Mutagenetix > Incidental Mutation

Incidental Mutation 'R4889:Npat'

377200

Institutional Source

Beutler Lab

Gene Symbol

Npat

Ensembl Gene

ENSMUSG00000033054

Gene Name

nuclear protein in the AT region

Synonyms

MMRRC Submission

042494-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53448347-53485642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53473507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 433 (I433T)

Ref Sequence

ENSEMBL: ENSMUSP00000048709 (fasta)

Gene Model

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

AlphaFold

Q8BMA5

Predicted Effect

probably benign
Transcript: ENSMUST00000035850
AA Change: I433T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: I433T

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	G	C	10: 67,384,135 (GRCm39)	R157G	probably benign	Het
Akap12	C	A	10: 4,306,535 (GRCm39)	A1115E	probably damaging	Het
Ankhd1	A	G	18: 36,711,787 (GRCm39)	M196V	probably null	Het
Appl2	G	A	10: 83,476,922 (GRCm39)	T34I	probably damaging	Het
Arhgap21	T	C	2: 20,885,279 (GRCm39)	S472G	probably benign	Het
Asmt	G	T	X: 169,110,764 (GRCm39)	R250L	possibly damaging	Het
Baz2b	A	T	2: 59,767,070 (GRCm39)	I870N	probably damaging	Het
Card11	T	C	5: 140,871,700 (GRCm39)	Q667R	possibly damaging	Het
Cercam	A	G	2: 29,771,845 (GRCm39)	D555G	probably damaging	Het
Cop1	A	T	1: 159,112,159 (GRCm39)	R284S	probably damaging	Het
Cr2	A	G	1: 194,858,893 (GRCm39)	V9A	possibly damaging	Het
Ctsm	A	G	13: 61,686,215 (GRCm39)	F106S	probably damaging	Het
Dhx9	A	T	1: 153,356,895 (GRCm39)	L118Q	probably damaging	Het
Dnah5	G	T	15: 28,235,938 (GRCm39)	C355F	probably benign	Het
Dock1	C	A	7: 134,346,705 (GRCm39)	N212K	probably benign	Het
Efemp2	T	A	19: 5,525,148 (GRCm39)	L18Q	probably null	Het
Flvcr1	A	G	1: 190,757,764 (GRCm39)	L176P	probably damaging	Het
Gm16505	A	T	13: 3,411,125 (GRCm39)		noncoding transcript	Het
Gm6457	A	T	18: 14,703,501 (GRCm39)		noncoding transcript	Het
Gnptab	A	G	10: 88,269,775 (GRCm39)	N826S	probably benign	Het
Hdc	T	G	2: 126,436,053 (GRCm39)	N606T	probably benign	Het
Itga3	T	C	11: 94,959,127 (GRCm39)	D113G	probably benign	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Mkrn1	A	T	6: 39,396,939 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,723,238 (GRCm39)	V720A	probably damaging	Het
Nkx3-1	G	A	14: 69,428,447 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10ag53	A	T	2: 87,082,991 (GRCm39)	I237F	probably damaging	Het
Or1l4	A	G	2: 37,092,057 (GRCm39)	Y268C	probably damaging	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Pde6c	T	A	19: 38,121,599 (GRCm39)	M69K	probably benign	Het
Pde7b	T	C	10: 20,423,823 (GRCm39)	T18A	probably benign	Het
Plcz1	T	C	6: 139,953,474 (GRCm39)	K381R	probably benign	Het
Ppfia4	A	C	1: 134,228,252 (GRCm39)	F1095V	probably damaging	Het
Sfxn3	T	C	19: 45,038,254 (GRCm39)	F78S	probably damaging	Het
Sim1	A	T	10: 50,857,420 (GRCm39)	Y390F	probably benign	Het
Slc25a31	A	G	3: 40,675,975 (GRCm39)	I174V	probably benign	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco1b2	T	G	6: 141,602,469 (GRCm39)		probably benign	Het
Smarca5	C	A	8: 81,431,326 (GRCm39)	D964Y	possibly damaging	Het
Sptbn2	T	A	19: 4,779,458 (GRCm39)	S338R	possibly damaging	Het
Srcap	T	C	7: 127,137,719 (GRCm39)	V1023A	possibly damaging	Het
Syt16	A	G	12: 74,176,269 (GRCm39)	E46G	probably damaging	Het
Tas2r114	A	T	6: 131,666,758 (GRCm39)	I90K	probably damaging	Het
Tlx1	G	T	19: 45,139,418 (GRCm39)	D22Y	probably damaging	Het
Vamp8	G	A	6: 72,362,522 (GRCm39)	L93F	possibly damaging	Het
Vill	T	C	9: 118,892,409 (GRCm39)	S347P	possibly damaging	Het
Zfp974	A	G	7: 27,610,244 (GRCm39)	Y494H	possibly 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
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'- CCATCACACTGGTGTTTTACAG -3'
(R):5'- GGCTGATCAGGCTGATACTGAG -3'

Sequencing Primer
(F):5'- CATCACACTGGTGTTTTACAGATGGG -3'
(R):5'- CAGGCTGATACTGAGATTGACTC -3'

Posted On

2016-03-17