Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02215:Npat'

284838

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 #

IGL02215

Quality Score

Status

Chromosome

Chromosomal Location

53537047-53574342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53559117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 348 (S348T)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably benign
Transcript: ENSMUST00000035850
AA Change: S348T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: S348T

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 127,395,573 (GRCm38)	S378R	probably benign	Het
Abca14	T	A	7: 120,253,389 (GRCm38)	M859K	probably benign	Het
Adamts13	C	T	2: 26,985,483 (GRCm38)	P462S	probably damaging	Het
Apol7a	G	T	15: 77,393,490 (GRCm38)	D19E	possibly damaging	Het
Armc8	T	C	9: 99,483,978 (GRCm38)	N628D	possibly damaging	Het
Astn2	T	A	4: 66,266,234 (GRCm38)	I209F	unknown	Het
Atp10b	T	C	11: 43,194,665 (GRCm38)		probably null	Het
C4b	C	T	17: 34,734,491 (GRCm38)	C1006Y	probably damaging	Het
Capn13	A	G	17: 73,330,998 (GRCm38)	L470P	probably damaging	Het
Col4a4	T	C	1: 82,453,809 (GRCm38)	R1585G	unknown	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Csmd3	C	T	15: 47,585,688 (GRCm38)	V3637M	probably damaging	Het
Dgki	C	T	6: 37,016,675 (GRCm38)	D584N	probably damaging	Het
Dmrt2	T	C	19: 25,678,134 (GRCm38)	S366P	probably damaging	Het
Dmtf1	A	C	5: 9,136,070 (GRCm38)	L172R	probably damaging	Het
Efhc2	A	G	X: 17,230,578 (GRCm38)	F177L	probably damaging	Het
Enpep	T	A	3: 129,270,277 (GRCm38)		probably benign	Het
Enpp6	A	T	8: 47,065,932 (GRCm38)	D245V	probably damaging	Het
Fam199x	T	A	X: 137,062,650 (GRCm38)		probably benign	Het
Fkbp4	A	T	6: 128,434,470 (GRCm38)		probably benign	Het
Gas7	A	G	11: 67,643,332 (GRCm38)	H86R	probably benign	Het
Gcc2	A	G	10: 58,271,636 (GRCm38)	N862S	probably benign	Het
Gstm7	T	C	3: 107,930,278 (GRCm38)	D115G	possibly damaging	Het
Gtse1	C	A	15: 85,862,598 (GRCm38)	P205Q	possibly damaging	Het
H2bc1	A	T	13: 23,934,110 (GRCm38)	F16Y	probably benign	Het
Herc4	G	A	10: 63,273,566 (GRCm38)	M193I	probably benign	Het
Igfl3	T	A	7: 18,179,838 (GRCm38)	C38S	possibly damaging	Het
Il18rap	G	A	1: 40,547,922 (GRCm38)	D455N	probably damaging	Het
Ints8	A	G	4: 11,209,244 (GRCm38)	I932T	probably damaging	Het
Itgbl1	A	C	14: 123,972,141 (GRCm38)	I311L	probably benign	Het
Jmjd1c	A	T	10: 67,220,322 (GRCm38)	H794L	probably damaging	Het
Kif1a	A	G	1: 93,020,549 (GRCm38)	S1542P	probably benign	Het
Klc3	T	A	7: 19,395,825 (GRCm38)	N373I	probably damaging	Het
Lcn2	T	C	2: 32,384,865 (GRCm38)	*201W	probably null	Het
Ldhb	A	T	6: 142,495,566 (GRCm38)		probably null	Het
Lyst	G	A	13: 13,660,956 (GRCm38)	C1741Y	probably benign	Het
Pclo	A	T	5: 14,856,985 (GRCm38)	D5001V	unknown	Het
Peg3	C	A	7: 6,709,011 (GRCm38)	A1071S	probably benign	Het
Piwil2	A	T	14: 70,391,373 (GRCm38)	D731E	possibly damaging	Het
Prss41	T	A	17: 23,843,856 (GRCm38)	D35V	probably benign	Het
Ptprz1	T	A	6: 22,965,182 (GRCm38)	D159E	possibly damaging	Het
Rabep1	C	T	11: 70,923,197 (GRCm38)	Q571*	probably null	Het
Scn8a	A	G	15: 101,029,572 (GRCm38)		probably null	Het
Sipa1l2	G	A	8: 125,447,837 (GRCm38)	T1234I	possibly damaging	Het
Slc5a10	T	A	11: 61,673,912 (GRCm38)	M414L	probably benign	Het
Smg5	T	C	3: 88,352,998 (GRCm38)	S632P	possibly damaging	Het
Smim15	A	G	13: 108,047,514 (GRCm38)	D18G	probably benign	Het
Sorl1	T	A	9: 42,018,182 (GRCm38)	I1132F	probably damaging	Het
Spatc1	T	C	15: 76,283,539 (GRCm38)		probably benign	Het
Sytl2	A	T	7: 90,381,214 (GRCm38)		probably benign	Het
Tesc	A	G	5: 118,061,618 (GRCm38)	D195G	probably damaging	Het
Tmem39b	T	A	4: 129,692,518 (GRCm38)		probably null	Het
Vmn2r52	A	G	7: 10,171,102 (GRCm38)	V270A	probably damaging	Het
Wdr3	C	A	3: 100,146,700 (GRCm38)		probably null	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
IGL01626:Npat	APN	9	53,556,571 (GRCm38)	missense	possibly damaging	0.92
IGL01936:Npat	APN	9	53,558,226 (GRCm38)	splice site	probably benign
IGL02142:Npat	APN	9	53,569,907 (GRCm38)	missense	probably benign
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

2015-04-16