Mutagenetix > Incidental Mutation

Incidental Mutation 'R1187:Nsrp1'

102281

Institutional Source

Beutler Lab

Gene Symbol

Nsrp1

Ensembl Gene

ENSMUSG00000037958

Gene Name

nuclear speckle regulatory protein 1

Synonyms

Ccdc55, NSpr70

MMRRC Submission

039259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1187 (G1)

Quality Score

120

Status

Not validated

Chromosome

Chromosomal Location

76935118-76969261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76936853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 448 (P448S)

Ref Sequence

ENSEMBL: ENSMUSP00000099552 (fasta)

Gene Model

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

AlphaFold

Q5NCR9

Predicted Effect

probably benign
Transcript: ENSMUST00000102494
AA Change: P448S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: P448S

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: 98.9%
3x: 97.9%
10x: 95.1%
20x: 89.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,478,981 (GRCm39)	M4276I	probably benign	Het
Apol7b	A	T	15: 77,307,603 (GRCm39)	F297L	possibly damaging	Het
Capsl	C	T	15: 9,457,807 (GRCm39)	R9W	probably damaging	Het
Catsperb	T	C	12: 101,591,991 (GRCm39)	V1107A	probably benign	Het
Cip2a	T	A	16: 48,820,656 (GRCm39)	N132K	probably damaging	Het
Clca3a1	T	C	3: 144,715,504 (GRCm39)	I544M	probably benign	Het
Cma2	T	C	14: 56,210,280 (GRCm39)	V55A	probably benign	Het
Col10a1	A	T	10: 34,270,834 (GRCm39)	I269F	probably benign	Het
Col26a1	G	A	5: 136,773,020 (GRCm39)	H385Y	probably damaging	Het
Ctdp1	A	G	18: 80,492,702 (GRCm39)	Y598H	probably damaging	Het
Dnajc1	A	G	2: 18,289,520 (GRCm39)	S296P	probably benign	Het
Dvl2	A	T	11: 69,896,962 (GRCm39)	T250S	probably benign	Het
Etv1	A	G	12: 38,915,563 (GRCm39)	Y410C	probably damaging	Het
Krcc1	A	T	6: 71,261,612 (GRCm39)	K215*	probably null	Het
Lrr1	A	T	12: 69,221,796 (GRCm39)	T313S	probably benign	Het
Lrrc7	T	A	3: 157,866,039 (GRCm39)	E1234V	probably damaging	Het
Mepe	G	A	5: 104,486,114 (GRCm39)	R418H	probably damaging	Het
Myrfl	G	A	10: 116,667,447 (GRCm39)	T331I	probably damaging	Het
Nbeal1	T	C	1: 60,233,687 (GRCm39)	W26R	probably damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Olfml2a	A	G	2: 38,849,825 (GRCm39)	N514D	probably damaging	Het
Or2l5	T	C	16: 19,333,796 (GRCm39)	T197A	probably benign	Het
Or2y17	T	G	11: 49,231,417 (GRCm39)	D19E	probably damaging	Het
Pcdhb1	C	T	18: 37,398,597 (GRCm39)	R183C	probably damaging	Het
Phf14	T	G	6: 11,941,495 (GRCm39)	C41G	probably damaging	Het
Pkhd1l1	T	C	15: 44,361,447 (GRCm39)	V499A	possibly damaging	Het
Plcb4	A	G	2: 135,810,314 (GRCm39)	I638V	probably benign	Het
Ppp4c	T	A	7: 126,385,372 (GRCm39)	I296F	probably benign	Het
Prkdc	T	C	16: 15,577,610 (GRCm39)	V2388A	probably damaging	Het
Rgl1	T	C	1: 152,420,184 (GRCm39)	D353G	probably benign	Het
Rnf19b	T	G	4: 128,969,360 (GRCm39)		probably null	Het
Ryr3	C	T	2: 112,788,521 (GRCm39)	D190N	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	G	A	5: 14,282,098 (GRCm39)	M411I	probably damaging	Het
Sgsh	A	T	11: 119,237,404 (GRCm39)	Y403*	probably null	Het
Sh2d7	T	A	9: 54,448,471 (GRCm39)	L164Q	probably benign	Het
Slfn8	A	T	11: 82,894,314 (GRCm39)	V775E	probably damaging	Het
Smgc	G	A	15: 91,744,798 (GRCm39)	G287S	probably damaging	Het
Soat1	T	A	1: 156,261,745 (GRCm39)	Y421F	probably damaging	Het
Sri	T	C	5: 8,109,416 (GRCm39)	Y52H	probably damaging	Het
Stat4	C	A	1: 52,115,836 (GRCm39)	Q259K	probably damaging	Het
Trpm5	A	G	7: 142,628,206 (GRCm39)	L1023P	probably damaging	Het
Ush1c	T	A	7: 45,858,338 (GRCm39)	N650I	probably benign	Het
Vmn2r8	G	T	5: 108,951,085 (GRCm39)	S120*	probably null	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp629	A	G	7: 127,209,401 (GRCm39)	S803P	probably benign	Het
Zfp629	T	C	7: 127,211,059 (GRCm39)	K250R	probably damaging	Het
Zfp758	T	A	17: 22,594,171 (GRCm39)	I187N	probably benign	Het
Zfp85	T	A	13: 67,897,835 (GRCm39)	K79I	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
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
R8119:Nsrp1	UTSW	11	76,939,177 (GRCm39)	critical splice donor site	probably null
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'- TTGCAAGGGACTCCAGATATGGGC -3'
(R):5'- AACGGAATGATCACGACCGATACAG -3'

Sequencing Primer
(F):5'- CAGATATGGGCAGTCCTTAGTCATC -3'
(R):5'- CGATACAGTGAGaaagaaaagaaaag -3'

Posted On

2014-01-15