Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Nasp'

190130

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

039740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116458249-116485138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116476133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 51 (Q51L)

Ref Sequence

ENSEMBL: ENSMUSP00000079946 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030456
AA Change: Q51L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693
AA Change: Q51L

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: Q51L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693
AA Change: Q51L

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 damaging
Transcript: ENSMUST00000081182
AA Change: Q51L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693
AA Change: Q51L

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: ENSMUST00000134038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154811

Meta Mutation Damage Score

0.1637

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 159,898,372 (GRCm39)		probably benign	Het
4931429P17Rik	A	G	13: 48,114,481 (GRCm39)		noncoding transcript	Het
Acox3	T	A	5: 35,758,908 (GRCm39)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,401,192 (GRCm39)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,062,215 (GRCm39)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 103,039,953 (GRCm39)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,164,758 (GRCm39)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,291,600 (GRCm39)	D62A	probably damaging	Het
Asb14	T	G	14: 26,623,079 (GRCm39)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,357,635 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 57,675,169 (GRCm39)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,147,098 (GRCm39)		probably benign	Het
Cc2d2a	T	A	5: 43,881,030 (GRCm39)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm39)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,303,168 (GRCm39)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,383 (GRCm39)	S717L	probably benign	Het
Cip2a	A	C	16: 48,838,767 (GRCm39)	Q861H	probably damaging	Het
Colgalt2	C	T	1: 152,276,114 (GRCm39)	R76W	probably damaging	Het
Copg1	A	T	6: 87,882,192 (GRCm39)	T596S	probably benign	Het
Cpb1	G	A	3: 20,329,655 (GRCm39)	R24W	probably damaging	Het
Csad	T	A	15: 102,088,407 (GRCm39)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,034,912 (GRCm39)		probably benign	Het
Ddb2	A	G	2: 91,064,554 (GRCm39)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,582,655 (GRCm39)	S317T	probably damaging	Het
Dlc1	A	G	8: 37,404,763 (GRCm39)	V342A	probably benign	Het
Dpp4	G	A	2: 62,189,679 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,206,727 (GRCm39)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,695,150 (GRCm39)	M989V	probably benign	Het
Entr1	T	A	2: 26,277,618 (GRCm39)	N69Y	probably damaging	Het
Gm5422	G	A	10: 31,124,458 (GRCm39)		noncoding transcript	Het
Gm9944	A	G	4: 144,179,833 (GRCm39)		probably benign	Het
Gtf2ird2	T	C	5: 134,245,829 (GRCm39)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,859,658 (GRCm39)	V217G	probably damaging	Het
Hunk	C	T	16: 90,183,295 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,285,799 (GRCm39)		probably null	Het
Ints11	T	G	4: 155,959,655 (GRCm39)	D87E	probably benign	Het
Intu	T	A	3: 40,595,073 (GRCm39)	S21T	probably benign	Het
Intu	C	A	3: 40,637,931 (GRCm39)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm39)	N45K	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,613,729 (GRCm39)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,802,141 (GRCm39)		probably null	Het
Magi2	T	G	5: 20,420,491 (GRCm39)	M309R	probably damaging	Het
Magohb	G	A	6: 131,261,600 (GRCm39)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,454,095 (GRCm39)	D203G	probably damaging	Het
Mvp	C	T	7: 126,600,744 (GRCm39)	V86I	probably benign	Het
Naip5	A	T	13: 100,379,363 (GRCm39)	F226I	probably damaging	Het
Nf1	T	A	11: 79,426,430 (GRCm39)	F1594I	probably damaging	Het
Nod2	A	C	8: 89,397,104 (GRCm39)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,640,316 (GRCm39)	S214N	probably damaging	Het
Or2l13b	T	C	16: 19,348,927 (GRCm39)	T248A	probably benign	Het
Or8c9	T	A	9: 38,241,197 (GRCm39)	F105I	probably damaging	Het
Parp14	A	C	16: 35,678,219 (GRCm39)	L583R	probably damaging	Het
Pclo	T	C	5: 14,763,238 (GRCm39)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,621,064 (GRCm39)		probably benign	Het
Plaat1	A	G	16: 29,046,978 (GRCm39)	K166E	probably damaging	Het
Polr1e	A	C	4: 45,027,469 (GRCm39)	D233A	probably damaging	Het
Prr29	T	C	11: 106,267,509 (GRCm39)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,129,028 (GRCm39)	V197E	probably damaging	Het
Rgma	A	T	7: 73,067,707 (GRCm39)	T415S	unknown	Het
Sacs	G	T	14: 61,447,211 (GRCm39)	V3086L	probably benign	Het
Sash1	A	G	10: 8,606,141 (GRCm39)	S750P	probably benign	Het
Scpppq1	T	A	5: 104,222,099 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,512 (GRCm39)	S372T	probably benign	Het
Sis	A	G	3: 72,816,420 (GRCm39)		probably benign	Het
Skint8	T	A	4: 111,796,769 (GRCm39)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,371,377 (GRCm39)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,490,793 (GRCm39)		probably null	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Sspo	T	A	6: 48,454,811 (GRCm39)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,216,221 (GRCm39)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,537,892 (GRCm39)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,283,089 (GRCm39)	S293N	probably benign	Het
Tmed3	G	A	9: 89,584,833 (GRCm39)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,086,843 (GRCm39)	T320K	possibly damaging	Het
Tnn	T	C	1: 159,972,714 (GRCm39)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,620,430 (GRCm39)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,741,049 (GRCm39)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,933,497 (GRCm39)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,581,504 (GRCm39)	V268E	probably damaging	Het
Xirp1	A	T	9: 119,847,841 (GRCm39)	H347Q	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
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
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'- CACTTTCAATCTTCCTTCTTTCTCCCCATAG -3'
(R):5'- TGTATATCTTTTGGTTTCCTTGGTGGTTCTTT -3'

Sequencing Primer
(F):5'- TTCTCCCCATAGAAAACCTGTTAC -3'
(R):5'- ctcaaactcagaaatccgcc -3'

Posted On

2014-05-14