Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Nasp'

488804

Institutional Source

Beutler Lab

Gene Symbol

Nasp

Ensembl Gene

ENSMUSG00000028693

Gene Name

nuclear autoantigenic sperm protein (histone-binding)

Synonyms

D4Ertd767e, 5033430J04Rik, Epcs32, Nasp-T

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116601052-116627941 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116611077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 237 (T237I)

Ref Sequence

ENSEMBL: ENSMUSP00000030456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000081182]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030456
AA Change: T237I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693
AA Change: T237I

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	492	503	N/A	INTRINSIC
TPR	528	561	3.05e0	SMART
TPR	570	603	2.38e-2	SMART
low complexity region	620	640	N/A	INTRINSIC
low complexity region	703	715	N/A	INTRINSIC
low complexity region	742	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030457

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
TPR	203	236	3.05e0	SMART
TPR	245	278	2.38e-2	SMART
low complexity region	295	315	N/A	INTRINSIC
low complexity region	378	390	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081182

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	6.2e-2	SMART
low complexity region	84	99	N/A	INTRINSIC
low complexity region	106	126	N/A	INTRINSIC
low complexity region	140	151	N/A	INTRINSIC
TPR	176	209	1.4e-2	SMART
TPR	218	251	1.1e-4	SMART
low complexity region	268	288	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
low complexity region	390	407	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155398

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942 (GRCm38)		probably null	Het
Abca8b	A	G	11: 109,973,808 (GRCm38)	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033 (GRCm38)	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065 (GRCm38)	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661 (GRCm38)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904 (GRCm38)	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663 (GRCm38)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238 (GRCm38)	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999 (GRCm38)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261 (GRCm38)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858 (GRCm38)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm38)	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065 (GRCm38)	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573 (GRCm38)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978 (GRCm38)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816 (GRCm38)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766 (GRCm38)	E2414G	possibly damaging	Het
Dnaaf9	T	C	2: 130,778,473 (GRCm38)	I247V	probably benign	Het
Dnah1	C	A	14: 31,300,970 (GRCm38)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417 (GRCm38)	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904 (GRCm38)	G602*	probably null	Het
Ep400	A	T	5: 110,756,703 (GRCm38)	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429 (GRCm38)	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899 (GRCm38)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623 (GRCm38)	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768 (GRCm38)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842 (GRCm38)	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612 (GRCm38)	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839 (GRCm38)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379 (GRCm38)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765 (GRCm38)	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601 (GRCm38)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136 (GRCm38)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959 (GRCm38)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656 (GRCm38)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246 (GRCm38)	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096 (GRCm38)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607 (GRCm38)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026 (GRCm38)	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243 (GRCm38)	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381 (GRCm38)	S525N	unknown	Het
Nell2	G	T	15: 95,473,561 (GRCm38)	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717 (GRCm38)	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206 (GRCm38)	S203P	probably damaging	Het
Or1m1	T	G	9: 18,755,569 (GRCm38)	D22A	probably benign	Het
Or7g35	T	C	9: 19,584,888 (GRCm38)	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117 (GRCm38)		silent	Het
Pde10a	T	C	17: 8,929,117 (GRCm38)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791 (GRCm38)	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044 (GRCm38)	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992 (GRCm38)	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935 (GRCm38)	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302 (GRCm38)	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433 (GRCm38)		probably benign	Het
Ppm1j	G	A	3: 104,781,379 (GRCm38)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073 (GRCm38)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649 (GRCm38)	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467 (GRCm38)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637 (GRCm38)		probably null	Het
Rapgef1	A	G	2: 29,736,666 (GRCm38)	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853 (GRCm38)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484 (GRCm38)	S874R	probably damaging	Het
Septin4	G	A	11: 87,585,246 (GRCm38)		probably null	Het
Slc15a3	C	T	19: 10,857,251 (GRCm38)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781 (GRCm38)	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575 (GRCm38)	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294 (GRCm38)		probably benign	Het
Syne1	T	C	10: 5,052,750 (GRCm38)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563 (GRCm38)		probably null	Het
Tbc1d24	C	A	17: 24,208,229 (GRCm38)	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215 (GRCm38)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm38)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632 (GRCm38)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213 (GRCm38)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851 (GRCm38)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943 (GRCm38)	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574 (GRCm38)	K156R	probably damaging	Het

Other mutations in Nasp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nasp	APN	4	116,604,219 (GRCm38)	missense	probably damaging	1.00
IGL00780:Nasp	APN	4	116,603,999 (GRCm38)	nonsense	probably null
IGL00833:Nasp	APN	4	116,602,736 (GRCm38)	missense	probably damaging	1.00
IGL02232:Nasp	APN	4	116,604,800 (GRCm38)	missense	probably damaging	0.99
R0023:Nasp	UTSW	4	116,605,771 (GRCm38)	splice site	probably benign
R0023:Nasp	UTSW	4	116,605,771 (GRCm38)	splice site	probably benign
R0179:Nasp	UTSW	4	116,602,157 (GRCm38)	missense	probably damaging	1.00
R0385:Nasp	UTSW	4	116,610,695 (GRCm38)	missense	probably benign	0.02
R1707:Nasp	UTSW	4	116,618,936 (GRCm38)	missense	probably damaging	0.99
R1945:Nasp	UTSW	4	116,622,768 (GRCm38)	missense	possibly damaging	0.62
R2061:Nasp	UTSW	4	116,611,126 (GRCm38)	missense	probably benign	0.12
R4983:Nasp	UTSW	4	116,602,185 (GRCm38)	missense	probably damaging	0.99
R5064:Nasp	UTSW	4	116,611,970 (GRCm38)	critical splice donor site	probably null
R5687:Nasp	UTSW	4	116,605,805 (GRCm38)	intron	probably benign
R5713:Nasp	UTSW	4	116,614,361 (GRCm38)	missense	probably benign	0.34
R5839:Nasp	UTSW	4	116,602,091 (GRCm38)	critical splice donor site	probably null
R6159:Nasp	UTSW	4	116,603,889 (GRCm38)	splice site	probably null
R6234:Nasp	UTSW	4	116,622,782 (GRCm38)	missense	possibly damaging	0.51
R6286:Nasp	UTSW	4	116,604,788 (GRCm38)	missense	probably damaging	1.00
R6483:Nasp	UTSW	4	116,618,948 (GRCm38)	missense	probably damaging	1.00
R6899:Nasp	UTSW	4	116,604,333 (GRCm38)	missense	probably damaging	1.00
R7276:Nasp	UTSW	4	116,614,349 (GRCm38)	missense	probably damaging	1.00
R7412:Nasp	UTSW	4	116,610,588 (GRCm38)	missense	possibly damaging	0.85
R7763:Nasp	UTSW	4	116,612,033 (GRCm38)	missense	probably benign	0.03
R8166:Nasp	UTSW	4	116,610,915 (GRCm38)	missense	probably benign	0.38
R8692:Nasp	UTSW	4	116,612,083 (GRCm38)	critical splice acceptor site	probably null
R9093:Nasp	UTSW	4	116,610,820 (GRCm38)	missense	probably benign	0.06
R9175:Nasp	UTSW	4	116,614,379 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCGCTGACTTGACTTGAGG -3'
(R):5'- GTCTCTGACAAAGCCTGAAACTG -3'

Sequencing Primer
(F):5'- ACTTGACTTGAGGGTCTATTTCAGC -3'
(R):5'- TCTGACAAAGCCTGAAACTGATAAAG -3'

Posted On

2017-10-10