Mutagenetix > Incidental Mutation

Incidental Mutation 'R0179:Nasp'

23027

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

038447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0179 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

116458249-116485138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116459354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 375 (V375M)

Ref Sequence

ENSEMBL: ENSMUSP00000079946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000051869] [ENSMUST00000081182]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030456
AA Change: V727M

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693
AA Change: V727M

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 damaging
Transcript: ENSMUST00000030457
AA Change: V402M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693
AA Change: V402M

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: ENSMUST00000051869

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035

Domain	Start	End	E-Value	Type
coiled coil region	97	161	N/A	INTRINSIC
coiled coil region	219	270	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081182
AA Change: V375M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693
AA Change: V375M

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: ENSMUST00000121907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155398

Meta Mutation Damage Score

0.0906

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,353 (GRCm39)	S948N	probably benign	Het
Adck1	A	T	12: 88,425,942 (GRCm39)	M457L	possibly damaging	Het
Adprm	A	T	11: 66,929,051 (GRCm39)	H313Q	possibly damaging	Het
Adss1	T	C	12: 112,598,703 (GRCm39)	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,134 (GRCm39)	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Ankrd50	A	G	3: 38,509,463 (GRCm39)	V968A	possibly damaging	Het
Brf2	T	C	8: 27,615,896 (GRCm39)	D163G	possibly damaging	Het
Cd226	C	A	18: 89,225,263 (GRCm39)	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,968,636 (GRCm39)	D23G	probably benign	Het
Cdc7	T	C	5: 107,112,905 (GRCm39)	S8P	probably benign	Het
Cdh8	C	T	8: 99,838,344 (GRCm39)	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516 (GRCm39)	F2534L	probably benign	Het
Ckb	T	C	12: 111,636,610 (GRCm39)	T255A	probably benign	Het
Cntnap5c	G	T	17: 58,076,620 (GRCm39)	W19L	probably benign	Het
Cntrl	A	G	2: 35,057,871 (GRCm39)	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cop1	A	G	1: 159,077,636 (GRCm39)	D157G	probably benign	Het
Csf2rb	A	C	15: 78,220,572 (GRCm39)	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 61,044,107 (GRCm39)	D52G	possibly damaging	Het
Dcaf7	A	T	11: 105,942,623 (GRCm39)	D190V	probably damaging	Het
Depdc5	T	A	5: 33,058,918 (GRCm39)		probably benign	Het
Dgkq	A	G	5: 108,806,066 (GRCm39)		probably benign	Het
Dhrs2	A	G	14: 55,477,933 (GRCm39)	T222A	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
E4f1	G	C	17: 24,670,411 (GRCm39)	T92S	possibly damaging	Het
Ep400	A	T	5: 110,816,515 (GRCm39)	S2669T	probably damaging	Het
Eprs1	T	G	1: 185,145,744 (GRCm39)	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,242,289 (GRCm39)	K99*	probably null	Het
Fzr1	A	T	10: 81,204,904 (GRCm39)		probably benign	Het
Gcc2	C	T	10: 58,112,472 (GRCm39)	R1001C	probably benign	Het
Gm4884	A	G	7: 40,693,252 (GRCm39)	D407G	probably benign	Het
Golga4	A	T	9: 118,389,808 (GRCm39)		probably null	Het
Gp2	T	G	7: 119,051,540 (GRCm39)	D225A	possibly damaging	Het
Gramd1a	T	A	7: 30,841,843 (GRCm39)	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,488,434 (GRCm39)	N121I	probably benign	Het
Htr6	A	T	4: 138,789,437 (GRCm39)	L276Q	probably damaging	Het
Itga9	A	T	9: 118,490,454 (GRCm39)	I262F	probably benign	Het
Lamc3	A	G	2: 31,805,096 (GRCm39)		probably benign	Het
Large1	T	C	8: 73,825,474 (GRCm39)	N200S	probably benign	Het
Lct	C	T	1: 128,255,422 (GRCm39)	V207I	probably benign	Het
Marf1	C	A	16: 13,969,040 (GRCm39)	L144F	probably damaging	Het
Morc2b	A	T	17: 33,355,956 (GRCm39)	Y605*	probably null	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Muc2	A	G	7: 141,302,708 (GRCm39)	Y17C	probably damaging	Het
Myf5	T	C	10: 107,321,779 (GRCm39)	D5G	possibly damaging	Het
Nr1h2	A	T	7: 44,201,689 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,155,468 (GRCm39)	Q447R	probably benign	Het
Ntn5	G	A	7: 45,335,737 (GRCm39)	G56D	probably damaging	Het
Oasl2	A	G	5: 115,048,973 (GRCm39)	R138G	probably benign	Het
Or4c29	A	T	2: 88,740,237 (GRCm39)	C167S	possibly damaging	Het
Or5b124	T	A	19: 13,610,504 (GRCm39)	F10I	probably damaging	Het
Or9k7	T	C	10: 130,046,207 (GRCm39)	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,455,612 (GRCm39)	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,424 (GRCm39)	E128G	probably damaging	Het
Prpf19	T	C	19: 10,875,172 (GRCm39)		probably benign	Het
Ptpn3	T	A	4: 57,270,118 (GRCm39)	T15S	probably benign	Het
R3hdm2	G	A	10: 127,330,975 (GRCm39)	C818Y	probably damaging	Het
Rad51d	A	G	11: 82,780,824 (GRCm39)	V39A	possibly damaging	Het
Rptor	A	T	11: 119,763,193 (GRCm39)	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,995,742 (GRCm39)	D41N	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Spata31g1	T	C	4: 42,972,214 (GRCm39)	S516P	probably benign	Het
Ssbp3	T	C	4: 106,903,585 (GRCm39)	S334P	probably damaging	Het
Suco	A	G	1: 161,703,874 (GRCm39)		probably benign	Het
Synj1	T	C	16: 90,761,519 (GRCm39)	K649R	possibly damaging	Het
Tdp2	C	T	13: 25,024,431 (GRCm39)	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,904,164 (GRCm39)		probably benign	Het
Trerf1	T	C	17: 47,627,588 (GRCm39)		noncoding transcript	Het
Trip10	T	C	17: 57,569,349 (GRCm39)		probably benign	Het
Tsen54	A	T	11: 115,712,856 (GRCm39)	S131C	probably damaging	Het
Unc5c	A	T	3: 141,523,828 (GRCm39)	R794*	probably null	Het
Vmn2r59	A	T	7: 41,696,432 (GRCm39)	Y103*	probably null	Het
Washc5	A	G	15: 59,224,379 (GRCm39)	V460A	probably benign	Het
Wdr87-ps	A	G	7: 29,235,365 (GRCm39)		noncoding transcript	Het
Whamm	A	G	7: 81,243,763 (GRCm39)	T358A	probably benign	Het
Xlr4b	C	T	X: 72,262,277 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 74,992,869 (GRCm39)		probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp27	T	A	7: 29,595,850 (GRCm39)	E38D	possibly damaging	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
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
R7276:Nasp	UTSW	4	116,471,546 (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'- CAGCCTGATTCTCAGCCTGAAAGAC -3'
(R):5'- GTTTAAGATGTTGCCACCAGAGGGG -3'

Sequencing Primer
(F):5'- AAATTGTTGACCAGGTACTCTTCC -3'
(R):5'- GGGCAACAGGATTTTTCTGC -3'

Posted On

2013-04-16