Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00949:Npat'

28204

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 #

IGL00949

Quality Score

Status

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53474662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 818 (V818A)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably benign
Transcript: ENSMUST00000035850
AA Change: V818A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: V818A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	A	G	X: 141,126,325 (GRCm39)	C303R	probably damaging	Het
Als2	C	T	1: 59,254,731 (GRCm39)	G209S	probably damaging	Het
Ankrd11	T	C	8: 123,635,467 (GRCm39)	T56A	possibly damaging	Het
Arnt	T	A	3: 95,394,579 (GRCm39)	I381N	probably damaging	Het
Atp13a1	T	C	8: 70,252,653 (GRCm39)		probably benign	Het
Cd180	A	T	13: 102,830,268 (GRCm39)	T21S	possibly damaging	Het
Cdc27	T	C	11: 104,420,229 (GRCm39)	Y138C	probably damaging	Het
Dhx16	A	G	17: 36,198,826 (GRCm39)	T753A	probably benign	Het
Dnah1	A	G	14: 31,029,047 (GRCm39)	M561T	probably benign	Het
Dsc3	C	A	18: 20,118,688 (GRCm39)	G259C	probably null	Het
Enox2	A	T	X: 48,129,484 (GRCm39)	D346E	probably benign	Het
Exoc3l	T	C	8: 106,017,130 (GRCm39)	E619G	probably benign	Het
Exosc9	T	C	3: 36,617,415 (GRCm39)		probably benign	Het
Gmpr2	C	T	14: 55,914,207 (GRCm39)		probably benign	Het
Golga1	T	C	2: 38,931,267 (GRCm39)	E289G	probably damaging	Het
H3c1	G	A	13: 23,946,014 (GRCm39)	T108I	probably damaging	Het
Jmy	A	G	13: 93,590,510 (GRCm39)	V531A	probably damaging	Het
Lamp2	T	C	X: 37,524,350 (GRCm39)	N156S	probably benign	Het
Lrrn1	C	A	6: 107,546,261 (GRCm39)	N686K	probably benign	Het
Lyst	T	C	13: 13,810,070 (GRCm39)	V580A	possibly damaging	Het
Ms4a8a	C	A	19: 11,056,808 (GRCm39)	L91F	probably benign	Het
Naip2	A	G	13: 100,298,099 (GRCm39)	F646L	probably damaging	Het
Or2w4	A	T	13: 21,795,521 (GRCm39)	I206N	probably damaging	Het
Padi3	C	A	4: 140,516,254 (GRCm39)	R542L	possibly damaging	Het
Pid1	A	G	1: 84,016,227 (GRCm39)	V46A	probably damaging	Het
Pld5	A	T	1: 175,803,039 (GRCm39)	C409S	probably damaging	Het
Plet1	A	G	9: 50,410,523 (GRCm39)	T105A	possibly damaging	Het
Polrmt	T	C	10: 79,573,431 (GRCm39)		probably null	Het
Pp2d1	T	C	17: 53,822,667 (GRCm39)	N133S	probably benign	Het
Prpf40b	G	T	15: 99,204,419 (GRCm39)	V228L	probably benign	Het
Ptgfrn	A	T	3: 100,980,161 (GRCm39)	M393K	probably benign	Het
Slc9a1	C	T	4: 133,143,762 (GRCm39)	T416I	probably benign	Het
Slc9c1	T	C	16: 45,413,721 (GRCm39)	S950P	probably benign	Het
Slitrk1	A	T	14: 109,149,241 (GRCm39)	V490D	probably damaging	Het
Th	T	C	7: 142,450,763 (GRCm39)	Y131C	probably benign	Het
Tlr6	A	G	5: 65,110,855 (GRCm39)	L684P	probably damaging	Het
Tpm3	A	G	3: 89,997,165 (GRCm39)	E234G	probably damaging	Het
Tti1	A	G	2: 157,824,319 (GRCm39)	Y1045H	probably benign	Het
Txnl4b	T	A	8: 110,295,707 (GRCm39)	V37D	probably benign	Het
Ufl1	A	T	4: 25,275,822 (GRCm39)	F194I	probably damaging	Het
Usp13	G	A	3: 32,940,726 (GRCm39)	E412K	possibly damaging	Het
Usp46	A	T	5: 74,163,903 (GRCm39)	L251Q	possibly 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
IGL00503:Npat	APN	9	53,483,949 (GRCm39)	utr 3 prime	probably benign
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
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

2013-04-17