Mutagenetix > Incidental Mutation

Incidental Mutation 'R9601:Nkpd1'

726349

Institutional Source

Beutler Lab

Gene Symbol

Nkpd1

Ensembl Gene

ENSMUSG00000060621

Gene Name

NTPase, KAP family P-loop domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9601 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19517838-19525056 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19523537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 414 (I414F)

Ref Sequence

ENSEMBL: ENSMUSP00000077943 (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: I414F

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

SMART Domains

Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: I414F

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: I414F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214205
AA Change: I264F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,154,380	V1590I	possibly damaging	Het
Abhd6	T	C	14: 8,049,808	L246S	possibly damaging	Het
Arhgap22	C	A	14: 33,298,770	H107N	probably damaging	Het
Atp6v0a2	G	A	5: 124,713,193	G480D	probably damaging	Het
Baz2b	T	C	2: 59,901,503	T2064A	possibly damaging	Het
Bop1	T	A	15: 76,454,488	N449I	probably benign	Het
C8g	C	T	2: 25,498,904		probably null	Het
Camp	T	G	9: 109,848,436	T110P		Het
Ccdc141	T	C	2: 77,054,729	T523A	possibly damaging	Het
Ccdc157	A	T	11: 4,144,598	I578N	probably damaging	Het
Ccdc187	C	T	2: 26,253,433	A1298T	possibly damaging	Het
Cdc20	C	T	4: 118,433,519	W428*	probably null	Het
Chd9	A	T	8: 91,005,732	R1293*	probably null	Het
Clca3a1	C	T	3: 144,747,549	G505S	probably benign	Het
Clptm1	C	A	7: 19,635,838	W382C	probably damaging	Het
Cnot1	A	T	8: 95,756,207	N739K	probably benign	Het
Cntnap5a	T	C	1: 116,580,487	I1243T	probably damaging	Het
Col12a1	T	G	9: 79,617,752	D2709A	probably damaging	Het
Cpm	T	C	10: 117,676,094		probably null	Het
Ctsd	C	A	7: 142,382,636	G143C	probably damaging	Het
Cux2	A	G	5: 121,887,398	V69A	possibly damaging	Het
Cyp2c66	A	T	19: 39,186,610	I485L	probably benign	Het
Cyp4a29	T	C	4: 115,248,575	V158A	probably damaging	Het
D430042O09Rik	A	G	7: 125,842,920	Q693R	probably benign	Het
Dbx1	A	T	7: 49,632,655	D267E	probably damaging	Het
Dopey2	A	G	16: 93,747,643	Y224C	possibly damaging	Het
Dsg3	T	A	18: 20,533,521	C596S	probably damaging	Het
Fgd2	G	A	17: 29,374,886	V456I	probably benign	Het
Gabra1	A	T	11: 42,135,574	I297N	probably damaging	Het
Gm4737	A	G	16: 46,154,672	I114T	probably benign	Het
Grid1	A	G	14: 35,445,857	E446G	probably damaging	Het
Hist1h2bk	T	C	13: 22,036,223	S113P	probably benign	Het
Hmmr	A	T	11: 40,707,383	Y667*	probably null	Het
Klhl25	A	G	7: 75,866,009	D221G	probably damaging	Het
Krtcap2	T	C	3: 89,249,142		probably null	Het
Lipi	T	A	16: 75,555,818	N377I	possibly damaging	Het
Lrp2	C	A	2: 69,459,584	C3637F	probably damaging	Het
Mrgprh	T	C	17: 12,877,377	F168S	possibly damaging	Het
Naip6	T	C	13: 100,300,453	T521A	probably benign	Het
Olfr1185-ps1	T	A	2: 88,499,970	M295K	probably damaging	Het
Olfr618	A	T	7: 103,597,391	D25V	probably benign	Het
Pcdhb21	A	T	18: 37,515,332	I505F	probably damaging	Het
Plxna1	C	T	6: 89,331,271	R1278Q	probably damaging	Het
Pofut2	T	C	10: 77,259,386	S22P	possibly damaging	Het
Prrc2b	C	A	2: 32,200,941	R442S	probably damaging	Het
Sema3e	T	A	5: 14,252,383	F641I	possibly damaging	Het
Sfswap	G	A	5: 129,541,399	V466I	possibly damaging	Het
Slc22a21	A	T	11: 53,959,225	V268E	possibly damaging	Het
Slc6a17	T	C	3: 107,473,614	D525G	possibly damaging	Het
Spata21	C	T	4: 141,095,156	T91I	possibly damaging	Het
Spryd7	T	G	14: 61,545,779	H98P	probably benign	Het
Sptb	G	T	12: 76,620,989	T778K	probably damaging	Het
Syne1	C	T	10: 5,259,270	R3411Q	probably benign	Het
Trank1	A	G	9: 111,373,125	I1607V	probably benign	Het
Ttll1	T	C	15: 83,496,315	D283G	probably benign	Het
Ufl1	G	A	4: 25,275,807	R199W	probably benign	Het
Vmn1r159	A	G	7: 22,843,191	S139P	probably damaging	Het
Vmn2r97	A	G	17: 18,914,508	I63V	probably benign	Het
Vps13a	T	C	19: 16,645,973	S2775G	possibly damaging	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	Het

Other mutations in Nkpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Nkpd1	APN	7	19518749	missense	possibly damaging	0.71
IGL01140:Nkpd1	APN	7	19523462	missense	possibly damaging	0.72
IGL01450:Nkpd1	APN	7	19523625	missense	probably damaging	1.00
R0003:Nkpd1	UTSW	7	19519927	missense	probably benign
R0626:Nkpd1	UTSW	7	19523174	missense	probably benign	0.02
R1171:Nkpd1	UTSW	7	19524087	missense	possibly damaging	0.94
R1637:Nkpd1	UTSW	7	19523979	missense	probably benign	0.00
R1722:Nkpd1	UTSW	7	19523921	missense	possibly damaging	0.84
R1823:Nkpd1	UTSW	7	19523252	missense	probably damaging	1.00
R2141:Nkpd1	UTSW	7	19524237	missense	probably damaging	0.99
R2224:Nkpd1	UTSW	7	19519820	missense	probably benign	0.00
R2225:Nkpd1	UTSW	7	19519820	missense	probably benign	0.00
R2226:Nkpd1	UTSW	7	19519820	missense	probably benign	0.00
R2274:Nkpd1	UTSW	7	19523897	missense	probably benign	0.01
R2275:Nkpd1	UTSW	7	19523897	missense	probably benign	0.01
R2374:Nkpd1	UTSW	7	19523975	missense	possibly damaging	0.50
R3108:Nkpd1	UTSW	7	19522978	missense	probably damaging	0.98
R4940:Nkpd1	UTSW	7	19523573	nonsense	probably null
R5182:Nkpd1	UTSW	7	19523256	missense	probably damaging	1.00
R5362:Nkpd1	UTSW	7	19523268	missense	probably damaging	1.00
R5458:Nkpd1	UTSW	7	19524276	missense	probably damaging	1.00
R5681:Nkpd1	UTSW	7	19523573	nonsense	probably null
R5684:Nkpd1	UTSW	7	19523573	nonsense	probably null
R5685:Nkpd1	UTSW	7	19523573	nonsense	probably null
R6177:Nkpd1	UTSW	7	19523084	missense	probably damaging	1.00
R6200:Nkpd1	UTSW	7	19524603	missense	possibly damaging	0.55
R7348:Nkpd1	UTSW	7	19524416	missense	probably damaging	0.99
R7356:Nkpd1	UTSW	7	19523774	missense	probably damaging	1.00
R8239:Nkpd1	UTSW	7	19519828	missense	probably benign
R8791:Nkpd1	UTSW	7	19524170	missense	probably benign	0.08
R8936:Nkpd1	UTSW	7	19521950	missense	probably damaging	0.98
R9200:Nkpd1	UTSW	7	19523758	missense	probably benign	0.35
R9213:Nkpd1	UTSW	7	19524084	missense	probably damaging	1.00
R9609:Nkpd1	UTSW	7	19523537	missense	possibly damaging	0.68
R9622:Nkpd1	UTSW	7	19523942	missense	probably benign	0.00
Z1177:Nkpd1	UTSW	7	19523777	missense	probably damaging	1.00
Z1177:Nkpd1	UTSW	7	19523952	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACTCGGTGCTAGGCAAC -3'
(R):5'- CGGACAGCAGAGTGTTGATG -3'

Sequencing Primer
(F):5'- GCCTCTGCCAACGCGAG -3'
(R):5'- TTTAGGACGCCCACCACG -3'

Posted On

2022-10-06