Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00503:Npat'

332512

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 #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 53483949 bp (GRCm39)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 69,083,173 (GRCm39)	R14*	probably null	Het
Abcb5	A	G	12: 118,871,336 (GRCm39)	S688P	probably benign	Het
Adgb	T	A	10: 10,281,843 (GRCm39)	Q597L	possibly damaging	Het
Aga	G	A	8: 53,971,956 (GRCm39)	V210I	probably benign	Het
Akap17b	A	G	X: 35,875,963 (GRCm39)	S515P	probably damaging	Het
Brinp3	A	T	1: 146,776,905 (GRCm39)	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,377,635 (GRCm39)	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,379,980 (GRCm39)	W402*	probably null	Het
Ccdc15	G	A	9: 37,231,769 (GRCm39)	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,228,102 (GRCm39)	E90K	probably damaging	Het
Cckbr	G	A	7: 105,083,449 (GRCm39)	M217I	probably benign	Het
Clec16a	A	G	16: 10,512,513 (GRCm39)	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,290,076 (GRCm39)		probably benign	Het
Cyp4v3	T	A	8: 45,760,058 (GRCm39)	E498V	probably damaging	Het
Dgke	T	C	11: 88,932,327 (GRCm39)	I488V	probably benign	Het
Dip2c	A	G	13: 9,617,934 (GRCm39)	D443G	probably damaging	Het
Edem3	T	G	1: 151,694,264 (GRCm39)	S852A	probably benign	Het
Fbxo8	T	A	8: 57,041,058 (GRCm39)	M158K	probably benign	Het
Galnt15	C	T	14: 31,774,313 (GRCm39)	T359M	possibly damaging	Het
Herc6	A	G	6: 57,584,130 (GRCm39)	N330D	probably benign	Het
Kdf1	T	C	4: 133,255,468 (GRCm39)	S62P	probably damaging	Het
Larp4	T	A	15: 99,885,302 (GRCm39)	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,447,299 (GRCm39)	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,928,679 (GRCm39)	Y4C	probably benign	Het
Muc17	G	T	5: 137,165,971 (GRCm39)	Y343*	probably null	Het
Myom2	A	C	8: 15,164,289 (GRCm39)		probably null	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,635,159 (GRCm39)	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,285,919 (GRCm39)	T197A	probably damaging	Het
Pkd1	A	G	17: 24,784,401 (GRCm39)	M316V	probably benign	Het
Plekhs1	T	C	19: 56,453,031 (GRCm39)		probably null	Het
Sema3e	G	T	5: 14,290,586 (GRCm39)	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,424,008 (GRCm39)	N154S	probably benign	Het
Smg1	A	T	7: 117,784,706 (GRCm39)		probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spats1	A	T	17: 45,765,011 (GRCm39)		probably null	Het
Tnfaip6	T	G	2: 51,945,859 (GRCm39)	V235G	probably damaging	Het
Trim34a	A	T	7: 103,910,538 (GRCm39)	T447S	probably damaging	Het
Tut1	G	A	19: 8,936,460 (GRCm39)	A95T	probably damaging	Het
Urgcp	C	T	11: 5,666,448 (GRCm39)	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,006,106 (GRCm39)	M1I	probably null	Het
Vmn2r99	A	G	17: 19,599,116 (GRCm39)	T267A	probably benign	Het
Wdr5	A	G	2: 27,410,879 (GRCm39)	K162E	probably benign	Het
Zscan26	T	G	13: 21,629,271 (GRCm39)	K285Q	probably damaging	Het

Other mutations in Npat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Npat	APN	9	53,478,100 (GRCm39)	missense	possibly damaging	0.82
IGL00694:Npat	APN	9	53,474,817 (GRCm39)	missense	probably benign	0.00
IGL00731:Npat	APN	9	53,473,386 (GRCm39)	missense	probably damaging	0.99
IGL00907:Npat	APN	9	53,474,590 (GRCm39)	missense	possibly damaging	0.64
IGL00949:Npat	APN	9	53,474,662 (GRCm39)	missense	probably benign	0.17
IGL01403:Npat	APN	9	53,466,429 (GRCm39)	missense	probably benign	0.02
IGL01626:Npat	APN	9	53,467,871 (GRCm39)	missense	possibly damaging	0.92
IGL01936:Npat	APN	9	53,469,526 (GRCm39)	splice site	probably benign
IGL02142:Npat	APN	9	53,481,207 (GRCm39)	missense	probably benign
IGL02215:Npat	APN	9	53,470,417 (GRCm39)	missense	probably benign	0.00
IGL02250:Npat	APN	9	53,460,251 (GRCm39)	nonsense	probably null
IGL02624:Npat	APN	9	53,478,110 (GRCm39)	missense	probably damaging	1.00
IGL02928:Npat	APN	9	53,478,138 (GRCm39)	splice site	probably benign
IGL02931:Npat	APN	9	53,482,341 (GRCm39)	nonsense	probably null
IGL03128:Npat	APN	9	53,461,333 (GRCm39)	splice site	probably benign
IGL03238:Npat	APN	9	53,481,726 (GRCm39)	missense	probably damaging	0.98
Flotsam	UTSW	9	53,481,870 (GRCm39)	nonsense	probably null
kindling	UTSW	9	53,474,749 (GRCm39)	missense	probably damaging	0.99
R0606:Npat	UTSW	9	53,467,781 (GRCm39)	critical splice donor site	probably null
R0688:Npat	UTSW	9	53,481,522 (GRCm39)	missense	probably benign	0.18
R0839:Npat	UTSW	9	53,456,480 (GRCm39)	missense	probably damaging	0.99
R0947:Npat	UTSW	9	53,481,624 (GRCm39)	missense	probably benign	0.08
R1070:Npat	UTSW	9	53,483,892 (GRCm39)	missense	probably damaging	1.00
R1480:Npat	UTSW	9	53,474,366 (GRCm39)	frame shift	probably null
R1599:Npat	UTSW	9	53,473,704 (GRCm39)	missense	possibly damaging	0.62
R1644:Npat	UTSW	9	53,481,472 (GRCm39)	missense	probably damaging	1.00
R1646:Npat	UTSW	9	53,466,434 (GRCm39)	missense	probably benign	0.32
R1699:Npat	UTSW	9	53,473,960 (GRCm39)	missense	probably benign
R1765:Npat	UTSW	9	53,481,522 (GRCm39)	missense	probably benign	0.00
R1793:Npat	UTSW	9	53,463,589 (GRCm39)	missense	probably damaging	1.00
R1866:Npat	UTSW	9	53,474,416 (GRCm39)	missense	probably damaging	1.00
R1898:Npat	UTSW	9	53,474,937 (GRCm39)	missense	probably damaging	1.00
R2018:Npat	UTSW	9	53,473,791 (GRCm39)	missense	probably benign	0.34
R2019:Npat	UTSW	9	53,473,791 (GRCm39)	missense	probably benign	0.34
R2213:Npat	UTSW	9	53,463,681 (GRCm39)	missense	probably benign	0.00
R2432:Npat	UTSW	9	53,469,435 (GRCm39)	missense	probably damaging	1.00
R3816:Npat	UTSW	9	53,481,216 (GRCm39)	missense	probably damaging	0.99
R4764:Npat	UTSW	9	53,483,920 (GRCm39)	missense	probably damaging	1.00
R4889:Npat	UTSW	9	53,473,507 (GRCm39)	missense	probably benign	0.00
R4895:Npat	UTSW	9	53,481,789 (GRCm39)	missense	probably damaging	1.00
R4923:Npat	UTSW	9	53,482,330 (GRCm39)	missense	probably damaging	1.00
R5377:Npat	UTSW	9	53,461,336 (GRCm39)	critical splice acceptor site	probably null
R5397:Npat	UTSW	9	53,481,774 (GRCm39)	missense	probably damaging	1.00
R5504:Npat	UTSW	9	53,481,564 (GRCm39)	missense	probably benign	0.01
R5509:Npat	UTSW	9	53,481,542 (GRCm39)	missense	probably benign	0.00
R5563:Npat	UTSW	9	53,474,427 (GRCm39)	missense	probably damaging	0.97
R5677:Npat	UTSW	9	53,466,400 (GRCm39)	missense	probably benign	0.00
R5868:Npat	UTSW	9	53,481,424 (GRCm39)	missense	probably damaging	0.96
R5927:Npat	UTSW	9	53,473,521 (GRCm39)	nonsense	probably null
R6009:Npat	UTSW	9	53,474,749 (GRCm39)	missense	probably damaging	0.99
R6247:Npat	UTSW	9	53,456,538 (GRCm39)	missense	probably damaging	1.00
R6434:Npat	UTSW	9	53,474,739 (GRCm39)	missense	possibly damaging	0.81
R6784:Npat	UTSW	9	53,469,458 (GRCm39)	missense	probably damaging	1.00
R6799:Npat	UTSW	9	53,462,930 (GRCm39)	missense	probably benign	0.21
R6878:Npat	UTSW	9	53,467,899 (GRCm39)	missense	probably benign
R7027:Npat	UTSW	9	53,481,216 (GRCm39)	missense	possibly damaging	0.90
R7383:Npat	UTSW	9	53,474,078 (GRCm39)	missense	probably benign
R7404:Npat	UTSW	9	53,466,233 (GRCm39)	splice site	probably null
R7408:Npat	UTSW	9	53,481,216 (GRCm39)	missense	probably damaging	0.99
R7444:Npat	UTSW	9	53,460,210 (GRCm39)	missense	probably damaging	0.97
R7755:Npat	UTSW	9	53,470,470 (GRCm39)	missense	possibly damaging	0.92
R7992:Npat	UTSW	9	53,474,167 (GRCm39)	missense	probably benign	0.00
R8108:Npat	UTSW	9	53,482,429 (GRCm39)	missense	probably benign	0.00
R8126:Npat	UTSW	9	53,463,634 (GRCm39)	missense	probably benign
R8213:Npat	UTSW	9	53,481,870 (GRCm39)	nonsense	probably null
R8354:Npat	UTSW	9	53,478,251 (GRCm39)	missense	possibly damaging	0.93
R8429:Npat	UTSW	9	53,481,909 (GRCm39)	nonsense	probably null
R8454:Npat	UTSW	9	53,478,251 (GRCm39)	missense	possibly damaging	0.93
R8865:Npat	UTSW	9	53,481,940 (GRCm39)	missense	probably benign	0.00
R8894:Npat	UTSW	9	53,467,951 (GRCm39)	missense	probably damaging	1.00
R9045:Npat	UTSW	9	53,474,776 (GRCm39)	missense	possibly damaging	0.83
R9375:Npat	UTSW	9	53,474,456 (GRCm39)	missense	possibly damaging	0.69
R9511:Npat	UTSW	9	53,473,406 (GRCm39)	missense	probably benign	0.02
R9723:Npat	UTSW	9	53,481,861 (GRCm39)	missense	probably damaging	1.00
R9723:Npat	UTSW	9	53,473,746 (GRCm39)	missense	probably benign	0.01
Z1177:Npat	UTSW	9	53,478,128 (GRCm39)	missense	probably benign	0.28

Posted On

2015-08-05