Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Npat'

574857

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53537047-53574342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53569916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1008 (S1008P)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035850]

AlphaFold

Q8BMA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035850
AA Change: S1008P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: S1008P

Domain	Start	End	E-Value	Type
LisH	3	35	3.09e-3	SMART
low complexity region	585	592	N/A	INTRINSIC
low complexity region	697	712	N/A	INTRINSIC
Pfam:NPAT_C	754	1420	4.7e-299	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148336

Meta Mutation Damage Score

0.0609

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,882,309	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,245,924	E72D	probably benign	Het
Arid1a	G	T	4: 133,681,080	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,195	H96P	probably damaging	Het
Cast	A	G	13: 74,739,841	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,808,178	C320S	probably damaging	Het
Cgn	T	A	3: 94,763,055	K1031*	probably null	Het
Cnot10	T	C	9: 114,631,826	N92S	probably benign	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,083,193	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,689,834	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,852,172		probably null	Het
Dtnb	T	A	12: 3,644,272		probably null	Het
Entpd1	A	G	19: 40,738,865	N486D	possibly damaging	Het
Fes	G	A	7: 80,378,662	R736C	probably damaging	Het
Galr1	T	G	18: 82,393,865	Y292S	probably damaging	Het
Gda	T	A	19: 21,428,624	D80V	probably damaging	Het
Ghr	A	G	15: 3,347,572	C56R	probably benign	Het
Golgb1	A	G	16: 36,898,547	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,332,993	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,804,466	S43P	probably benign	Het
Gsdmd	A	G	15: 75,866,353	E295G	probably damaging	Het
Htatip2	A	G	7: 49,759,786	K96R	probably benign	Het
Insm1	T	A	2: 146,222,791	F176I	probably benign	Het
Itih1	T	C	14: 30,943,160	E36G	probably benign	Het
Jak1	A	G	4: 101,175,182	V409A	probably damaging	Het
Knl1	A	G	2: 119,070,592	I925V	possibly damaging	Het
Lcmt2	A	G	2: 121,138,704	S413P	probably benign	Het
Lmo7	T	C	14: 101,880,953	S205P	probably damaging	Het
Lrch3	C	A	16: 32,986,743	S462*	probably null	Het
Lrrtm2	T	C	18: 35,213,635	I205V	possibly damaging	Het
Mark3	T	G	12: 111,633,789	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,965,812	G39D	possibly damaging	Het
Msh4	A	G	3: 153,876,745	Y497H	probably benign	Het
Msl2	T	A	9: 101,102,117	D563E	probably benign	Het
Mta1	G	A	12: 113,131,468		probably null	Het
Nalcn	T	A	14: 123,291,860	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,695,793	L867P	probably benign	Het
Nkapl	T	C	13: 21,467,843	D200G	unknown	Het
Nos1	A	C	5: 117,867,518	E101A	probably damaging	Het
Ntng1	A	G	3: 109,853,082	I358T	probably benign	Het
Olfr1270	T	A	2: 90,149,844	H54L	probably benign	Het
Olfr1342	C	T	4: 118,689,662	M263I	probably damaging	Het
Olfr715b	A	G	7: 107,106,067	S265P	probably benign	Het
Olfr745	A	G	14: 50,642,395	E32G	probably benign	Het
Olfr794	A	G	10: 129,570,624		probably benign	Het
Pex1	A	G	5: 3,630,222	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,028,479	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,261,673	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,311,766	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,937,984	M109K	probably benign	Het
Plekhn1	T	C	4: 156,233,961	N68S	probably benign	Het
Pramel7	T	A	2: 87,490,845	D282V	possibly damaging	Het
Pxdn	T	C	12: 29,990,945	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,937,641	D89G	possibly damaging	Het
Rad17	G	A	13: 100,629,511	Q370*	probably null	Het
Robo4	T	C	9: 37,410,981	C751R	probably benign	Het
Sez6	A	G	11: 77,953,530	T60A	probably damaging	Het
Socs4	A	G	14: 47,289,839	H77R	probably benign	Het
Srrm3	T	A	5: 135,852,206	M120K	probably benign	Het
Steap4	A	T	5: 7,978,453	I344F	probably benign	Het
Stk36	T	A	1: 74,633,566	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108	Q667L	probably benign	Het
Tspan17	T	C	13: 54,789,653	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,661,359	Q65*	probably null	Het
Ush2a	A	T	1: 188,733,529	I2765F	probably benign	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdfy4	A	G	14: 33,078,307	V1954A		Het
Xrn2	T	A	2: 147,042,097		probably null	Het
Zfp687	C	T	3: 95,007,530	R1220H	probably damaging	Het

Other mutations in Npat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Npat	APN	9	53566800	missense	possibly damaging	0.82
IGL00503:Npat	APN	9	53572649	utr 3 prime	probably benign
IGL00694:Npat	APN	9	53563517	missense	probably benign	0.00
IGL00731:Npat	APN	9	53562086	missense	probably damaging	0.99
IGL00907:Npat	APN	9	53563290	missense	possibly damaging	0.64
IGL00949:Npat	APN	9	53563362	missense	probably benign	0.17
IGL01403:Npat	APN	9	53555129	missense	probably benign	0.02
IGL01626:Npat	APN	9	53556571	missense	possibly damaging	0.92
IGL01936:Npat	APN	9	53558226	splice site	probably benign
IGL02142:Npat	APN	9	53569907	missense	probably benign
IGL02215:Npat	APN	9	53559117	missense	probably benign	0.00
IGL02250:Npat	APN	9	53548951	nonsense	probably null
IGL02624:Npat	APN	9	53566810	missense	probably damaging	1.00
IGL02928:Npat	APN	9	53566838	splice site	probably benign
IGL02931:Npat	APN	9	53571041	nonsense	probably null
IGL03128:Npat	APN	9	53550033	splice site	probably benign
IGL03238:Npat	APN	9	53570426	missense	probably damaging	0.98
Flotsam	UTSW	9	53570570	nonsense	probably null
kindling	UTSW	9	53563449	missense	probably damaging	0.99
R0606:Npat	UTSW	9	53556481	critical splice donor site	probably null
R0688:Npat	UTSW	9	53570222	missense	probably benign	0.18
R0839:Npat	UTSW	9	53545180	missense	probably damaging	0.99
R0947:Npat	UTSW	9	53570324	missense	probably benign	0.08
R1070:Npat	UTSW	9	53572592	missense	probably damaging	1.00
R1480:Npat	UTSW	9	53563066	frame shift	probably null
R1599:Npat	UTSW	9	53562404	missense	possibly damaging	0.62
R1644:Npat	UTSW	9	53570172	missense	probably damaging	1.00
R1646:Npat	UTSW	9	53555134	missense	probably benign	0.32
R1699:Npat	UTSW	9	53562660	missense	probably benign
R1765:Npat	UTSW	9	53570222	missense	probably benign	0.00
R1793:Npat	UTSW	9	53552289	missense	probably damaging	1.00
R1866:Npat	UTSW	9	53563116	missense	probably damaging	1.00
R1898:Npat	UTSW	9	53563637	missense	probably damaging	1.00
R2018:Npat	UTSW	9	53562491	missense	probably benign	0.34
R2019:Npat	UTSW	9	53562491	missense	probably benign	0.34
R2213:Npat	UTSW	9	53552381	missense	probably benign	0.00
R2432:Npat	UTSW	9	53558135	missense	probably damaging	1.00
R3816:Npat	UTSW	9	53569916	missense	probably damaging	0.99
R4764:Npat	UTSW	9	53572620	missense	probably damaging	1.00
R4889:Npat	UTSW	9	53562207	missense	probably benign	0.00
R4895:Npat	UTSW	9	53570489	missense	probably damaging	1.00
R4923:Npat	UTSW	9	53571030	missense	probably damaging	1.00
R5377:Npat	UTSW	9	53550036	critical splice acceptor site	probably null
R5397:Npat	UTSW	9	53570474	missense	probably damaging	1.00
R5504:Npat	UTSW	9	53570264	missense	probably benign	0.01
R5509:Npat	UTSW	9	53570242	missense	probably benign	0.00
R5563:Npat	UTSW	9	53563127	missense	probably damaging	0.97
R5677:Npat	UTSW	9	53555100	missense	probably benign	0.00
R5868:Npat	UTSW	9	53570124	missense	probably damaging	0.96
R5927:Npat	UTSW	9	53562221	nonsense	probably null
R6009:Npat	UTSW	9	53563449	missense	probably damaging	0.99
R6247:Npat	UTSW	9	53545238	missense	probably damaging	1.00
R6434:Npat	UTSW	9	53563439	missense	possibly damaging	0.81
R6784:Npat	UTSW	9	53558158	missense	probably damaging	1.00
R6799:Npat	UTSW	9	53551630	missense	probably benign	0.21
R6878:Npat	UTSW	9	53556599	missense	probably benign
R7027:Npat	UTSW	9	53569916	missense	possibly damaging	0.90
R7383:Npat	UTSW	9	53562778	missense	probably benign
R7404:Npat	UTSW	9	53554933	splice site	probably null
R7444:Npat	UTSW	9	53548910	missense	probably damaging	0.97
R7755:Npat	UTSW	9	53559170	missense	possibly damaging	0.92
R7992:Npat	UTSW	9	53562867	missense	probably benign	0.00
R8108:Npat	UTSW	9	53571129	missense	probably benign	0.00
R8126:Npat	UTSW	9	53552334	missense	probably benign
R8213:Npat	UTSW	9	53570570	nonsense	probably null
R8354:Npat	UTSW	9	53566951	missense	possibly damaging	0.93
R8429:Npat	UTSW	9	53570609	nonsense	probably null
R8454:Npat	UTSW	9	53566951	missense	possibly damaging	0.93
R8865:Npat	UTSW	9	53570640	missense	probably benign	0.00
R8894:Npat	UTSW	9	53556651	missense	probably damaging	1.00
R9045:Npat	UTSW	9	53563476	missense	possibly damaging	0.83
R9375:Npat	UTSW	9	53563156	missense	possibly damaging	0.69
R9511:Npat	UTSW	9	53562106	missense	probably benign	0.02
R9723:Npat	UTSW	9	53562446	missense	probably benign	0.01
R9723:Npat	UTSW	9	53570561	missense	probably damaging	1.00
Z1177:Npat	UTSW	9	53566828	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ATTTCCTCTATAGAGTGTGTGAGTC -3'
(R):5'- AGGGAAATCGTGGTGTCTTCC -3'

Sequencing Primer
(F):5'- CTGACTCATTCTCTTTCAGA -3'
(R):5'- GAAGCTTCAGTTCTACCG -3'

Posted On

2019-10-07