Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Nkpd1'

263658

Institutional Source

Beutler Lab

Gene Symbol

Nkpd1

Ensembl Gene

ENSMUSG00000060621

Gene Name

NTPase, KAP family P-loop domain containing 1

Synonyms

MMRRC Submission

040582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3108 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

19517838-19525056 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19522978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 227 (M227I)

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: M227I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: M227I

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: M227I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214205
AA Change: M77I

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.6712

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,323,585	S104L	probably benign	Het
Adcy1	A	G	11: 7,169,453	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 127,056,306		probably null	Het
Ccnb1	C	T	13: 100,781,624		probably null	Het
Cfap54	T	C	10: 92,994,683	N1197S	probably benign	Het
Cnot1	A	G	8: 95,735,749	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,912,387	K1760R	probably benign	Het
Drd4	T	A	7: 141,292,282	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,021,816	V323M	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	G	A	8: 45,045,173		probably null	Het
Igkv11-125	T	C	6: 67,913,871	F58L	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,328	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,858,759	T1814M	unknown	Het
Ntrk3	C	T	7: 78,460,515	V324M	probably benign	Het
Nup155	C	A	15: 8,117,306	T210K	probably null	Het
Olfr466	T	C	13: 65,153,061	V279A	possibly damaging	Het
Olfr591	T	A	7: 103,173,086	M184L	probably damaging	Het
Pak4	A	T	7: 28,564,344	Y322*	probably null	Het
Raph1	G	A	1: 60,493,386	A696V	probably benign	Het
Satb1	A	T	17: 51,782,782	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,853,841	I382N	probably damaging	Het
Slc34a3	G	T	2: 25,229,245	Q538K	probably benign	Het
Slf1	C	T	13: 77,126,721		probably benign	Het
Ston1	G	T	17: 88,636,155	E330*	probably null	Het
Trhde	C	T	10: 114,592,066	E442K	probably damaging	Het
Unc45a	A	G	7: 80,331,546		probably benign	Het
Zfp169	A	G	13: 48,489,996	S552P	possibly damaging	Het
Zfp229	T	A	17: 21,746,816	C676S	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
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
R9601:Nkpd1	UTSW	7	19523537	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'- ATTTCATTCATTCCTGGAGTGGC -3'
(R):5'- GAACAGGAAGCGCACATTC -3'

Sequencing Primer
(F):5'- TTCCTGGAGTGGCCACAACTTAAG -3'
(R):5'- GCACATTCCTGCGCCGC -3'

Posted On

2015-02-05