Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Npat'

79717

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 #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

53537047-53574342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53555129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 239 (F239L)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably benign
Transcript: ENSMUST00000035850
AA Change: F239L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: F239L

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Bbx	T	C	16: 50,202,513	I753V	probably benign	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Ckmt1	T	C	2: 121,362,966		probably benign	Het
Csf1r	A	G	18: 61,114,825	T322A	probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Irs3	A	G	5: 137,645,319	F68L	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pola2	T	C	19: 5,959,093	H79R	probably benign	Het
Pramef20	A	T	4: 144,377,133	M141K	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	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
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
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

2013-11-05