Mutagenetix > Incidental Mutation

Incidental Mutation 'R7263:Nipsnap1'

580629

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap1

Ensembl Gene

ENSMUSG00000034285

Gene Name

nipsnap homolog 1

Synonyms

MMRRC Submission

045388-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4823951-4844200 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 4832960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122885 (fasta)

Gene Model

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

AlphaFold

O55125

Predicted Effect

probably benign
Transcript: ENSMUST00000038570

SMART Domains

Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285

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

Predicted Effect

unknown
Transcript: ENSMUST00000136552
AA Change: T53I

Predicted Effect

probably benign
Transcript: ENSMUST00000139737

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,847,843 (GRCm39)	H55N	probably damaging	Het
Acan	G	T	7: 78,742,066 (GRCm39)	V488L	probably damaging	Het
Adam12	T	C	7: 133,521,240 (GRCm39)	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,220,772 (GRCm39)	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,825,601 (GRCm39)	D1079E	probably benign	Het
Barx1	G	T	13: 48,818,555 (GRCm39)	G93C	probably damaging	Het
Carmil2	C	T	8: 106,419,677 (GRCm39)	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc159	T	C	9: 21,843,007 (GRCm39)	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,202,652 (GRCm39)	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,470,332 (GRCm39)	G15D	probably damaging	Het
Dach1	T	C	14: 98,406,295 (GRCm39)	S151G	probably benign	Het
Elf5	C	A	2: 103,269,645 (GRCm39)	N75K	probably benign	Het
Elp3	T	C	14: 65,802,782 (GRCm39)	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,337,043 (GRCm39)		probably null	Het
Epha6	A	G	16: 59,596,028 (GRCm39)	Y888H	probably damaging	Het
Fibcd1	T	C	2: 31,707,222 (GRCm39)	Y345C	probably damaging	Het
Gjd3	C	T	11: 102,690,963 (GRCm39)	E347K	possibly damaging	Het
Gse1	A	G	8: 121,300,910 (GRCm39)	D892G	unknown	Het
Gtpbp6	A	T	5: 110,251,915 (GRCm39)	I506N	probably benign	Het
Hivep1	T	A	13: 42,311,668 (GRCm39)	F1303I	possibly damaging	Het
Il21r	A	G	7: 125,232,077 (GRCm39)	T502A	probably benign	Het
Ints1	T	C	5: 139,749,834 (GRCm39)	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381 (GRCm39)	N351K	probably damaging	Het
Iqcm	A	G	8: 76,489,701 (GRCm39)	T390A	probably benign	Het
Iqcn	A	G	8: 71,163,425 (GRCm39)	N873D	possibly damaging	Het
Kcnh4	C	T	11: 100,632,643 (GRCm39)	G948D	probably benign	Het
Kcnh7	T	A	2: 62,566,314 (GRCm39)		probably null	Het
Lrrc72	A	G	12: 36,258,611 (GRCm39)	V82A	probably damaging	Het
Macf1	A	T	4: 123,271,943 (GRCm39)	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,109,196 (GRCm39)	L585V		Het
Nipal2	G	C	15: 34,578,904 (GRCm39)	Y298*	probably null	Het
Or12e1	T	A	2: 87,022,476 (GRCm39)	C148*	probably null	Het
Or4x12-ps1	T	C	2: 89,916,332 (GRCm39)	I158V	not run	Het
Or51g1	A	T	7: 102,633,524 (GRCm39)	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,819,873 (GRCm39)	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821 (GRCm39)	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,017,940 (GRCm39)	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,822,358 (GRCm39)	I236T	probably benign	Het
Pygm	G	A	19: 6,438,357 (GRCm39)	R278H	probably damaging	Het
Rb1	A	T	14: 73,520,363 (GRCm39)	C215*	probably null	Het
Rgs22	A	G	15: 36,015,789 (GRCm39)	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,284,126 (GRCm39)	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,667 (GRCm39)	Y130*	probably null	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Serpinb6e	A	T	13: 34,022,923 (GRCm39)	F153L	probably benign	Het
Slc22a1	A	T	17: 12,885,587 (GRCm39)	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,113,107 (GRCm39)	M377I	probably benign	Het
Slc36a4	A	G	9: 15,633,452 (GRCm39)		probably null	Het
Slc39a6	A	G	18: 24,734,260 (GRCm39)	V143A	probably benign	Het
Slf2	G	A	19: 44,926,863 (GRCm39)		probably null	Het
Sowaha	T	C	11: 53,370,485 (GRCm39)	K84E	probably benign	Het
Spef2	T	G	15: 9,653,098 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,399 (GRCm39)	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,870,539 (GRCm39)	I189T	possibly damaging	Het
Tescl	T	C	7: 24,033,247 (GRCm39)	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,854,150 (GRCm39)	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200 (GRCm39)	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,175,526 (GRCm39)	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,949,000 (GRCm39)	A446P	probably damaging	Het
Usp7	A	T	16: 8,514,588 (GRCm39)	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,535 (GRCm39)	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,225,077 (GRCm39)	K478E	probably damaging	Het
Zfp112	C	A	7: 23,824,952 (GRCm39)	L311I	probably benign	Het
Zfp180	G	T	7: 23,805,125 (GRCm39)	E515*	probably null	Het
Zfp518b	A	G	5: 38,829,671 (GRCm39)	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,662 (GRCm39)	H434Q	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
R6073:Nipsnap1	UTSW	11	4,838,895 (GRCm39)	missense	possibly damaging	0.86
R7122:Nipsnap1	UTSW	11	4,833,366 (GRCm39)	critical splice acceptor site	probably null
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'- GGCTGCTATGTTTTGCTTATTCAACAC -3'
(R):5'- CTTACTGTTTAAGCAACTTCCAAGG -3'

Sequencing Primer
(F):5'- TGCTTATTCAACACATGGGAAACAGC -3'
(R):5'- TTAAGCAACTTCCAAGGGTCATAAGG -3'

Posted On

2019-10-16