Mutagenetix > Incidental Mutation

Incidental Mutation 'R7957:Nipa1'

649890

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

046001-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7957 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

55628232-55669348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55629547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 189 (C189S)

Ref Sequence

ENSEMBL: ENSMUSP00000053871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052204]

AlphaFold

Q8BHK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000052204
AA Change: C189S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053871
Gene: ENSMUSG00000047037
AA Change: C189S

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	21	308	1.6e-86	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,439 (GRCm39)	M1T	probably null	Het
Abhd2	T	A	7: 78,975,194 (GRCm39)	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,298 (GRCm39)	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,040,131 (GRCm39)	T438A	probably benign	Het
Ccn3	G	T	15: 54,609,734 (GRCm39)	S78I	possibly damaging	Het
Cebpa	A	G	7: 34,819,867 (GRCm39)	I342V	possibly damaging	Het
Chd9	T	C	8: 91,778,326 (GRCm39)	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,661,221 (GRCm39)	P577T	probably benign	Het
Col17a1	T	C	19: 47,649,556 (GRCm39)	D755G	probably damaging	Het
Col5a3	A	G	9: 20,685,347 (GRCm39)	V1443A	unknown	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Fam193a	A	G	5: 34,619,430 (GRCm39)	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,399,267 (GRCm39)	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410 (GRCm39)	T149A	probably damaging	Het
Gm3667	T	C	14: 18,269,663 (GRCm39)	N156D	probably benign	Het
Hpcal1	T	A	12: 17,841,171 (GRCm39)	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,394,777 (GRCm39)	E342*	probably null	Het
Ints13	A	G	6: 146,452,264 (GRCm39)	S652P	probably damaging	Het
Kansl2	C	A	15: 98,422,499 (GRCm39)	E356D	probably benign	Het
Klhl6	T	C	16: 19,768,201 (GRCm39)	E448G	probably null	Het
Mmp14	A	G	14: 54,673,707 (GRCm39)	I124V	probably benign	Het
Morc2b	A	T	17: 33,354,747 (GRCm39)	D1008E	probably benign	Het
Muc16	A	C	9: 18,554,767 (GRCm39)	V3842G	unknown	Het
Myo9b	A	T	8: 71,807,405 (GRCm39)	I1614F	probably benign	Het
Ntn4	T	C	10: 93,480,335 (GRCm39)		probably benign	Het
Or12k5	A	G	2: 36,894,972 (GRCm39)	I218T	probably benign	Het
Or2t29	A	G	11: 58,433,624 (GRCm39)	L239P	probably damaging	Het
Or3a4	A	C	11: 73,944,982 (GRCm39)	L201R	probably damaging	Het
Or4x13	A	T	2: 90,231,395 (GRCm39)	Y130F	probably damaging	Het
Or8g17	T	G	9: 38,930,349 (GRCm39)	I163L	probably benign	Het
Pank1	T	A	19: 34,791,096 (GRCm39)	H528L	probably damaging	Het
Pappa2	A	T	1: 158,589,131 (GRCm39)	L1698*	probably null	Het
Park7	A	G	4: 150,988,341 (GRCm39)	S85P	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rapgef2	T	C	3: 79,122,276 (GRCm39)	E30G	probably benign	Het
Rhbdf1	A	G	11: 32,160,523 (GRCm39)	F676L	probably damaging	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scd4	G	T	19: 44,329,687 (GRCm39)	M219I	probably benign	Het
Slfn5	T	A	11: 82,847,613 (GRCm39)	I166N	probably benign	Het
Smim22	A	T	16: 4,826,089 (GRCm39)	D85V	probably damaging	Het
Socs2	T	C	10: 95,250,812 (GRCm39)	E7G	probably benign	Het
Thumpd2	T	C	17: 81,334,157 (GRCm39)	E477G	probably benign	Het
Tlr12	C	T	4: 128,510,483 (GRCm39)	G589D	probably benign	Het
Ttn	A	T	2: 76,595,199 (GRCm39)	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,599,690 (GRCm39)		probably null	Het
Ugt2a3	T	A	5: 87,475,050 (GRCm39)	D398V	probably damaging	Het
Vmn2r88	A	T	14: 51,650,589 (GRCm39)	M101L		Het
Vmn2r93	A	T	17: 18,545,954 (GRCm39)	R609*	probably null	Het
Zfp473	C	T	7: 44,381,916 (GRCm39)	E806K	probably damaging	Het
Zfp93	T	C	7: 23,974,999 (GRCm39)	L328P	probably damaging	Het

Other mutations in Nipa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5463:Nipa1	UTSW	7	55,629,205 (GRCm39)	nonsense	probably null
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
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
(F):5'- TAAACACAACGTAGTAGATGGCCC -3'
(R):5'- GGTTCAGCTCTGACCTCTTGATG -3'

Sequencing Primer
(F):5'- CGTAGTAGATGGCCCCAAATACAG -3'
(R):5'- AGCTCTGACCTCTTGATGGTGTTTG -3'

Posted On

2020-09-15