Mutagenetix > Incidental Mutation

Incidental Mutation 'R7122:Nipsnap1'

552094

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap1

Ensembl Gene

ENSMUSG00000034285

Gene Name

nipsnap homolog 1

Synonyms

MMRRC Submission

045245-MU

Accession Numbers

Essential gene?

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

Stock #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4823951-4844200 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 4833366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049338 (fasta)

Gene Model

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

AlphaFold

O55125

Predicted Effect

probably null
Transcript: ENSMUST00000038570

SMART Domains

Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285

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

Predicted Effect

probably null
Transcript: ENSMUST00000038570

SMART Domains

Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136552

Predicted Effect

probably null
Transcript: ENSMUST00000139737

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,561,275 (GRCm39)	E126V	probably benign	Het
Alg3	A	T	16: 20,426,602 (GRCm39)	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,059,503 (GRCm39)	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Aup1	A	G	6: 83,032,123 (GRCm39)	T97A	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 179,892,583 (GRCm39)	L249P	probably damaging	Het
Celsr3	A	G	9: 108,705,766 (GRCm39)	K750E	possibly damaging	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Csmd2	G	A	4: 128,343,020 (GRCm39)	V1471M		Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
E4f1	G	A	17: 24,663,808 (GRCm39)	Q569*	probably null	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw24	A	T	9: 109,430,328 (GRCm39)	C439S	probably benign	Het
Ftdc2	C	A	16: 58,458,140 (GRCm39)	A54S	probably benign	Het
Gmip	C	T	8: 70,270,452 (GRCm39)	P721S	probably benign	Het
Grip1	A	G	10: 119,871,279 (GRCm39)	I669V	possibly damaging	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Herc1	G	T	9: 66,307,056 (GRCm39)	A959S	possibly damaging	Het
Hic1	A	G	11: 75,060,056 (GRCm39)	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189 (GRCm39)	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,450,317 (GRCm39)	V69G	unknown	Het
Jak3	T	A	8: 72,138,601 (GRCm39)	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,665,757 (GRCm39)	V530I	probably damaging	Het
Kif22	G	A	7: 126,632,150 (GRCm39)	R345C	probably benign	Het
Klhl7	G	A	5: 24,343,433 (GRCm39)	E250K	probably damaging	Het
Klk1b4	A	G	7: 43,860,531 (GRCm39)	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Lhx5	T	A	5: 120,574,410 (GRCm39)	M238K	probably benign	Het
Lin28b	A	T	10: 45,345,244 (GRCm39)	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,214,070 (GRCm39)	R18*	probably null	Het
Myct1	C	A	10: 5,554,492 (GRCm39)	H120N	probably damaging	Het
Nek1	A	T	8: 61,559,829 (GRCm39)	D984V	probably benign	Het
Nfu1	A	T	6: 86,986,863 (GRCm39)		probably benign	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,477,377 (GRCm39)	M520K	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	A	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or2a5	T	C	6: 42,874,024 (GRCm39)	V213A	probably damaging	Het
Or52n5	T	C	7: 104,588,405 (GRCm39)	L224P	probably damaging	Het
Otogl	C	T	10: 107,702,515 (GRCm39)	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Plpp4	G	T	7: 128,981,207 (GRCm39)	V153F	unknown	Het
Plxna2	C	A	1: 194,326,876 (GRCm39)	S270*	probably null	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Ptpn21	C	T	12: 98,655,171 (GRCm39)	V599I	probably damaging	Het
Rab26	C	A	17: 24,749,652 (GRCm39)	R131L	probably damaging	Het
Raph1	A	T	1: 60,565,136 (GRCm39)	V117D	probably benign	Het
Sacs	T	C	14: 61,447,845 (GRCm39)	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,095,796 (GRCm39)	A262S	probably benign	Het
Sgf29	A	G	7: 126,271,221 (GRCm39)	D193G	probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Sipa1l1	T	C	12: 82,469,236 (GRCm39)	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,749,224 (GRCm39)	L31P	probably damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639 (GRCm39)	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318 (GRCm39)	R225*	probably null	Het
Suz12	T	A	11: 79,884,419 (GRCm39)	F92I	probably damaging	Het
Tmem114	C	A	16: 8,242,610 (GRCm39)		probably benign	Het
Tmem68	A	G	4: 3,564,107 (GRCm39)	V159A	probably benign	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trim45	A	G	3: 100,839,353 (GRCm39)	T752A	unknown	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,017,761 (GRCm39)	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,210,484 (GRCm39)	S442T	probably damaging	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
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'- TCAAGTGCTGTTCTCCGATTTG -3'
(R):5'- AAAGCCTAAGGGTGGAGCTC -3'

Sequencing Primer
(F):5'- GACCCTTGGAAGTTGCTTAAACAG -3'
(R):5'- GAGCTCTCCAGTTTAGCAGC -3'

Posted On

2019-05-15