Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01626:Npat'

92727

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 #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

53537047-53574342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53556571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 275 (D275E)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035850
AA Change: D275E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: D275E

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174 (GRCm38)	D188G	probably damaging	Het
Aoc1	A	G	6: 48,906,531 (GRCm38)	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887 (GRCm38)	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,943,607 (GRCm38)	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,584,616 (GRCm38)		probably null	Het
Ecpas	G	A	4: 58,832,814 (GRCm38)		probably benign	Het
Fat4	T	C	3: 38,951,032 (GRCm38)	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705 (GRCm38)	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231 (GRCm38)	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331 (GRCm38)	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495 (GRCm38)	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619 (GRCm38)	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,232,855 (GRCm38)	V406A	possibly damaging	Het
Herc2	T	C	7: 56,085,142 (GRCm38)	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332 (GRCm38)	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202 (GRCm38)	Y406C	probably damaging	Het
Lepr	C	T	4: 101,733,534 (GRCm38)	T103I	probably benign	Het
Ly75	T	A	2: 60,301,015 (GRCm38)	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809 (GRCm38)	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512 (GRCm38)	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402 (GRCm38)	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966 (GRCm38)	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345 (GRCm38)	K472*	probably null	Het
Nt5c1b	A	G	12: 10,374,798 (GRCm38)	T115A	probably benign	Het
Olfr709-ps1	A	T	7: 106,927,420 (GRCm38)	I13N	probably benign	Het
Or6n1	A	G	1: 174,089,556 (GRCm38)	N172S	probably damaging	Het
Pnpla7	T	A	2: 25,050,893 (GRCm38)	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372 (GRCm38)		probably null	Het
Ppfia1	A	G	7: 144,481,719 (GRCm38)	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718 (GRCm38)	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727 (GRCm38)	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787 (GRCm38)	D91G	probably damaging	Het
Scaper	C	T	9: 55,912,051 (GRCm38)	V127M	possibly damaging	Het
Sema3g	A	T	14: 31,221,727 (GRCm38)	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987 (GRCm38)	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395 (GRCm38)	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971 (GRCm38)	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648 (GRCm38)	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020 (GRCm38)	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440 (GRCm38)	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968 (GRCm38)	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889 (GRCm38)	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738 (GRCm38)		probably benign	Het
Unc80	T	C	1: 66,551,054 (GRCm38)		probably null	Het
Vldlr	G	T	19: 27,243,773 (GRCm38)	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686 (GRCm38)	R35*	probably null	Het
Zc3h14	T	G	12: 98,779,186 (GRCm38)	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,228,412 (GRCm38)	H27R	probably damaging	Het

Other mutations in Npat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Npat	APN	9	53,566,800 (GRCm38)	missense	possibly damaging	0.82
IGL00503:Npat	APN	9	53,572,649 (GRCm38)	utr 3 prime	probably benign
IGL00694:Npat	APN	9	53,563,517 (GRCm38)	missense	probably benign	0.00
IGL00731:Npat	APN	9	53,562,086 (GRCm38)	missense	probably damaging	0.99
IGL00907:Npat	APN	9	53,563,290 (GRCm38)	missense	possibly damaging	0.64
IGL00949:Npat	APN	9	53,563,362 (GRCm38)	missense	probably benign	0.17
IGL01403:Npat	APN	9	53,555,129 (GRCm38)	missense	probably benign	0.02
IGL01936:Npat	APN	9	53,558,226 (GRCm38)	splice site	probably benign
IGL02142:Npat	APN	9	53,569,907 (GRCm38)	missense	probably benign
IGL02215:Npat	APN	9	53,559,117 (GRCm38)	missense	probably benign	0.00
IGL02250:Npat	APN	9	53,548,951 (GRCm38)	nonsense	probably null
IGL02624:Npat	APN	9	53,566,810 (GRCm38)	missense	probably damaging	1.00
IGL02928:Npat	APN	9	53,566,838 (GRCm38)	splice site	probably benign
IGL02931:Npat	APN	9	53,571,041 (GRCm38)	nonsense	probably null
IGL03128:Npat	APN	9	53,550,033 (GRCm38)	splice site	probably benign
IGL03238:Npat	APN	9	53,570,426 (GRCm38)	missense	probably damaging	0.98
Flotsam	UTSW	9	53,570,570 (GRCm38)	nonsense	probably null
kindling	UTSW	9	53,563,449 (GRCm38)	missense	probably damaging	0.99
R0606:Npat	UTSW	9	53,556,481 (GRCm38)	critical splice donor site	probably null
R0688:Npat	UTSW	9	53,570,222 (GRCm38)	missense	probably benign	0.18
R0839:Npat	UTSW	9	53,545,180 (GRCm38)	missense	probably damaging	0.99
R0947:Npat	UTSW	9	53,570,324 (GRCm38)	missense	probably benign	0.08
R1070:Npat	UTSW	9	53,572,592 (GRCm38)	missense	probably damaging	1.00
R1480:Npat	UTSW	9	53,563,066 (GRCm38)	frame shift	probably null
R1599:Npat	UTSW	9	53,562,404 (GRCm38)	missense	possibly damaging	0.62
R1644:Npat	UTSW	9	53,570,172 (GRCm38)	missense	probably damaging	1.00
R1646:Npat	UTSW	9	53,555,134 (GRCm38)	missense	probably benign	0.32
R1699:Npat	UTSW	9	53,562,660 (GRCm38)	missense	probably benign
R1765:Npat	UTSW	9	53,570,222 (GRCm38)	missense	probably benign	0.00
R1793:Npat	UTSW	9	53,552,289 (GRCm38)	missense	probably damaging	1.00
R1866:Npat	UTSW	9	53,563,116 (GRCm38)	missense	probably damaging	1.00
R1898:Npat	UTSW	9	53,563,637 (GRCm38)	missense	probably damaging	1.00
R2018:Npat	UTSW	9	53,562,491 (GRCm38)	missense	probably benign	0.34
R2019:Npat	UTSW	9	53,562,491 (GRCm38)	missense	probably benign	0.34
R2213:Npat	UTSW	9	53,552,381 (GRCm38)	missense	probably benign	0.00
R2432:Npat	UTSW	9	53,558,135 (GRCm38)	missense	probably damaging	1.00
R3816:Npat	UTSW	9	53,569,916 (GRCm38)	missense	probably damaging	0.99
R4764:Npat	UTSW	9	53,572,620 (GRCm38)	missense	probably damaging	1.00
R4889:Npat	UTSW	9	53,562,207 (GRCm38)	missense	probably benign	0.00
R4895:Npat	UTSW	9	53,570,489 (GRCm38)	missense	probably damaging	1.00
R4923:Npat	UTSW	9	53,571,030 (GRCm38)	missense	probably damaging	1.00
R5377:Npat	UTSW	9	53,550,036 (GRCm38)	critical splice acceptor site	probably null
R5397:Npat	UTSW	9	53,570,474 (GRCm38)	missense	probably damaging	1.00
R5504:Npat	UTSW	9	53,570,264 (GRCm38)	missense	probably benign	0.01
R5509:Npat	UTSW	9	53,570,242 (GRCm38)	missense	probably benign	0.00
R5563:Npat	UTSW	9	53,563,127 (GRCm38)	missense	probably damaging	0.97
R5677:Npat	UTSW	9	53,555,100 (GRCm38)	missense	probably benign	0.00
R5868:Npat	UTSW	9	53,570,124 (GRCm38)	missense	probably damaging	0.96
R5927:Npat	UTSW	9	53,562,221 (GRCm38)	nonsense	probably null
R6009:Npat	UTSW	9	53,563,449 (GRCm38)	missense	probably damaging	0.99
R6247:Npat	UTSW	9	53,545,238 (GRCm38)	missense	probably damaging	1.00
R6434:Npat	UTSW	9	53,563,439 (GRCm38)	missense	possibly damaging	0.81
R6784:Npat	UTSW	9	53,558,158 (GRCm38)	missense	probably damaging	1.00
R6799:Npat	UTSW	9	53,551,630 (GRCm38)	missense	probably benign	0.21
R6878:Npat	UTSW	9	53,556,599 (GRCm38)	missense	probably benign
R7027:Npat	UTSW	9	53,569,916 (GRCm38)	missense	possibly damaging	0.90
R7383:Npat	UTSW	9	53,562,778 (GRCm38)	missense	probably benign
R7404:Npat	UTSW	9	53,554,933 (GRCm38)	splice site	probably null
R7408:Npat	UTSW	9	53,569,916 (GRCm38)	missense	probably damaging	0.99
R7444:Npat	UTSW	9	53,548,910 (GRCm38)	missense	probably damaging	0.97
R7755:Npat	UTSW	9	53,559,170 (GRCm38)	missense	possibly damaging	0.92
R7992:Npat	UTSW	9	53,562,867 (GRCm38)	missense	probably benign	0.00
R8108:Npat	UTSW	9	53,571,129 (GRCm38)	missense	probably benign	0.00
R8126:Npat	UTSW	9	53,552,334 (GRCm38)	missense	probably benign
R8213:Npat	UTSW	9	53,570,570 (GRCm38)	nonsense	probably null
R8354:Npat	UTSW	9	53,566,951 (GRCm38)	missense	possibly damaging	0.93
R8429:Npat	UTSW	9	53,570,609 (GRCm38)	nonsense	probably null
R8454:Npat	UTSW	9	53,566,951 (GRCm38)	missense	possibly damaging	0.93
R8865:Npat	UTSW	9	53,570,640 (GRCm38)	missense	probably benign	0.00
R8894:Npat	UTSW	9	53,556,651 (GRCm38)	missense	probably damaging	1.00
R9045:Npat	UTSW	9	53,563,476 (GRCm38)	missense	possibly damaging	0.83
R9375:Npat	UTSW	9	53,563,156 (GRCm38)	missense	possibly damaging	0.69
R9511:Npat	UTSW	9	53,562,106 (GRCm38)	missense	probably benign	0.02
R9723:Npat	UTSW	9	53,570,561 (GRCm38)	missense	probably damaging	1.00
R9723:Npat	UTSW	9	53,562,446 (GRCm38)	missense	probably benign	0.01
Z1177:Npat	UTSW	9	53,566,828 (GRCm38)	missense	probably benign	0.28

Posted On

2013-12-09