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

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53470417 bp (GRCm39)

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: 126,303,196 (GRCm39)	S378R	probably benign	Het
Abca14	T	A	7: 119,852,612 (GRCm39)	M859K	probably benign	Het
Adamts13	C	T	2: 26,875,495 (GRCm39)	P462S	probably damaging	Het
Apol7a	G	T	15: 77,277,690 (GRCm39)	D19E	possibly damaging	Het
Armc8	T	C	9: 99,366,031 (GRCm39)	N628D	possibly damaging	Het
Astn2	T	A	4: 66,184,471 (GRCm39)	I209F	unknown	Het
Atp10b	T	C	11: 43,085,492 (GRCm39)		probably null	Het
C4b	C	T	17: 34,953,465 (GRCm39)	C1006Y	probably damaging	Het
Capn13	A	G	17: 73,637,993 (GRCm39)	L470P	probably damaging	Het
Col4a4	T	C	1: 82,431,530 (GRCm39)	R1585G	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd3	C	T	15: 47,449,084 (GRCm39)	V3637M	probably damaging	Het
Dgki	C	T	6: 36,993,610 (GRCm39)	D584N	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dmtf1	A	C	5: 9,186,070 (GRCm39)	L172R	probably damaging	Het
Efhc2	A	G	X: 17,096,817 (GRCm39)	F177L	probably damaging	Het
Enpep	T	A	3: 129,063,926 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,967 (GRCm39)	D245V	probably damaging	Het
Fam199x	T	A	X: 135,963,399 (GRCm39)		probably benign	Het
Fkbp4	A	T	6: 128,411,433 (GRCm39)		probably benign	Het
Gas7	A	G	11: 67,534,158 (GRCm39)	H86R	probably benign	Het
Gcc2	A	G	10: 58,107,458 (GRCm39)	N862S	probably benign	Het
Gstm7	T	C	3: 107,837,594 (GRCm39)	D115G	possibly damaging	Het
Gtse1	C	A	15: 85,746,799 (GRCm39)	P205Q	possibly damaging	Het
H2bc1	A	T	13: 24,118,093 (GRCm39)	F16Y	probably benign	Het
Herc4	G	A	10: 63,109,345 (GRCm39)	M193I	probably benign	Het
Igfl3	T	A	7: 17,913,763 (GRCm39)	C38S	possibly damaging	Het
Il18rap	G	A	1: 40,587,082 (GRCm39)	D455N	probably damaging	Het
Ints8	A	G	4: 11,209,244 (GRCm39)	I932T	probably damaging	Het
Itgbl1	A	C	14: 124,209,553 (GRCm39)	I311L	probably benign	Het
Jmjd1c	A	T	10: 67,056,101 (GRCm39)	H794L	probably damaging	Het
Kif1a	A	G	1: 92,948,271 (GRCm39)	S1542P	probably benign	Het
Klc3	T	A	7: 19,129,750 (GRCm39)	N373I	probably damaging	Het
Lcn2	T	C	2: 32,274,877 (GRCm39)	*201W	probably null	Het
Ldhb	A	T	6: 142,441,292 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Pclo	A	T	5: 14,906,999 (GRCm39)	D5001V	unknown	Het
Peg3	C	A	7: 6,712,010 (GRCm39)	A1071S	probably benign	Het
Piwil2	A	T	14: 70,628,822 (GRCm39)	D731E	possibly damaging	Het
Prss41	T	A	17: 24,062,830 (GRCm39)	D35V	probably benign	Het
Ptprz1	T	A	6: 22,965,181 (GRCm39)	D159E	possibly damaging	Het
Rabep1	C	T	11: 70,814,023 (GRCm39)	Q571*	probably null	Het
Scn8a	A	G	15: 100,927,453 (GRCm39)		probably null	Het
Sipa1l2	G	A	8: 126,174,576 (GRCm39)	T1234I	possibly damaging	Het
Slc5a10	T	A	11: 61,564,738 (GRCm39)	M414L	probably benign	Het
Smg5	T	C	3: 88,260,305 (GRCm39)	S632P	possibly damaging	Het
Smim15	A	G	13: 108,184,048 (GRCm39)	D18G	probably benign	Het
Sorl1	T	A	9: 41,929,478 (GRCm39)	I1132F	probably damaging	Het
Spatc1	T	C	15: 76,167,739 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,030,422 (GRCm39)		probably benign	Het
Tesc	A	G	5: 118,199,683 (GRCm39)	D195G	probably damaging	Het
Tmem39b	T	A	4: 129,586,311 (GRCm39)		probably null	Het
Vmn2r52	A	G	7: 9,905,029 (GRCm39)	V270A	probably damaging	Het
Wdr3	C	A	3: 100,054,016 (GRCm39)		probably null	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
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
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

2015-04-16