UTSW 7 55979799 missense probably damaging 1.00
R8445:Nipa1 UTSW 7 55979718 missense probably benign 0.03
X0064:Nipa1 UTSW 7 55979759 missense probably damaging 1.00
Posted On 2013-10-07