Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00425:Nipal1'

5617

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipal1

Ensembl Gene

ENSMUSG00000067219

Gene Name

NIPA-like domain containing 1

Synonyms

Npal1, 3830408G10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00425

Quality Score

Status

Chromosome

Chromosomal Location

72805139-72828421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72816067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 30 (S30L)

Ref Sequence

ENSEMBL: ENSMUSP00000084462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]

AlphaFold

Q8BMW7

Predicted Effect

probably benign
Transcript: ENSMUST00000087212
AA Change: S30L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: S30L

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	66	360	6e-136	PFAM
Pfam:EamA	107	186	1.6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197772

Predicted Effect

probably benign
Transcript: ENSMUST00000197837

SMART Domains

Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	3	96	2.1e-45	PFAM
Pfam:EamA	17	96	2.8e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	C	T	14: 66,311,498 (GRCm39)		probably null	Het
Adgrb2	A	T	4: 129,912,865 (GRCm39)	H1373L	probably benign	Het
Adgrf4	A	G	17: 42,977,547 (GRCm39)	S599P	probably damaging	Het
Atp9b	G	A	18: 80,961,103 (GRCm39)		probably benign	Het
Baiap2	A	G	11: 119,872,836 (GRCm39)	T125A	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Cacna2d2	T	C	9: 107,404,550 (GRCm39)	S1114P	probably damaging	Het
Ccdc159	T	C	9: 21,840,765 (GRCm39)	S111P	possibly damaging	Het
Cd177	T	A	7: 24,459,176 (GRCm39)	T78S	possibly damaging	Het
Cdk5rap2	A	G	4: 70,321,709 (GRCm39)		probably null	Het
Cdkl3	C	A	11: 51,920,683 (GRCm39)	T462K	probably benign	Het
Chid1	A	C	7: 141,102,609 (GRCm39)	L208R	probably damaging	Het
Clca3b	A	G	3: 144,542,342 (GRCm39)	S487P	probably benign	Het
Col6a3	A	T	1: 90,709,748 (GRCm39)	L1816Q	unknown	Het
Dido1	A	G	2: 180,325,782 (GRCm39)	S469P	probably benign	Het
Dsg2	A	G	18: 20,734,826 (GRCm39)	N935D	probably benign	Het
Fbxw2	A	G	2: 34,702,961 (GRCm39)	I184T	probably benign	Het
Gbp9	T	C	5: 105,253,620 (GRCm39)	I32V	possibly damaging	Het
Hycc2	A	T	1: 58,579,412 (GRCm39)		probably benign	Het
Itgb8	G	A	12: 119,153,561 (GRCm39)	T318I	probably damaging	Het
Kcnb2	A	G	1: 15,781,236 (GRCm39)	S703G	probably benign	Het
Kif26b	A	T	1: 178,743,866 (GRCm39)	S1321C	probably damaging	Het
Klb	A	G	5: 65,529,717 (GRCm39)	N415S	possibly damaging	Het
Megf10	C	A	18: 57,373,700 (GRCm39)	A166D	probably damaging	Het
Mrm3	T	G	11: 76,135,319 (GRCm39)	S177A	probably damaging	Het
Nav3	A	G	10: 109,539,368 (GRCm39)	F2011S	probably benign	Het
Ogdhl	T	C	14: 32,068,447 (GRCm39)	Y895H	probably damaging	Het
Pif1	A	G	9: 65,500,559 (GRCm39)	N495D	probably damaging	Het
Prrc2c	A	T	1: 162,548,182 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,237,866 (GRCm39)	D724G	probably damaging	Het
Runx1t1	A	G	4: 13,835,663 (GRCm39)	D40G	probably benign	Het
Serhl	A	T	15: 82,989,838 (GRCm39)	D192V	possibly damaging	Het
Slc12a5	C	T	2: 164,825,201 (GRCm39)	A461V	probably damaging	Het
Tomm34	A	T	2: 163,900,582 (GRCm39)		probably benign	Het
Zfp54	A	G	17: 21,650,559 (GRCm39)	N45D	probably damaging	Het

Other mutations in Nipal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Nipal1	APN	5	72,820,882 (GRCm39)	missense	probably benign	0.02
IGL01962:Nipal1	APN	5	72,825,401 (GRCm39)	missense	possibly damaging	0.50
IGL02145:Nipal1	APN	5	72,824,274 (GRCm39)	missense	probably damaging	1.00
IGL02902:Nipal1	APN	5	72,825,405 (GRCm39)	missense	possibly damaging	0.49
IGL02934:Nipal1	APN	5	72,805,250 (GRCm39)	missense	probably damaging	1.00
IGL03024:Nipal1	APN	5	72,820,968 (GRCm39)	critical splice donor site	probably null
IGL03237:Nipal1	APN	5	72,824,150 (GRCm39)	missense	probably damaging	0.99
R0848:Nipal1	UTSW	5	72,825,183 (GRCm39)	missense	probably damaging	0.99
R1024:Nipal1	UTSW	5	72,825,334 (GRCm39)	frame shift	probably null
R2106:Nipal1	UTSW	5	72,820,902 (GRCm39)	missense	probably damaging	0.99
R2883:Nipal1	UTSW	5	72,825,073 (GRCm39)	missense	probably damaging	1.00
R2932:Nipal1	UTSW	5	72,824,978 (GRCm39)	missense	possibly damaging	0.46
R5364:Nipal1	UTSW	5	72,825,243 (GRCm39)	missense	probably damaging	1.00
R6175:Nipal1	UTSW	5	72,820,898 (GRCm39)	missense	probably damaging	1.00
R6523:Nipal1	UTSW	5	72,824,951 (GRCm39)	missense	probably damaging	0.97
R7185:Nipal1	UTSW	5	72,824,198 (GRCm39)	missense	probably damaging	0.98
R7436:Nipal1	UTSW	5	72,824,984 (GRCm39)	missense	probably benign	0.00
R9388:Nipal1	UTSW	5	72,825,557 (GRCm39)	makesense	probably null
RF011:Nipal1	UTSW	5	72,824,156 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20