Mutagenetix > Incidental Mutation

Incidental Mutation 'R5868:Npat'

454282

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

044076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53481424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1044 (E1044G)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035850
AA Change: E1044G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: E1044G

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

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.8%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	A	11: 69,788,401 (GRCm39)	K394N	possibly damaging	Het
Adamts18	T	A	8: 114,504,380 (GRCm39)	Q80L	possibly damaging	Het
Apbb2	T	A	5: 66,609,439 (GRCm39)	K69N	probably damaging	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
BC035947	T	A	1: 78,474,960 (GRCm39)	N524I	probably damaging	Het
Bpifa1	A	G	2: 153,985,796 (GRCm39)	N37S	unknown	Het
Cfap91	T	A	16: 38,152,604 (GRCm39)	D202V	probably damaging	Het
Crnkl1	A	T	2: 145,760,473 (GRCm39)	D648E	probably benign	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Cyfip1	A	C	7: 55,576,061 (GRCm39)	D1077A	probably damaging	Het
Dennd4a	T	C	9: 64,804,011 (GRCm39)	S1117P	probably benign	Het
Dnaaf8	T	C	16: 4,791,932 (GRCm39)		noncoding transcript	Het
Elmo2	A	T	2: 165,136,192 (GRCm39)	M618K	possibly damaging	Het
Fggy	A	G	4: 95,585,225 (GRCm39)	T35A	probably damaging	Het
Gad2	G	A	2: 22,575,079 (GRCm39)		probably null	Het
Gtf3c2	A	C	5: 31,325,425 (GRCm39)	F455V	possibly damaging	Het
H4c16	C	T	6: 136,781,292 (GRCm39)	G29D	probably damaging	Het
Hacl1	C	A	14: 31,341,873 (GRCm39)	A311S	probably damaging	Het
Kat6b	G	A	14: 21,684,547 (GRCm39)	D611N	probably damaging	Het
Kifap3	T	C	1: 163,693,041 (GRCm39)	I611T	probably damaging	Het
Lrba	A	G	3: 86,226,911 (GRCm39)	Y683C	probably damaging	Het
Mfsd14a	T	C	3: 116,427,399 (GRCm39)	N413S	probably benign	Het
Mtmr11	T	A	3: 96,078,518 (GRCm39)	D691E	possibly damaging	Het
Mzf1	A	T	7: 12,787,116 (GRCm39)	F64I	probably benign	Het
Neu2	G	T	1: 87,524,478 (GRCm39)	Q154H	probably damaging	Het
Nid1	T	C	13: 13,663,742 (GRCm39)		probably null	Het
Nod1	C	A	6: 54,916,312 (GRCm39)	K128N	probably damaging	Het
Noxred1	T	A	12: 87,270,976 (GRCm39)	Q215L	possibly damaging	Het
Npr1	A	G	3: 90,366,800 (GRCm39)		probably benign	Het
Pdcd6	T	C	13: 74,452,133 (GRCm39)	D169G	probably damaging	Het
Pld3	G	T	7: 27,237,093 (GRCm39)	T262N	probably benign	Het
Plxna1	T	C	6: 89,299,704 (GRCm39)		probably benign	Het
Prh1	A	G	6: 132,549,174 (GRCm39)	Q227R	unknown	Het
Prtg	C	A	9: 72,716,999 (GRCm39)	Y113*	probably null	Het
Rbm27	T	A	18: 42,433,450 (GRCm39)	V242E	possibly damaging	Het
Ripor1	T	C	8: 106,342,636 (GRCm39)	L198P	probably damaging	Het
Rnpc3	T	C	3: 113,410,360 (GRCm39)		probably null	Het
Serpinf2	T	C	11: 75,324,065 (GRCm39)	T321A	probably benign	Het
Sh3gl1	T	C	17: 56,326,119 (GRCm39)	D129G	probably damaging	Het
Slc12a2	C	A	18: 58,077,068 (GRCm39)	P1189Q	probably damaging	Het
Slc16a9	T	C	10: 70,118,320 (GRCm39)	M213T	probably benign	Het
Spata31f3	A	T	4: 42,871,711 (GRCm39)	D221E	probably damaging	Het
Svil	G	A	18: 5,056,854 (GRCm39)		probably null	Het
Synpo	A	G	18: 60,737,118 (GRCm39)	L37P	probably damaging	Het
Tmprss9	A	G	10: 80,718,580 (GRCm39)	H87R	probably benign	Het
Tmtc1	A	T	6: 148,139,353 (GRCm39)	L885Q	probably damaging	Het
Ttc41	T	C	10: 86,586,128 (GRCm39)	S811P	possibly damaging	Het
Vmn2r23	T	C	6: 123,689,901 (GRCm39)	V259A	probably benign	Het
Wwox	T	A	8: 115,406,586 (GRCm39)	H192Q	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
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
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'- TGTCATACGCAGAGGTGAGC -3'
(R):5'- AAATCTTGGGCACGGTTTTC -3'

Sequencing Primer
(F):5'- GAGGTGAGCATAAAATATGTTGCATC -3'
(R):5'- TGGTTTTAAGGTAGAGGACAGAATG -3'

Posted On

2017-02-10