Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Nsrp1'

241227

Institutional Source

Beutler Lab

Gene Symbol

Nsrp1

Ensembl Gene

ENSMUSG00000037958

Gene Name

nuclear speckle regulatory protein 1

Synonyms

Ccdc55, NSpr70

MMRRC Submission

040219-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77044292-77078435 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 77045761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 536 (Y536*)

Ref Sequence

ENSEMBL: ENSMUSP00000099552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102494] [ENSMUST00000127758]

AlphaFold

Q5NCR9

Predicted Effect

probably null
Transcript: ENSMUST00000102494
AA Change: Y536*

SMART Domains

Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: Y536*

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
Pfam:DUF2040	57	176	1.1e-40	PFAM
low complexity region	359	375	N/A	INTRINSIC
low complexity region	395	413	N/A	INTRINSIC
low complexity region	432	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127758

SMART Domains

Protein: ENSMUSP00000118119
Gene: ENSMUSG00000037958

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
Pfam:DUF2040	51	78	1.9e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit die prior to E6.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7535	A	G	17: 17,911,674		probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724		probably null	Het
Nlrp4c	T	C	7: 6,073,114	V671A	probably benign	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681		probably null	Het
Phf6	A	T	X: 52,942,648	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685		probably null	Het
Pp2d1	C	A	17: 53,515,454	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706		probably null	Het
Tiam2	A	G	17: 3,415,114	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306		probably benign	Het
Zbtb22	T	G	17: 33,917,965	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111	L143P	possibly damaging	Het

Other mutations in Nsrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Nsrp1	APN	11	77046195	nonsense	probably null
IGL01478:Nsrp1	APN	11	77050652	missense	probably benign	0.00
R0413:Nsrp1	UTSW	11	77046171	missense	probably benign
R0959:Nsrp1	UTSW	11	77046459	nonsense	probably null
R1187:Nsrp1	UTSW	11	77046027	missense	probably benign	0.04
R1375:Nsrp1	UTSW	11	77050717	splice site	probably benign
R1513:Nsrp1	UTSW	11	77046619	missense	probably benign	0.01
R1969:Nsrp1	UTSW	11	77045786	missense	probably damaging	0.98
R2113:Nsrp1	UTSW	11	77046570	missense	probably benign	0.22
R2135:Nsrp1	UTSW	11	77055008	splice site	probably benign
R2218:Nsrp1	UTSW	11	77045761	nonsense	probably null
R4751:Nsrp1	UTSW	11	77076719	missense	possibly damaging	0.69
R4831:Nsrp1	UTSW	11	77050618	missense	probably benign	0.00
R4938:Nsrp1	UTSW	11	77045744	missense	probably damaging	1.00
R5319:Nsrp1	UTSW	11	77049467	missense	probably damaging	0.99
R6286:Nsrp1	UTSW	11	77049443	missense	probably damaging	0.99
R7221:Nsrp1	UTSW	11	77048423	missense	probably damaging	1.00
R7751:Nsrp1	UTSW	11	77049271	critical splice donor site	probably null
R8005:Nsrp1	UTSW	11	77045786	missense	probably damaging	0.98
R8119:Nsrp1	UTSW	11	77048351	critical splice donor site	probably null
R9042:Nsrp1	UTSW	11	77050651	missense	probably benign	0.42
R9233:Nsrp1	UTSW	11	77046210	missense	probably benign
R9248:Nsrp1	UTSW	11	77046210	missense	probably benign
R9487:Nsrp1	UTSW	11	77046288	nonsense	probably null
R9592:Nsrp1	UTSW	11	77049278	missense	probably damaging	1.00
R9710:Nsrp1	UTSW	11	77076677	missense	probably damaging	0.97
X0022:Nsrp1	UTSW	11	77046269	missense	probably benign	0.02
Z1176:Nsrp1	UTSW	11	77050695	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTGAAGCTCAAAGAACTG -3'
(R):5'- GTCTAGACCAAAGGACGACC -3'

Sequencing Primer
(F):5'- CTGAAGCTCAAAGAACTGACTTTTG -3'
(R):5'- GGGAAGCCCTCTCATTCTGAAAC -3'

Posted On

2014-10-15