Mutagenetix > Incidental Mutation

Incidental Mutation 'R8126:Npat'

631767

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

067555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53463634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 139 (V139A)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably benign
Transcript: ENSMUST00000035850
AA Change: V139A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: V139A

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

0.0846

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Aplp1	T	A	7: 30,141,164 (GRCm39)	D299V	probably damaging	Het
Atad2	T	C	15: 57,968,987 (GRCm39)	I841M	probably benign	Het
Bdp1	T	C	13: 100,192,790 (GRCm39)	E1348G	probably damaging	Het
Cacna1a	A	G	8: 85,359,881 (GRCm39)	T1948A	probably benign	Het
Cdh12	T	C	15: 21,558,393 (GRCm39)	Y431H	probably benign	Het
Cfap74	C	A	4: 155,511,831 (GRCm39)	D446E		Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col4a4	T	C	1: 82,431,007 (GRCm39)	T1632A	unknown	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Cspg4b	T	A	13: 113,504,697 (GRCm39)	I1942N		Het
Cstl1	A	G	2: 148,596,591 (GRCm39)	E98G	probably benign	Het
Ddx49	A	T	8: 70,748,246 (GRCm39)	I303N	probably damaging	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gm14295	A	G	2: 176,502,658 (GRCm39)	D716G	probably benign	Het
Gsap	T	A	5: 21,475,010 (GRCm39)	H556Q	probably benign	Het
Hsp90b1	T	C	10: 86,530,246 (GRCm39)	I538V	probably damaging	Het
Ighv1-49	C	T	12: 115,019,230 (GRCm39)		probably benign	Het
Lrrk1	T	C	7: 65,942,063 (GRCm39)	N725S	probably damaging	Het
Mfsd4b2	A	G	10: 39,797,984 (GRCm39)	S124P	probably benign	Het
Ncoa1	A	T	12: 4,340,951 (GRCm39)	L827Q	probably damaging	Het
Ncor2	T	C	5: 125,183,268 (GRCm39)	N59D	unknown	Het
Nfkbid	T	A	7: 30,123,799 (GRCm39)	S120T	probably benign	Het
Nktr	T	C	9: 121,575,514 (GRCm39)	Y341H	probably damaging	Het
Or5ae1	T	A	7: 84,565,114 (GRCm39)	N42K	probably damaging	Het
Plxnb2	T	C	15: 89,047,506 (GRCm39)	D721G	probably benign	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp3ca	T	A	3: 136,608,952 (GRCm39)	D348E	probably damaging	Het
Pramel21	T	A	4: 143,343,635 (GRCm39)	C312S	possibly damaging	Het
Rnf146	T	C	10: 29,223,372 (GRCm39)	I171M	probably damaging	Het
Snrpa	G	T	7: 26,892,373 (GRCm39)	F62L	possibly damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
Tbc1d2b	T	C	9: 90,104,369 (GRCm39)	H591R	probably benign	Het
Tnfsf8	T	G	4: 63,752,423 (GRCm39)	D214A	possibly damaging	Het
Trdmt1	C	T	2: 13,524,816 (GRCm39)	R213H	probably benign	Het
Uspl1	C	T	5: 149,151,430 (GRCm39)	L877F	probably damaging	Het
Vmn1r22	C	A	6: 57,877,669 (GRCm39)	V103F	possibly damaging	Het
Vmn2r102	T	C	17: 19,880,712 (GRCm39)	S18P	probably benign	Het
Vmn2r-ps117	A	T	17: 19,042,814 (GRCm39)	Y74F	probably benign	Het
Wdr90	A	G	17: 26,067,951 (GRCm39)	F1429S	possibly damaging	Het
Zdhhc20	C	A	14: 58,084,402 (GRCm39)	V238F	probably damaging	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
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
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'- GCATATAGGCCATGCAACATAG -3'
(R):5'- TCTTGTGGCTGAACAATTGTC -3'

Sequencing Primer
(F):5'- CCATGCAACATAGTGTCTTGGTCAG -3'
(R):5'- ATCTCGCCCTTGGGCCATG -3'

Posted On

2020-06-30