Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Npat'

180716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

53537047-53574342 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 53558226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably benign
Transcript: ENSMUST00000035850

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 89,861,423	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,595,371	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,602,925	L926F	probably damaging	Het
Asgr2	A	T	11: 70,098,051		probably null	Het
C3ar1	T	A	6: 122,851,235	T8S	probably benign	Het
Caskin2	T	C	11: 115,804,717	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,820,399	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,294,332		probably null	Het
Cfap45	T	G	1: 172,534,049	M231R	probably damaging	Het
Clcn7	A	C	17: 25,155,376	N464H	probably benign	Het
Col20a1	T	A	2: 181,009,368		probably benign	Het
Col7a1	T	A	9: 108,967,999		probably benign	Het
Cops7a	T	C	6: 124,962,416	D90G	probably benign	Het
Ctcf	T	C	8: 105,670,232	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Dcaf1	T	A	9: 106,859,601	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,074,132	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,718,249	E1009*	probably null	Het
Epg5	C	A	18: 77,985,101	R1286S	probably damaging	Het
Etv1	T	C	12: 38,835,061		probably benign	Het
Exosc7	T	C	9: 123,135,891		probably benign	Het
Fam227a	T	C	15: 79,612,546	D610G	possibly damaging	Het
Fat4	T	A	3: 38,979,774	M2525K	probably benign	Het
Gimap5	G	T	6: 48,753,065	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596	S79T	probably damaging	Het
Gm10093	T	C	17: 78,492,129	V183A	probably damaging	Het
Gpnmb	C	T	6: 49,047,450	T233I	probably null	Het
Hyls1	T	C	9: 35,562,067	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,495,654	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,702,307	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,963,339	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,755,843	V264D	probably damaging	Het
Jph1	A	T	1: 17,097,384	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,358,274	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,025,087	F144S	probably damaging	Het
Kcnq1	G	A	7: 143,184,504	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,397,355	V813E	probably damaging	Het
Kntc1	T	A	5: 123,811,376	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lgr5	T	C	10: 115,452,414	N703S	probably damaging	Het
Map4k1	A	T	7: 28,988,607	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,613,519	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,891,726	G350C	probably damaging	Het
Myh2	A	T	11: 67,191,773	T1390S	possibly damaging	Het
Nr2e1	T	A	10: 42,567,973	D251V	possibly damaging	Het
Olfr1425	C	T	19: 12,074,057	V192I	probably benign	Het
Olfr1461	C	A	19: 13,165,403	P130T	probably damaging	Het
Olfr54	A	G	11: 51,027,335	N111S	probably benign	Het
Plekha5	T	A	6: 140,524,895	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,479,188	V368A	probably damaging	Het
Psmb8	T	A	17: 34,200,194	L154Q	probably damaging	Het
Rab40c	A	C	17: 25,884,670	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,487,689	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,428,698	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,154,638	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,802,434	H111R	probably damaging	Het
Sspo	C	A	6: 48,475,887	P2843H	probably damaging	Het
Stk39	T	C	2: 68,314,564	T389A	probably benign	Het
Synrg	T	A	11: 84,019,705	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,687,814	S229N	probably benign	Het
Thsd1	G	A	8: 22,252,231	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,694,549	D1387E	probably benign	Het
Tmem145	G	T	7: 25,311,391	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,179,420	V187A	probably damaging	Het
Unc13c	T	A	9: 73,693,242	M1407L	probably benign	Het
Vps39	C	T	2: 120,323,128	G655D	probably benign	Het
Wwtr1	T	C	3: 57,574,820		probably benign	Het
Xrn1	T	C	9: 96,048,344	S1535P	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
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
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

Posted On

2014-05-07