Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Nipal3'

41784

Institutional Source

Beutler Lab

Gene Symbol

Nipal3

Ensembl Gene

ENSMUSG00000028803

Gene Name

NIPA-like domain containing 3

Synonyms

Npal3, 9130020G22Rik

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135173454-135222283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135174683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 356 (V356A)

Ref Sequence

ENSEMBL: ENSMUSP00000139088 (fasta)

Gene Model

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

AlphaFold

Q8BGN5

Predicted Effect

probably benign
Transcript: ENSMUST00000102549

SMART Domains

Protein: ENSMUSP00000099608
Gene: ENSMUSG00000028803

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105856
AA Change: V356A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101482
Gene: ENSMUSG00000028803
AA Change: V356A

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 benign
Transcript: ENSMUST00000140982

SMART Domains

Protein: ENSMUSP00000118178
Gene: ENSMUSG00000028803

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183397

Predicted Effect

probably damaging
Transcript: ENSMUST00000183807
AA Change: V356A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139088
Gene: ENSMUSG00000028803
AA Change: V356A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194277

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccn4	A	G	15: 66,789,227 (GRCm39)	I238V	probably benign	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Il17ra	T	G	6: 120,458,767 (GRCm39)	D639E	probably benign	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Psg22	A	C	7: 18,453,589 (GRCm39)	S95R	probably damaging	Het
Ptk6	T	C	2: 180,837,732 (GRCm39)	T396A	probably benign	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,694,197 (GRCm39)	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,152,086 (GRCm39)	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	probably damaging	Het

Other mutations in Nipal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Nipal3	APN	4	135,195,904 (GRCm39)	missense	possibly damaging	0.90
IGL01338:Nipal3	APN	4	135,199,194 (GRCm39)	critical splice donor site	probably null
IGL02149:Nipal3	APN	4	135,194,163 (GRCm39)	missense	possibly damaging	0.67
IGL02160:Nipal3	APN	4	135,201,728 (GRCm39)	nonsense	probably null
IGL02560:Nipal3	APN	4	135,207,015 (GRCm39)	missense	probably damaging	1.00
IGL02826:Nipal3	APN	4	135,195,861 (GRCm39)	nonsense	probably null
IGL02868:Nipal3	APN	4	135,194,182 (GRCm39)	missense	probably damaging	1.00
R0189:Nipal3	UTSW	4	135,195,829 (GRCm39)	missense	possibly damaging	0.89
R0891:Nipal3	UTSW	4	135,195,898 (GRCm39)	missense	possibly damaging	0.91
R1633:Nipal3	UTSW	4	135,174,659 (GRCm39)	missense	probably benign	0.03
R1686:Nipal3	UTSW	4	135,174,599 (GRCm39)	missense	possibly damaging	0.49
R2921:Nipal3	UTSW	4	135,204,776 (GRCm39)	missense	probably damaging	1.00
R2923:Nipal3	UTSW	4	135,204,776 (GRCm39)	missense	probably damaging	1.00
R3732:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R3732:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R3733:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R3734:Nipal3	UTSW	4	135,191,157 (GRCm39)	missense	probably damaging	1.00
R5057:Nipal3	UTSW	4	135,194,167 (GRCm39)	missense	probably damaging	1.00
R5616:Nipal3	UTSW	4	135,179,715 (GRCm39)	missense	probably benign	0.01
R5758:Nipal3	UTSW	4	135,179,874 (GRCm39)	missense	probably benign	0.02
R5779:Nipal3	UTSW	4	135,179,650 (GRCm39)	intron	probably benign
R5885:Nipal3	UTSW	4	135,199,288 (GRCm39)	missense	probably damaging	0.97
R6572:Nipal3	UTSW	4	135,174,564 (GRCm39)	missense	probably benign	0.02
R6981:Nipal3	UTSW	4	135,206,858 (GRCm39)	missense	probably damaging	1.00
R7194:Nipal3	UTSW	4	135,201,732 (GRCm39)	missense	probably benign	0.26
R7537:Nipal3	UTSW	4	135,218,248 (GRCm39)	missense	probably damaging	1.00
R8018:Nipal3	UTSW	4	135,174,659 (GRCm39)	missense	possibly damaging	0.63
R8098:Nipal3	UTSW	4	135,179,709 (GRCm39)	missense	possibly damaging	0.87
R8503:Nipal3	UTSW	4	135,206,892 (GRCm39)	missense	probably damaging	1.00
R9651:Nipal3	UTSW	4	135,174,634 (GRCm39)	nonsense	probably null
X0066:Nipal3	UTSW	4	135,174,566 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAACTGCCTGCCATGCCCAA -3'
(R):5'- AGAAGTGCTCAGACCTTCCTCTCTC -3'

Sequencing Primer
(F):5'- ctaagcaaacccactaccaaac -3'
(R):5'- tcattacggatggttgggag -3'

Posted On

2013-05-23