Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Nipsnap1'

482591

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap1

Ensembl Gene

ENSMUSG00000034285

Gene Name

nipsnap homolog 1

Synonyms

MMRRC Submission

044234-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R6073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4823951-4844200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4838895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 107 (F107S)

Ref Sequence

ENSEMBL: ENSMUSP00000122885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038570] [ENSMUST00000136552] [ENSMUST00000139737]

AlphaFold

O55125

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038570
AA Change: F128S

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: F128S

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	185	282	2.7e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135405

Predicted Effect

probably benign
Transcript: ENSMUST00000136552

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139737
AA Change: F107S

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183479

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele treated with nocistatin fail to exhibit suppression of neuropeptide nociceptin/orphanin FQ-induced tactile allodynia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	A	T	18: 62,312,537 (GRCm39)	M96K	probably benign	Het
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Gm43302	A	G	5: 105,438,825 (GRCm39)	V21A	probably damaging	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Ihh	T	C	1: 74,990,438 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Pabpc1	A	G	15: 36,600,895 (GRCm39)	I305T	probably damaging	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Polr2g	A	T	19: 8,774,673 (GRCm39)	V70E	probably damaging	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	probably benign	Het

Other mutations in Nipsnap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Nipsnap1	APN	11	4,839,098 (GRCm39)	missense	possibly damaging	0.77
IGL01552:Nipsnap1	APN	11	4,839,124 (GRCm39)	missense	probably damaging	1.00
IGL01744:Nipsnap1	APN	11	4,839,912 (GRCm39)	missense	probably damaging	1.00
IGL01938:Nipsnap1	APN	11	4,843,134 (GRCm39)	missense	probably benign	0.00
IGL03328:Nipsnap1	APN	11	4,834,096 (GRCm39)	missense	possibly damaging	0.89
R0355:Nipsnap1	UTSW	11	4,839,957 (GRCm39)	missense	probably damaging	1.00
R1126:Nipsnap1	UTSW	11	4,834,081 (GRCm39)	missense	probably benign	0.01
R1815:Nipsnap1	UTSW	11	4,839,101 (GRCm39)	missense	probably damaging	1.00
R2129:Nipsnap1	UTSW	11	4,838,932 (GRCm39)	missense	probably benign	0.04
R2205:Nipsnap1	UTSW	11	4,839,974 (GRCm39)	missense	possibly damaging	0.95
R4852:Nipsnap1	UTSW	11	4,841,468 (GRCm39)	nonsense	probably null
R5776:Nipsnap1	UTSW	11	4,838,919 (GRCm39)	missense	probably benign	0.00
R7122:Nipsnap1	UTSW	11	4,833,366 (GRCm39)	critical splice acceptor site	probably null
R7263:Nipsnap1	UTSW	11	4,832,960 (GRCm39)	unclassified	probably benign
R7538:Nipsnap1	UTSW	11	4,834,089 (GRCm39)	missense	probably damaging	1.00
R7947:Nipsnap1	UTSW	11	4,839,145 (GRCm39)	missense	possibly damaging	0.64
R8166:Nipsnap1	UTSW	11	4,834,057 (GRCm39)	missense	probably benign	0.00
R9164:Nipsnap1	UTSW	11	4,839,969 (GRCm39)	missense	probably benign	0.03
R9312:Nipsnap1	UTSW	11	4,839,902 (GRCm39)	missense	possibly damaging	0.55
X0011:Nipsnap1	UTSW	11	4,824,069 (GRCm39)	missense	probably benign
Z1177:Nipsnap1	UTSW	11	4,839,956 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGGCCATCAAGCTGAGC -3'
(R):5'- AGAGCATTACAGGCACCATAGC -3'

Posted On

2017-07-14