Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Npat'

78112

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

039018-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53537047-53574342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53545180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 17 (Q17L)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035850
AA Change: Q17L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: Q17L

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

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,126,878	V1083M	probably damaging	Het
Aco2	A	G	15: 81,907,535		probably null	Het
AI661453	A	T	17: 47,436,827	Q8L	probably null	Het
Ankrd42	T	C	7: 92,612,772	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,991,097	I464L	probably benign	Het
Cdc5l	A	C	17: 45,393,147	M717R	probably benign	Het
Col4a1	G	A	8: 11,221,015	P809S	probably damaging	Het
Dctn1	T	C	6: 83,190,477	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,935,111	S799P	probably benign	Het
Dna2	T	C	10: 62,969,782	C933R	probably damaging	Het
Dock6	T	C	9: 21,817,892	N1275S	probably benign	Het
Ect2l	A	G	10: 18,141,904	I659T	probably benign	Het
Ets1	T	A	9: 32,734,061	Y201*	probably null	Het
Gle1	T	A	2: 29,958,450	C679S	probably benign	Het
Gm10118	T	G	10: 63,926,864		probably benign	Het
Guk1	G	A	11: 59,185,095	R146C	probably damaging	Het
H2-Q7	A	G	17: 35,439,712	S109G	probably damaging	Het
Igfn1	A	G	1: 135,954,680	V2809A	probably damaging	Het
Izumo1	T	A	7: 45,627,112	D366E	probably benign	Het
Kctd20	A	T	17: 28,957,898	M1L	possibly damaging	Het
Lct	C	T	1: 128,286,609	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983	I353V	probably damaging	Het
Mybl2	T	C	2: 163,075,768	Y65H	probably benign	Het
Myh11	C	T	16: 14,203,178	E1744K	probably damaging	Het
Neb	T	C	2: 52,277,548	D1922G	probably damaging	Het
Nepro	C	A	16: 44,736,019	D513E	probably benign	Het
Nnt	A	T	13: 119,394,656	I185K	possibly damaging	Het
Nup155	A	G	15: 8,145,587	E956G	possibly damaging	Het
Olfr1375	A	G	11: 51,048,427	I107V	probably benign	Het
Olfr1537	A	T	9: 39,237,850	N191K	possibly damaging	Het
Olfr237-ps1	T	A	6: 43,153,624	F106L	probably benign	Het
Olfr311	G	A	11: 58,841,652	M179I	probably benign	Het
Olfr395	T	A	11: 73,907,312	Y60F	probably damaging	Het
Olfr735	A	G	14: 50,346,088	V118A	probably damaging	Het
Olfr967	A	T	9: 39,750,391	I2L	probably benign	Het
Pah	T	C	10: 87,522,062	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,626,782	P1365Q	probably null	Het
Pds5b	G	T	5: 150,764,962	V640F	probably benign	Het
Pgam5	A	T	5: 110,267,130	H72Q	probably benign	Het
Plagl2	C	A	2: 153,232,541	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,328,807	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,198,861	V89A	probably damaging	Het
Ptprc	A	G	1: 138,101,132	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,473,283		probably null	Het
Rgsl1	A	G	1: 153,802,234		probably null	Het
Rubcn	A	C	16: 32,827,343	I681M	probably damaging	Het
Scaf11	A	G	15: 96,423,553	L169S	probably damaging	Het
Scgb1b27	A	G	7: 34,021,851	K55E	probably benign	Het
Sos1	A	T	17: 80,433,730	I542N	probably damaging	Het
Syf2	T	A	4: 134,936,063	V182D	probably damaging	Het
Tapbp	T	C	17: 33,925,743	V271A	probably benign	Het
Tmem33	T	A	5: 67,264,308	L60Q	probably damaging	Het
Tmf1	A	G	6: 97,176,323	V263A	probably damaging	Het
Vps13c	T	C	9: 67,898,738	V798A	probably benign	Het
Zfp384	C	A	6: 125,036,668	D550E	probably benign	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
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
R7408:Npat	UTSW	9	53569916	missense	probably damaging	0.99
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'- TGCTCTGGTTGCACTCTGTCAAAG -3'
(R):5'- TGCCAAAGCTGACTTGGTTGATGAG -3'

Sequencing Primer
(F):5'- GGTTGCACTCTGTCAAAGATCTC -3'
(R):5'- cccaatcgcataggaaaacag -3'

Posted On

2013-10-16