Mutagenetix > Incidental Mutation

Incidental Mutation 'R8119:Nsrp1'

631406

Institutional Source

Beutler Lab

Gene Symbol

Nsrp1

Ensembl Gene

ENSMUSG00000037958

Gene Name

nuclear speckle regulatory protein 1

Synonyms

Ccdc55, NSpr70

MMRRC Submission

067548-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76935118-76969261 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 76939177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099552 (fasta)

Gene Model

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

AlphaFold

Q5NCR9

Predicted Effect

probably null
Transcript: ENSMUST00000102494

SMART Domains

Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958

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 null
Transcript: ENSMUST00000102494

SMART Domains

Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958

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 null
Transcript: ENSMUST00000102494

SMART Domains

Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958

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: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,087,930 (GRCm39)	I1066V	probably benign	Het
Abcd2	T	C	15: 91,033,197 (GRCm39)	T740A	probably benign	Het
Amigo1	T	C	3: 108,094,852 (GRCm39)	L117P	probably damaging	Het
Ankar	A	T	1: 72,686,160 (GRCm39)	S1347T	probably damaging	Het
Apol7e	T	C	15: 77,601,956 (GRCm39)	S185P	probably damaging	Het
Ash1l	G	A	3: 88,942,734 (GRCm39)	C2088Y	probably damaging	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Caln1	A	G	5: 130,851,825 (GRCm39)	S205G	probably damaging	Het
Cfap54	T	C	10: 92,704,672 (GRCm39)	I2803V	unknown	Het
Cfh	A	C	1: 140,047,753 (GRCm39)	F477V	possibly damaging	Het
Cldn23	A	G	8: 36,293,056 (GRCm39)	V144A	probably damaging	Het
Csmd1	A	G	8: 17,077,310 (GRCm39)	S116P	probably damaging	Het
Dgkd	A	T	1: 87,845,689 (GRCm39)	T299S	possibly damaging	Het
Fam20b	T	G	1: 156,518,072 (GRCm39)	T241P	probably damaging	Het
Fndc3b	A	T	3: 27,505,493 (GRCm39)	M925K	probably benign	Het
Ftdc1	C	A	16: 58,437,211 (GRCm39)	M32I	probably benign	Het
Ints3	C	T	3: 90,299,607 (GRCm39)	R987Q	probably damaging	Het
Kctd10	A	G	5: 114,505,316 (GRCm39)	V226A	probably damaging	Het
Lypd2	A	G	15: 74,604,881 (GRCm39)	V38A	probably benign	Het
Map3k1	T	C	13: 111,909,156 (GRCm39)	R265G	possibly damaging	Het
Mcc	C	T	18: 44,601,500 (GRCm39)	V610M	possibly damaging	Het
Mocs1	C	T	17: 49,756,547 (GRCm39)	R244C	probably damaging	Het
Nav2	A	G	7: 49,103,232 (GRCm39)	T677A	probably damaging	Het
Ngp	A	G	9: 110,251,421 (GRCm39)	N150D	probably benign	Het
Nipbl	C	T	15: 8,388,696 (GRCm39)	R308Q	probably benign	Het
Or2y16	A	T	11: 49,334,953 (GRCm39)	I92F	probably damaging	Het
Or4f47	T	A	2: 111,972,908 (GRCm39)	I206N	probably damaging	Het
Or52n20	A	T	7: 104,320,061 (GRCm39)	I51F	probably damaging	Het
Pbld2	A	T	10: 62,889,656 (GRCm39)	D146V	probably benign	Het
Prss22	T	A	17: 24,213,701 (GRCm39)	K197*	probably null	Het
Ptprd	G	T	4: 76,047,263 (GRCm39)	S87R	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc25a35	T	C	11: 68,862,798 (GRCm39)	L251S	probably benign	Het
Slx4	A	T	16: 3,803,136 (GRCm39)	L1226*	probably null	Het
Smarca4	T	C	9: 21,558,922 (GRCm39)	V651A	possibly damaging	Het
Smarcad1	T	C	6: 65,071,303 (GRCm39)	F583L	probably benign	Het
Taf2	T	C	15: 54,894,526 (GRCm39)	K932E	probably benign	Het
Trav8d-1	A	T	14: 53,016,425 (GRCm39)	T104S	probably benign	Het
Trmt9b	G	A	8: 36,965,576 (GRCm39)	W32*	probably null	Het
Trpm4	A	T	7: 44,976,552 (GRCm39)	V155D	probably damaging	Het
Ttc6	A	T	12: 57,752,429 (GRCm39)	Y1445F	possibly damaging	Het
Ttll5	C	A	12: 86,067,322 (GRCm39)	N1270K	probably damaging	Het
Usp40	G	T	1: 87,895,400 (GRCm39)		probably null	Het
Vmn2r74	T	C	7: 85,610,690 (GRCm39)	M1V	probably null	Het
Wwox	T	C	8: 115,433,108 (GRCm39)	V258A	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp770	G	A	2: 114,027,508 (GRCm39)	T187I	probably damaging	Het
Zranb2	A	G	3: 157,241,969 (GRCm39)		probably null	Het
Zscan4-ps3	A	G	7: 11,344,267 (GRCm39)	Q75R	probably damaging	Het

Other mutations in Nsrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Nsrp1	APN	11	76,937,021 (GRCm39)	nonsense	probably null
IGL01478:Nsrp1	APN	11	76,941,478 (GRCm39)	missense	probably benign	0.00
R0413:Nsrp1	UTSW	11	76,936,997 (GRCm39)	missense	probably benign
R0959:Nsrp1	UTSW	11	76,937,285 (GRCm39)	nonsense	probably null
R1187:Nsrp1	UTSW	11	76,936,853 (GRCm39)	missense	probably benign	0.04
R1375:Nsrp1	UTSW	11	76,941,543 (GRCm39)	splice site	probably benign
R1513:Nsrp1	UTSW	11	76,937,445 (GRCm39)	missense	probably benign	0.01
R1969:Nsrp1	UTSW	11	76,936,612 (GRCm39)	missense	probably damaging	0.98
R2113:Nsrp1	UTSW	11	76,937,396 (GRCm39)	missense	probably benign	0.22
R2135:Nsrp1	UTSW	11	76,945,834 (GRCm39)	splice site	probably benign
R2217:Nsrp1	UTSW	11	76,936,587 (GRCm39)	nonsense	probably null
R2218:Nsrp1	UTSW	11	76,936,587 (GRCm39)	nonsense	probably null
R4751:Nsrp1	UTSW	11	76,967,545 (GRCm39)	missense	possibly damaging	0.69
R4831:Nsrp1	UTSW	11	76,941,444 (GRCm39)	missense	probably benign	0.00
R4938:Nsrp1	UTSW	11	76,936,570 (GRCm39)	missense	probably damaging	1.00
R5319:Nsrp1	UTSW	11	76,940,293 (GRCm39)	missense	probably damaging	0.99
R6286:Nsrp1	UTSW	11	76,940,269 (GRCm39)	missense	probably damaging	0.99
R7221:Nsrp1	UTSW	11	76,939,249 (GRCm39)	missense	probably damaging	1.00
R7751:Nsrp1	UTSW	11	76,940,097 (GRCm39)	critical splice donor site	probably null
R8005:Nsrp1	UTSW	11	76,936,612 (GRCm39)	missense	probably damaging	0.98
R9042:Nsrp1	UTSW	11	76,941,477 (GRCm39)	missense	probably benign	0.42
R9233:Nsrp1	UTSW	11	76,937,036 (GRCm39)	missense	probably benign
R9248:Nsrp1	UTSW	11	76,937,036 (GRCm39)	missense	probably benign
R9487:Nsrp1	UTSW	11	76,937,114 (GRCm39)	nonsense	probably null
R9592:Nsrp1	UTSW	11	76,940,104 (GRCm39)	missense	probably damaging	1.00
R9710:Nsrp1	UTSW	11	76,967,503 (GRCm39)	missense	probably damaging	0.97
X0022:Nsrp1	UTSW	11	76,937,095 (GRCm39)	missense	probably benign	0.02
Z1176:Nsrp1	UTSW	11	76,941,521 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTTAAGGCCATACATAAGACC -3'
(R):5'- GCTCTGCATACATAAGATAAAGCTG -3'

Sequencing Primer
(F):5'- AACCATGTTGAACAAAATCTCAGG -3'
(R):5'- AAGCTGTATTGTGCTTCGCTGAATC -3'

Posted On

2020-06-30