Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Nasp'

565566

Institutional Source

Beutler Lab

Gene Symbol

Nasp

Ensembl Gene

ENSMUSG00000028693

Gene Name

nuclear autoantigenic sperm protein (histone-binding)

Synonyms

Nasp-T, 5033430J04Rik, Epcs32, D4Ertd767e

MMRRC Submission

045359-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116458249-116485138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116471546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

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 damaging
Transcript: ENSMUST00000030456
AA Change: S94P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693
AA Change: S94P

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

possibly damaging
Transcript: ENSMUST00000030457
AA Change: S94P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693
AA Change: S94P

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

Coding Region Coverage

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

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,762,227 (GRCm39)	V26A	unknown	Het
4930546C10Rik	C	T	18: 69,083,093 (GRCm39)	W40*	probably null	Het
Abcc5	T	C	16: 20,195,258 (GRCm39)		probably null	Het
Adamts18	T	A	8: 114,501,896 (GRCm39)	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,774,239 (GRCm39)	N406I	probably benign	Het
Arhgap35	T	G	7: 16,298,493 (GRCm39)	T191P	probably damaging	Het
Atg3	G	A	16: 44,982,805 (GRCm39)	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,947,738 (GRCm39)		probably null	Het
BC048562	A	G	9: 108,322,435 (GRCm39)	N60D	probably damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
C7	A	T	15: 5,041,449 (GRCm39)	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,840,031 (GRCm39)	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,283,660 (GRCm39)	V562E	probably damaging	Het
Cemip2	A	G	19: 21,812,824 (GRCm39)	I1010V	probably benign	Het
Cript	T	A	17: 87,341,696 (GRCm39)	Y50*	probably null	Het
Dnah14	T	A	1: 181,513,372 (GRCm39)	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,984 (GRCm39)	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,728,717 (GRCm39)		probably null	Het
Ffar3	C	G	7: 30,555,273 (GRCm39)	V16L	possibly damaging	Het
Gcn1	C	T	5: 115,749,119 (GRCm39)	R1884W	probably damaging	Het
Gpatch1	T	A	7: 34,996,921 (GRCm39)	M426L	probably benign	Het
Hcn2	T	A	10: 79,564,934 (GRCm39)	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,012,488 (GRCm39)	T32A	probably benign	Het
Hykk	T	C	9: 54,853,502 (GRCm39)	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,926,376 (GRCm39)	P25A	possibly damaging	Het
Jph1	T	C	1: 17,162,266 (GRCm39)	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,931,450 (GRCm39)	D149E	probably damaging	Het
Knl1	A	T	2: 118,902,167 (GRCm39)	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,347,572 (GRCm39)	S3041L	unknown	Het
Mtrex	A	T	13: 113,050,973 (GRCm39)	Y201N	probably benign	Het
Mtus2	C	T	5: 148,013,368 (GRCm39)	R54C	probably benign	Het
Myo1d	A	T	11: 80,583,898 (GRCm39)	I38N	probably damaging	Het
Nfat5	C	A	8: 108,093,731 (GRCm39)	N657K	probably benign	Het
Ngfr	A	G	11: 95,465,170 (GRCm39)	L226P	probably benign	Het
Nos1	T	C	5: 118,048,303 (GRCm39)	S703P	probably damaging	Het
Nsun7	A	G	5: 66,434,484 (GRCm39)	D275G	probably benign	Het
Oas1d	A	G	5: 121,054,944 (GRCm39)	N172S	possibly damaging	Het
Or11h4	A	G	14: 50,974,187 (GRCm39)	V144A	possibly damaging	Het
Or2y17	T	A	11: 49,231,821 (GRCm39)	M154K	probably benign	Het
Or4c11b	T	A	2: 88,625,025 (GRCm39)	F100I	probably damaging	Het
Or52e8	T	A	7: 104,624,857 (GRCm39)	M116L	possibly damaging	Het
Papss1	A	G	3: 131,324,995 (GRCm39)	E484G	probably benign	Het
Pcdh15	A	G	10: 74,160,224 (GRCm39)	D447G	probably benign	Het
Phkg2	A	G	7: 127,181,558 (GRCm39)	E247G	possibly damaging	Het
Pramel30	A	G	4: 144,059,216 (GRCm39)	E309G	possibly damaging	Het
Prelid2	T	C	18: 42,045,487 (GRCm39)	N141S	possibly damaging	Het
Psg18	T	C	7: 18,079,909 (GRCm39)	M431V	probably damaging	Het
Psmd12	A	T	11: 107,394,471 (GRCm39)	R397*	probably null	Het
Ralgds	G	A	2: 28,435,884 (GRCm39)	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,319,416 (GRCm39)	C945Y	probably benign	Het
Rgs12	A	G	5: 35,183,715 (GRCm39)	D1026G	probably benign	Het
Scn7a	G	A	2: 66,587,506 (GRCm39)	P66S	probably damaging	Het
Supt16	T	C	14: 52,414,458 (GRCm39)	E448G	probably benign	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,666,310 (GRCm39)	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,153,838 (GRCm39)	W138*	probably null	Het
Tex101	T	C	7: 24,369,829 (GRCm39)	N45S	probably damaging	Het
Tmx1	C	A	12: 70,512,917 (GRCm39)	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,951,148 (GRCm39)	I1434L	probably damaging	Het
Trappc9	G	T	15: 72,924,119 (GRCm39)	H208N	probably damaging	Het
Trcg1	T	A	9: 57,149,862 (GRCm39)	L478Q	probably damaging	Het
Trim42	G	T	9: 97,251,625 (GRCm39)	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,509,934 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,831,881 (GRCm39)	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,321,645 (GRCm39)	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,340,359 (GRCm39)	D38G	probably damaging	Het
Vsig8	C	A	1: 172,390,850 (GRCm39)	C411*	probably null	Het
Vwce	A	T	19: 10,641,538 (GRCm39)	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782 (GRCm39)	S897G	probably damaging	Het
Zfp111	C	A	7: 23,898,978 (GRCm39)	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,280,624 (GRCm39)	H193N	probably damaging	Het
Zfp811	T	C	17: 33,017,755 (GRCm39)	E95G	probably benign	Het

Other mutations in Nasp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nasp	APN	4	116,461,416 (GRCm39)	missense	probably damaging	1.00
IGL00780:Nasp	APN	4	116,461,196 (GRCm39)	nonsense	probably null
IGL00833:Nasp	APN	4	116,459,933 (GRCm39)	missense	probably damaging	1.00
IGL02232:Nasp	APN	4	116,461,997 (GRCm39)	missense	probably damaging	0.99
R0023:Nasp	UTSW	4	116,462,968 (GRCm39)	splice site	probably benign
R0023:Nasp	UTSW	4	116,462,968 (GRCm39)	splice site	probably benign
R0179:Nasp	UTSW	4	116,459,354 (GRCm39)	missense	probably damaging	1.00
R0385:Nasp	UTSW	4	116,467,892 (GRCm39)	missense	probably benign	0.02
R1707:Nasp	UTSW	4	116,476,133 (GRCm39)	missense	probably damaging	0.99
R1945:Nasp	UTSW	4	116,479,965 (GRCm39)	missense	possibly damaging	0.62
R2061:Nasp	UTSW	4	116,468,323 (GRCm39)	missense	probably benign	0.12
R4983:Nasp	UTSW	4	116,459,382 (GRCm39)	missense	probably damaging	0.99
R5064:Nasp	UTSW	4	116,469,167 (GRCm39)	critical splice donor site	probably null
R5687:Nasp	UTSW	4	116,463,002 (GRCm39)	intron	probably benign
R5713:Nasp	UTSW	4	116,471,558 (GRCm39)	missense	probably benign	0.34
R5839:Nasp	UTSW	4	116,459,288 (GRCm39)	critical splice donor site	probably null
R6145:Nasp	UTSW	4	116,468,274 (GRCm39)	missense	probably benign	0.19
R6159:Nasp	UTSW	4	116,461,086 (GRCm39)	splice site	probably null
R6234:Nasp	UTSW	4	116,479,979 (GRCm39)	missense	possibly damaging	0.51
R6286:Nasp	UTSW	4	116,461,985 (GRCm39)	missense	probably damaging	1.00
R6483:Nasp	UTSW	4	116,476,145 (GRCm39)	missense	probably damaging	1.00
R6899:Nasp	UTSW	4	116,461,530 (GRCm39)	missense	probably damaging	1.00
R7412:Nasp	UTSW	4	116,467,785 (GRCm39)	missense	possibly damaging	0.85
R7763:Nasp	UTSW	4	116,469,230 (GRCm39)	missense	probably benign	0.03
R8166:Nasp	UTSW	4	116,468,112 (GRCm39)	missense	probably benign	0.38
R8692:Nasp	UTSW	4	116,469,280 (GRCm39)	critical splice acceptor site	probably null
R9093:Nasp	UTSW	4	116,468,017 (GRCm39)	missense	probably benign	0.06
R9175:Nasp	UTSW	4	116,471,576 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCTGTATCAAACTCTGAACAACC -3'
(R):5'- CTGGTCCACATGGTATTTATAAAGTGG -3'

Sequencing Primer
(F):5'- GTATCAAACTCTGAACAACCATTAAC -3'
(R):5'- CATGGTATTTATAAAGTGGCAGGAAG -3'

Posted On

2019-06-26