Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02826:Nipal3'

361227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipal3

Ensembl Gene

ENSMUSG00000028803

Gene Name

NIPA-like domain containing 3

Synonyms

9130020G22Rik, Npal3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

135445420-135495038 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 135468550 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 247 (Y247*)

Ref Sequence

ENSEMBL: ENSMUSP00000139088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102549] [ENSMUST00000105856] [ENSMUST00000183807]

Predicted Effect

probably null
Transcript: ENSMUST00000102549
AA Change: Y247*

SMART Domains

Protein: ENSMUSP00000099608
Gene: ENSMUSG00000028803
AA Change: Y247*

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	33	333	5e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105856
AA Change: Y247*

SMART Domains

Protein: ENSMUSP00000101482
Gene: ENSMUSG00000028803
AA Change: Y247*

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Pfam:Mg_trans_NIPA	35	330	9.5e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000140982
AA Change: Y106*

SMART Domains

Protein: ENSMUSP00000118178
Gene: ENSMUSG00000028803
AA Change: Y106*

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	1	190	1.2e-47	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000183807
AA Change: Y247*

SMART Domains

Protein: ENSMUSP00000139088
Gene: ENSMUSG00000028803
AA Change: Y247*

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	33	333	3.8e-75	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	Het

Other mutations in Nipal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Nipal3	APN	4	135468593	missense	possibly damaging	0.90
IGL01338:Nipal3	APN	4	135471883	critical splice donor site	probably null
IGL02149:Nipal3	APN	4	135466852	missense	possibly damaging	0.67
IGL02160:Nipal3	APN	4	135474417	nonsense	probably null
IGL02560:Nipal3	APN	4	135479704	missense	probably damaging	1.00
IGL02868:Nipal3	APN	4	135466871	missense	probably damaging	1.00
R0189:Nipal3	UTSW	4	135468518	missense	possibly damaging	0.89
R0470:Nipal3	UTSW	4	135447372	missense	probably damaging	0.99
R0891:Nipal3	UTSW	4	135468587	missense	possibly damaging	0.91
R1633:Nipal3	UTSW	4	135447348	missense	probably benign	0.03
R1686:Nipal3	UTSW	4	135447288	missense	possibly damaging	0.49
R2921:Nipal3	UTSW	4	135477465	missense	probably damaging	1.00
R2923:Nipal3	UTSW	4	135477465	missense	probably damaging	1.00
R3732:Nipal3	UTSW	4	135463846	missense	probably damaging	1.00
R3732:Nipal3	UTSW	4	135463846	missense	probably damaging	1.00
R3733:Nipal3	UTSW	4	135463846	missense	probably damaging	1.00
R3734:Nipal3	UTSW	4	135463846	missense	probably damaging	1.00
R5057:Nipal3	UTSW	4	135466856	missense	probably damaging	1.00
R5616:Nipal3	UTSW	4	135452404	missense	probably benign	0.01
R5758:Nipal3	UTSW	4	135452563	missense	probably benign	0.02
R5779:Nipal3	UTSW	4	135452339	intron	probably benign
R5885:Nipal3	UTSW	4	135471977	missense	probably damaging	0.97
R6572:Nipal3	UTSW	4	135447253	missense	probably benign	0.02
R6981:Nipal3	UTSW	4	135479547	missense	probably damaging	1.00
R7194:Nipal3	UTSW	4	135474421	missense	probably benign	0.26
R7537:Nipal3	UTSW	4	135490937	missense	probably damaging	1.00
R8018:Nipal3	UTSW	4	135447348	missense	possibly damaging	0.63
R8098:Nipal3	UTSW	4	135452398	missense	possibly damaging	0.87
R8503:Nipal3	UTSW	4	135479581	missense	probably damaging	1.00
X0066:Nipal3	UTSW	4	135447255	missense	probably benign	0.02

Posted On

2015-12-18