Mutagenetix > Incidental Mutation

Incidental Mutation 'R5397:Npat'

429749

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

042968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53481774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1161 (N1161D)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035850
AA Change: N1161D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: N1161D

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,243,803 (GRCm38)	T518A	probably benign	Het
Acvr1b	T	A	15: 101,096,845 (GRCm39)	V254D	probably damaging	Het
Adar	T	C	3: 89,642,626 (GRCm39)	I169T	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arap1	A	T	7: 101,034,119 (GRCm39)	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,002,319 (GRCm39)	M1037K	probably damaging	Het
Bsg	T	A	10: 79,544,629 (GRCm39)	W56R	probably damaging	Het
C1qtnf3	A	G	15: 10,978,627 (GRCm39)	T276A	probably damaging	Het
Capn2	A	G	1: 182,298,271 (GRCm39)	C665R	probably damaging	Het
Cast	A	G	13: 74,869,056 (GRCm39)	S248P	possibly damaging	Het
Cd68	C	T	11: 69,556,484 (GRCm39)	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,276,279 (GRCm39)	W131R	probably damaging	Het
Dhx58	A	G	11: 100,594,746 (GRCm39)	V50A	probably damaging	Het
Fam124a	A	G	14: 62,843,838 (GRCm39)	S449G	probably benign	Het
Flnc	G	A	6: 29,441,160 (GRCm39)	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr149	A	G	3: 62,438,226 (GRCm39)	S644P	probably damaging	Het
Gucy1b1	G	A	3: 81,951,458 (GRCm39)	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,476,080 (GRCm39)	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Lig4	G	T	8: 10,022,644 (GRCm39)	R379S	probably benign	Het
Map7	G	A	10: 20,149,067 (GRCm39)	R514Q	unknown	Het
Mertk	T	A	2: 128,613,384 (GRCm39)	F467I	possibly damaging	Het
Mettl4	A	T	17: 95,034,705 (GRCm39)	Y463*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nme8	T	C	13: 19,878,549 (GRCm39)	D70G	probably damaging	Het
Or4k77	T	A	2: 111,199,285 (GRCm39)	C103S	probably benign	Het
Or51ac3	T	A	7: 103,213,713 (GRCm39)	I258F	probably damaging	Het
Or6c76b	T	C	10: 129,692,579 (GRCm39)	F64S	probably damaging	Het
Paxip1	A	T	5: 27,977,002 (GRCm39)		probably benign	Het
Peg10	C	CTCG	6: 4,756,453 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,679,614 (GRCm39)	T923A	probably benign	Het
Pms1	T	A	1: 53,231,279 (GRCm39)	K857*	probably null	Het
Ppp1r9b	A	G	11: 94,892,936 (GRCm39)	E260G	probably damaging	Het
Prpf3	A	T	3: 95,760,891 (GRCm39)	S4T	probably benign	Het
Rdh14	T	A	12: 10,444,869 (GRCm39)	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
S100a1	A	T	3: 90,419,442 (GRCm39)	M1K	probably null	Het
Slc2a5	G	A	4: 150,224,280 (GRCm39)		probably null	Het
Slc5a5	T	C	8: 71,343,823 (GRCm39)	T160A	probably damaging	Het
Srcap	T	G	7: 127,152,468 (GRCm39)		probably null	Het
Tgm6	T	A	2: 129,983,828 (GRCm39)	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,552,600 (GRCm39)	A201V	probably benign	Het
Trgv5	A	C	13: 19,376,728 (GRCm39)	E42D	possibly damaging	Het
Ttc13	T	C	8: 125,402,002 (GRCm39)	T662A	possibly damaging	Het
Ttn	T	C	2: 76,555,599 (GRCm39)	T30469A	probably damaging	Het
Ube3a	T	A	7: 58,936,660 (GRCm39)	S645R	probably benign	Het
Vgll2	A	G	10: 51,901,262 (GRCm39)	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,956,060 (GRCm39)	C76*	probably null	Het
Vmn2r101	A	G	17: 19,809,104 (GRCm39)	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,223,344 (GRCm39)		probably benign	Het
Zcchc7	C	A	4: 44,926,048 (GRCm39)	A28E	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
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'- GGAAGCATCCTTTTCTCATCTTGAC -3'
(R):5'- GTTCCACCTACAGAAGTGGC -3'

Sequencing Primer
(F):5'- ATTCTGTCCTCTACCTTAAAACCAC -3'
(R):5'- CACCTACAGAAGTGGCATTTTTATTG -3'

Posted On

2016-09-06