Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Npat'

364113

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 #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 53482341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1350 (Q1350*)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably null
Transcript: ENSMUST00000035850
AA Change: Q1350*

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: Q1350*

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,029,012 (GRCm39)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,727,833 (GRCm39)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,277,650 (GRCm39)	E33*	probably null	Het
Arhgap29	T	C	3: 121,786,509 (GRCm39)	V358A	probably benign	Het
B3galt1	T	C	2: 67,948,728 (GRCm39)	S148P	probably damaging	Het
BC061237	A	G	14: 44,740,779 (GRCm39)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,412,047 (GRCm39)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,076,110 (GRCm39)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,249,663 (GRCm39)		probably benign	Het
Col5a2	T	C	1: 45,424,225 (GRCm39)	D1067G	probably damaging	Het
Col9a2	A	T	4: 120,910,389 (GRCm39)	R511S	probably benign	Het
Disp3	G	A	4: 148,333,658 (GRCm39)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 141,636,667 (GRCm39)	T308A	probably benign	Het
Ern1	T	C	11: 106,314,266 (GRCm39)	N178S	probably damaging	Het
Gas6	C	A	8: 13,527,136 (GRCm39)	C204F	probably damaging	Het
Gga1	T	C	15: 78,777,522 (GRCm39)	S558P	possibly damaging	Het
Gli1	T	C	10: 127,168,279 (GRCm39)	T525A	probably benign	Het
Gse1	A	G	8: 121,304,808 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,532,958 (GRCm39)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,408,037 (GRCm39)		probably benign	Het
Htt	A	T	5: 35,034,097 (GRCm39)	E1894D	probably damaging	Het
Kcnh8	G	A	17: 53,263,650 (GRCm39)	E716K	probably benign	Het
Kntc1	A	G	5: 123,937,874 (GRCm39)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,839,931 (GRCm39)	T211A	unknown	Het
Lin54	T	C	5: 100,628,180 (GRCm39)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,082,760 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,545,678 (GRCm39)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,500,923 (GRCm39)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,544,709 (GRCm39)	L169P	probably damaging	Het
Map9	C	A	3: 82,284,428 (GRCm39)	T334K	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,602 (GRCm39)	A338T	probably damaging	Het
Mst1	A	T	9: 107,961,841 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,549,421 (GRCm39)	F602I	probably benign	Het
Mylpf	T	A	7: 126,812,798 (GRCm39)	D98E	probably benign	Het
Naca	C	A	10: 127,883,551 (GRCm39)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,891,356 (GRCm39)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Oaz3	T	C	3: 94,342,287 (GRCm39)	N123S	probably benign	Het
Patj	A	G	4: 98,299,410 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,336,923 (GRCm39)	F280L	probably benign	Het
Piezo1	A	C	8: 123,210,258 (GRCm39)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 24,905,241 (GRCm39)	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,362,233 (GRCm39)	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,744,095 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,454,947 (GRCm39)	E31G	possibly damaging	Het
Sdhc	T	C	1: 170,971,124 (GRCm39)		probably benign	Het
Smim23	G	T	11: 32,770,667 (GRCm39)	P80T	probably damaging	Het
Snupn	C	T	9: 56,864,364 (GRCm39)	T21I	probably benign	Het
Tjp2	A	G	19: 24,073,996 (GRCm39)	V1097A	probably benign	Het
Ttc16	A	G	2: 32,661,939 (GRCm39)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,703,730 (GRCm39)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,633,195 (GRCm39)	V34M	probably damaging	Het
Vwf	A	C	6: 125,592,931 (GRCm39)	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,411,611 (GRCm39)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,203,307 (GRCm39)	F18L	probably benign	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
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
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

2015-12-18