Mutagenetix > Incidental Mutation

Incidental Mutation 'R2432:Npat'

250453

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

040393-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53469435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 307 (H307L)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035850
AA Change: H307L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: H307L

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

Meta Mutation Damage Score

0.4756

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,401,333 (GRCm39)		probably benign	Het
Adamts6	A	T	13: 104,563,485 (GRCm39)	Y659F	probably benign	Het
Adamts9	C	A	6: 92,834,881 (GRCm39)	G750W	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Aspscr1	A	G	11: 120,593,392 (GRCm39)		probably benign	Het
Calr3	A	G	8: 73,192,270 (GRCm39)		probably benign	Het
Cpt2	A	T	4: 107,761,723 (GRCm39)	Y126*	probably null	Het
Cyp2d34	A	G	15: 82,503,212 (GRCm39)	L94P	probably damaging	Het
Def6	A	T	17: 28,447,043 (GRCm39)	D558V	probably benign	Het
Dnase1l2	G	A	17: 24,661,699 (GRCm39)	T20I	possibly damaging	Het
Eif5b	A	G	1: 38,058,423 (GRCm39)	K242E	unknown	Het
Golim4	T	C	3: 75,799,249 (GRCm39)	N478S	possibly damaging	Het
Helb	A	T	10: 119,941,442 (GRCm39)	D415E	probably benign	Het
Ifna12	T	A	4: 88,521,590 (GRCm39)		probably benign	Het
Jhy	T	A	9: 40,872,182 (GRCm39)	H109L	probably benign	Het
Krt87	A	T	15: 101,386,037 (GRCm39)	Y241*	probably null	Het
Macf1	G	T	4: 123,577,789 (GRCm39)	A65E	probably damaging	Het
Mug2	C	A	6: 122,061,335 (GRCm39)	N1418K	possibly damaging	Het
Myo1f	A	G	17: 33,794,823 (GRCm39)	D21G	probably damaging	Het
Myo5a	T	A	9: 75,120,155 (GRCm39)	I1651N	possibly damaging	Het
Notch3	A	T	17: 32,372,778 (GRCm39)	C598S	probably damaging	Het
Nr1h2	T	C	7: 44,200,791 (GRCm39)	Q279R	possibly damaging	Het
Or4k52	T	C	2: 111,611,016 (GRCm39)	V117A	probably benign	Het
Or6c6c	A	G	10: 129,540,794 (GRCm39)	T16A	possibly damaging	Het
Pcdhb16	A	T	18: 37,612,983 (GRCm39)	N648Y	probably damaging	Het
Pdzrn3	G	T	6: 101,127,752 (GRCm39)	S971R	probably damaging	Het
Plch2	A	G	4: 155,070,621 (GRCm39)	*494Q	probably null	Het
Plekhg4	T	A	8: 106,108,468 (GRCm39)	D1170E	probably benign	Het
Plekhm3	A	G	1: 64,977,015 (GRCm39)	S152P	probably damaging	Het
Ppargc1b	G	A	18: 61,440,870 (GRCm39)	P683S	possibly damaging	Het
Prdm12	T	G	2: 31,541,864 (GRCm39)	M191R	probably benign	Het
Prdm14	T	C	1: 13,195,857 (GRCm39)	D68G	probably benign	Het
Prp2	C	T	6: 132,576,874 (GRCm39)	P54S	unknown	Het
Prpf4b	A	G	13: 35,067,324 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,468,840 (GRCm39)	V1408E	probably damaging	Het
Rap1gds1	A	G	3: 138,662,011 (GRCm39)	M415T	probably damaging	Het
Rps6ka5	A	G	12: 100,520,664 (GRCm39)	F621S	probably damaging	Het
Rrm1	T	A	7: 102,092,279 (GRCm39)	D35E	probably benign	Het
Rxfp3	T	C	15: 11,036,226 (GRCm39)	H382R	probably damaging	Het
Slc11a1	A	G	1: 74,422,910 (GRCm39)		probably benign	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc30a3	T	C	5: 31,246,038 (GRCm39)	S231G	probably damaging	Het
Slc44a2	A	T	9: 21,256,130 (GRCm39)	I274F	probably damaging	Het
Tas2r119	A	G	15: 32,178,165 (GRCm39)	I244V	possibly damaging	Het
Tenm2	C	A	11: 35,918,018 (GRCm39)	R1914L	probably damaging	Het
Tfdp2	T	C	9: 96,192,643 (GRCm39)	M242T	probably damaging	Het
Tmprss6	A	G	15: 78,349,304 (GRCm39)		probably benign	Het
Ttc6	C	T	12: 57,668,821 (GRCm39)	P421L	possibly damaging	Het
Usp16	T	A	16: 87,263,246 (GRCm39)		probably null	Het
Usp40	T	C	1: 87,909,804 (GRCm39)	E550G	probably benign	Het
Vmn2r28	T	C	7: 5,491,701 (GRCm39)	Y182C	probably damaging	Het
Zfp382	A	G	7: 29,833,174 (GRCm39)	D275G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCCCTCTGTGATGTTGG -3'
(R):5'- CAGAAGTCCTGGGTGATGTTAC -3'

Sequencing Primer
(F):5'- GAGTAGACTCCGATCTGTCCTATC -3'
(R):5'- AAGTCCTGGGTGATGTTACTTAATTC -3'

Posted On

2014-11-12