Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Nkpd1'

206570

Institutional Source

Beutler Lab

Gene Symbol

Nkpd1

Ensembl Gene

ENSMUSG00000060621

Gene Name

NTPase, KAP family P-loop domain containing 1

Synonyms

2310015G09Rik

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1823 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

19251763-19258981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19257177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 319 (V319M)

Ref Sequence

ENSEMBL: ENSMUSP00000147092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078908] [ENSMUST00000207576] [ENSMUST00000214205]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078908
AA Change: V319M

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

SMART Domains

Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: V319M

Domain	Start	End	E-Value	Type
low complexity region	71	103	N/A	INTRINSIC
low complexity region	129	158	N/A	INTRINSIC
Pfam:KAP_NTPase	186	642	5.7e-29	PFAM
low complexity region	771	780	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207576
AA Change: V319M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214205
AA Change: V169M

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

Meta Mutation Damage Score

0.1965

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,111,312 (GRCm39)	V868I	probably benign	Het
Ahnak	G	T	19: 8,982,269 (GRCm39)	M1184I	probably damaging	Het
Akap11	T	C	14: 78,748,928 (GRCm39)	E1153G	probably damaging	Het
Amy1	T	C	3: 113,356,376 (GRCm39)	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427 (GRCm39)	L129P	probably damaging	Het
Aox1	A	T	1: 58,351,518 (GRCm39)	T702S	probably benign	Het
Apobec1	G	T	6: 122,555,845 (GRCm39)	T204K	possibly damaging	Het
Arhgef19	A	G	4: 140,976,457 (GRCm39)	R433G	probably benign	Het
Atf6b	T	A	17: 34,867,618 (GRCm39)	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,694,826 (GRCm39)		probably null	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cbs	G	A	17: 31,843,245 (GRCm39)	H229Y	probably damaging	Het
Cct8	G	A	16: 87,287,442 (GRCm39)	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,293,993 (GRCm39)	A250T	probably damaging	Het
Chrd	A	G	16: 20,560,097 (GRCm39)		probably benign	Het
Ckap2l	A	G	2: 129,117,499 (GRCm39)	F559L	probably damaging	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,477 (GRCm39)	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,447,539 (GRCm39)	N557S	probably benign	Het
Dct	T	G	14: 118,273,935 (GRCm39)	N324T	probably benign	Het
Dip2a	A	T	10: 76,114,336 (GRCm39)	L999*	probably null	Het
Dock10	T	A	1: 80,520,814 (GRCm39)		probably null	Het
Dync2li1	A	T	17: 84,957,225 (GRCm39)	D330V	probably damaging	Het
Eif4g3	T	A	4: 137,907,802 (GRCm39)	D1267E	probably benign	Het
Enc1	A	G	13: 97,382,486 (GRCm39)	E332G	possibly damaging	Het
Fat2	C	T	11: 55,147,606 (GRCm39)	V3879I	probably benign	Het
Fh1	A	T	1: 175,444,114 (GRCm39)	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,255,328 (GRCm39)	L227P	probably damaging	Het
Fpr1	T	A	17: 18,097,315 (GRCm39)	M225L	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Grm7	A	G	6: 111,184,730 (GRCm39)	T354A	probably benign	Het
Ift27	T	A	15: 78,057,978 (GRCm39)	I9F	possibly damaging	Het
Igf1r	A	G	7: 67,844,729 (GRCm39)	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,243,028 (GRCm39)	L738Q	probably damaging	Het
Itgam	A	T	7: 127,663,904 (GRCm39)	T44S	probably benign	Het
Ivd	T	A	2: 118,692,515 (GRCm39)	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780 (GRCm39)	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,995,524 (GRCm39)	V251A	probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,715,923 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myocd	C	A	11: 65,069,496 (GRCm39)	M909I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or1af1	T	C	2: 37,110,344 (GRCm39)	V281A	probably damaging	Het
Or1p1c	C	T	11: 74,161,043 (GRCm39)	A276V	probably damaging	Het
Or2q1	G	T	6: 42,795,202 (GRCm39)	A266S	possibly damaging	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4c111	A	G	2: 88,843,722 (GRCm39)	S229P	probably benign	Het
Or5b101	C	A	19: 13,005,181 (GRCm39)	V171L	probably benign	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pcdhb9	A	G	18: 37,535,871 (GRCm39)	T622A	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,853,658 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,882,617 (GRCm39)	Y708C	probably damaging	Het
Pnp	T	C	14: 51,187,786 (GRCm39)	F107L	probably damaging	Het
Postn	T	A	3: 54,292,708 (GRCm39)		probably null	Het
Prcp	A	T	7: 92,577,883 (GRCm39)	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,454,177 (GRCm39)	I52F	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,241 (GRCm39)	I248N	probably damaging	Het
Ror2	T	G	13: 53,264,341 (GRCm39)	E917A	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sema6d	A	G	2: 124,501,476 (GRCm39)		probably null	Het
Shisal1	T	C	15: 84,290,669 (GRCm39)	T213A	probably benign	Het
Slc4a2	C	T	5: 24,632,618 (GRCm39)	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,888,901 (GRCm39)		noncoding transcript	Het
Slf2	A	T	19: 44,923,687 (GRCm39)	H167L	possibly damaging	Het
Snx9	G	T	17: 5,970,946 (GRCm39)	G429V	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Spta1	T	A	1: 174,074,115 (GRCm39)	D2351E	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,788,005 (GRCm39)	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,552,595 (GRCm39)	L163P	possibly damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Ucp1	C	T	8: 84,020,661 (GRCm39)	T157I	probably damaging	Het
Uspl1	T	A	5: 149,151,224 (GRCm39)	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,962,580 (GRCm39)	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,413,405 (GRCm39)	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 86,687,080 (GRCm39)	I820M	probably damaging	Het
Wscd1	C	A	11: 71,651,044 (GRCm39)	P124T	probably benign	Het
Zfp780b	A	T	7: 27,662,525 (GRCm39)	C677S	possibly damaging	Het

Other mutations in Nkpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Nkpd1	APN	7	19,252,674 (GRCm39)	missense	possibly damaging	0.71
IGL01140:Nkpd1	APN	7	19,257,387 (GRCm39)	missense	possibly damaging	0.72
IGL01450:Nkpd1	APN	7	19,257,550 (GRCm39)	missense	probably damaging	1.00
R0003:Nkpd1	UTSW	7	19,253,852 (GRCm39)	missense	probably benign
R0626:Nkpd1	UTSW	7	19,257,099 (GRCm39)	missense	probably benign	0.02
R1171:Nkpd1	UTSW	7	19,258,012 (GRCm39)	missense	possibly damaging	0.94
R1637:Nkpd1	UTSW	7	19,257,904 (GRCm39)	missense	probably benign	0.00
R1722:Nkpd1	UTSW	7	19,257,846 (GRCm39)	missense	possibly damaging	0.84
R2141:Nkpd1	UTSW	7	19,258,162 (GRCm39)	missense	probably damaging	0.99
R2224:Nkpd1	UTSW	7	19,253,745 (GRCm39)	missense	probably benign	0.00
R2225:Nkpd1	UTSW	7	19,253,745 (GRCm39)	missense	probably benign	0.00
R2226:Nkpd1	UTSW	7	19,253,745 (GRCm39)	missense	probably benign	0.00
R2274:Nkpd1	UTSW	7	19,257,822 (GRCm39)	missense	probably benign	0.01
R2275:Nkpd1	UTSW	7	19,257,822 (GRCm39)	missense	probably benign	0.01
R2374:Nkpd1	UTSW	7	19,257,900 (GRCm39)	missense	possibly damaging	0.50
R3108:Nkpd1	UTSW	7	19,256,903 (GRCm39)	missense	probably damaging	0.98
R4940:Nkpd1	UTSW	7	19,257,498 (GRCm39)	nonsense	probably null
R5182:Nkpd1	UTSW	7	19,257,181 (GRCm39)	missense	probably damaging	1.00
R5362:Nkpd1	UTSW	7	19,257,193 (GRCm39)	missense	probably damaging	1.00
R5458:Nkpd1	UTSW	7	19,258,201 (GRCm39)	missense	probably damaging	1.00
R5681:Nkpd1	UTSW	7	19,257,498 (GRCm39)	nonsense	probably null
R5684:Nkpd1	UTSW	7	19,257,498 (GRCm39)	nonsense	probably null
R5685:Nkpd1	UTSW	7	19,257,498 (GRCm39)	nonsense	probably null
R6177:Nkpd1	UTSW	7	19,257,009 (GRCm39)	missense	probably damaging	1.00
R6200:Nkpd1	UTSW	7	19,258,528 (GRCm39)	missense	possibly damaging	0.55
R7348:Nkpd1	UTSW	7	19,258,341 (GRCm39)	missense	probably damaging	0.99
R7356:Nkpd1	UTSW	7	19,257,699 (GRCm39)	missense	probably damaging	1.00
R8239:Nkpd1	UTSW	7	19,253,753 (GRCm39)	missense	probably benign
R8791:Nkpd1	UTSW	7	19,258,095 (GRCm39)	missense	probably benign	0.08
R8936:Nkpd1	UTSW	7	19,255,875 (GRCm39)	missense	probably damaging	0.98
R9200:Nkpd1	UTSW	7	19,257,683 (GRCm39)	missense	probably benign	0.35
R9213:Nkpd1	UTSW	7	19,258,009 (GRCm39)	missense	probably damaging	1.00
R9601:Nkpd1	UTSW	7	19,257,462 (GRCm39)	missense	probably damaging	1.00
R9609:Nkpd1	UTSW	7	19,257,462 (GRCm39)	missense	possibly damaging	0.68
R9622:Nkpd1	UTSW	7	19,257,867 (GRCm39)	missense	probably benign	0.00
Z1177:Nkpd1	UTSW	7	19,257,877 (GRCm39)	missense	probably damaging	1.00
Z1177:Nkpd1	UTSW	7	19,257,702 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTGCAGCCCGTGATCAC -3'
(R):5'- ACGAACAGATGCTTGCCCAC -3'

Sequencing Primer
(F):5'- TGATCACGGAGCTGCACCTG -3'
(R):5'- AGATGCTTGCCCACGGAGTAC -3'

Posted On

2014-06-23