Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01327:Nipa1'

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

Chromosomal Location

55977567-56019954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55979661 bp

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]

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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