Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03194:Npvf'

412732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npvf

Ensembl Gene

ENSMUSG00000029831

Gene Name

neuropeptide VF precursor

Synonyms

NPVF, Rfrp

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

50627652-50631419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 50627878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 180 (D180E)

Ref Sequence

ENSEMBL: ENSMUSP00000031853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031853]

AlphaFold

Q9ESQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031853
AA Change: D180E

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031853
Gene: ENSMUSG00000029831
AA Change: D180E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,460,647 (GRCm39)	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,369,522 (GRCm39)	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,177,946 (GRCm39)	G87D	probably benign	Het
Disp2	A	T	2: 118,618,110 (GRCm39)	R219W	probably damaging	Het
Dnaaf11	A	T	15: 66,314,048 (GRCm39)	D317E	probably benign	Het
Dstyk	A	T	1: 132,384,054 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,302,240 (GRCm39)	S451G	possibly damaging	Het
Fat2	T	A	11: 55,201,821 (GRCm39)	T418S	probably benign	Het
Fto	G	A	8: 92,136,415 (GRCm39)	D228N	probably damaging	Het
Gins4	A	T	8: 23,724,762 (GRCm39)		probably benign	Het
Gm10220	T	A	5: 26,326,231 (GRCm39)	R40W	probably damaging	Het
Gm11149	G	A	9: 49,457,646 (GRCm39)		probably benign	Het
Gm5431	T	G	11: 48,786,364 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,132,190 (GRCm39)	M59T	probably benign	Het
Lrp1	A	T	10: 127,404,554 (GRCm39)	V1989D	probably damaging	Het
Ltc4s	T	C	11: 50,127,398 (GRCm39)	*151W	probably null	Het
Map3k21	A	G	8: 126,650,801 (GRCm39)	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,896,444 (GRCm39)	L164P	probably damaging	Het
Mroh4	T	C	15: 74,483,388 (GRCm39)	T650A	probably damaging	Het
Mss51	T	C	14: 20,535,165 (GRCm39)	N202D	probably benign	Het
Mtus2	G	A	5: 148,043,913 (GRCm39)	A834T	probably damaging	Het
Nalf1	T	C	8: 9,282,975 (GRCm39)	D358G	probably damaging	Het
Ncoa6	A	G	2: 155,257,788 (GRCm39)	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nup188	A	T	2: 30,194,346 (GRCm39)	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,897,018 (GRCm39)	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,381,531 (GRCm39)	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Rara	T	C	11: 98,862,490 (GRCm39)	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,782,017 (GRCm39)	E567G	probably damaging	Het
Tnxb	C	T	17: 34,914,921 (GRCm39)	Q1970*	probably null	Het
Usp11	T	C	X: 20,578,656 (GRCm39)	I162T	probably benign	Het
Utrn	A	G	10: 12,282,173 (GRCm39)		probably benign	Het
Zfhx3	A	G	8: 109,521,359 (GRCm39)	E827G	probably damaging	Het

Other mutations in Npvf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Npvf	APN	6	50,627,865 (GRCm39)	missense	probably damaging	0.99
IGL02850:Npvf	APN	6	50,629,670 (GRCm39)	missense	probably benign	0.01
IGL02851:Npvf	APN	6	50,629,670 (GRCm39)	missense	probably benign	0.01
R1878:Npvf	UTSW	6	50,631,303 (GRCm39)	missense	probably benign
R8073:Npvf	UTSW	6	50,631,349 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02