Mutagenetix > Incidental Mutation

Incidental Mutation 'R2274:Nkpd1'

244964

Institutional Source

Beutler Lab

Gene Symbol

Nkpd1

Ensembl Gene

ENSMUSG00000060621

Gene Name

NTPase, KAP family P-loop domain containing 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19517838-19525056 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19523897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 534 (I534V)

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 benign
Transcript: ENSMUST00000078908
AA Change: I534V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: I534V

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 benign
Transcript: ENSMUST00000207576
AA Change: I534V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000214205
AA Change: I384V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Abcb10	G	T	8: 123,982,752	A21E	probably benign	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Adamtsl3	A	T	7: 82,606,558	S1593C	probably benign	Het
Ank3	T	A	10: 69,950,942		probably null	Het
Aqp4	A	G	18: 15,393,480	S315P	probably benign	Het
Atp7b	T	C	8: 22,020,832	I433V	probably benign	Het
Bco1	G	A	8: 117,108,783		probably null	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,157,547	Q73L	probably damaging	Het
Car5a	C	T	8: 121,944,669		probably null	Het
Cdk11b	T	A	4: 155,647,594		probably benign	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
D7Ertd443e	A	G	7: 134,270,201	S644P	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
Egr4	A	T	6: 85,512,743	F112I	probably damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Fat4	T	A	3: 38,995,899	V3970D	possibly damaging	Het
Fbxw5	C	A	2: 25,504,761	C222*	probably null	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Ghr	A	G	15: 3,320,025	V557A	probably benign	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gpatch1	A	T	7: 35,288,678	S678T	probably benign	Het
Gpr155	A	G	2: 73,348,135		probably null	Het
Gucy2f	A	T	X: 142,116,273	M697K	probably benign	Het
Hecw1	T	C	13: 14,346,068	T195A	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Irf8	A	G	8: 120,753,527	E168G	probably damaging	Het
Kcnh1	T	G	1: 192,337,521	V358G	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
L3hypdh	T	C	12: 72,084,858	Y100C	possibly damaging	Het
Map4k1	T	A	7: 29,001,957	H729Q	probably damaging	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mier2	T	C	10: 79,544,534	I321V	probably damaging	Het
Mta1	C	T	12: 113,128,150	S291L	probably damaging	Het
Myh2	A	G	11: 67,190,358	K1267E	possibly damaging	Het
Nbea	A	T	3: 55,988,085		probably null	Het
Nexmif	T	G	X: 104,087,846	E155A	possibly damaging	Het
Nxph1	G	T	6: 9,247,746	C239F	probably damaging	Het
Odc1	A	G	12: 17,548,424	I189V	probably benign	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Olfr314	T	C	11: 58,786,666	V144A	probably benign	Het
Olfr351	A	T	2: 36,860,101	N82K	probably damaging	Het
Olfr781	T	C	10: 129,333,457	I192T	probably benign	Het
Pcdhb15	T	C	18: 37,475,443	L576P	probably damaging	Het
Raph1	T	C	1: 60,498,500	D499G	probably damaging	Het
Rptor	T	A	11: 119,756,322	C246*	probably null	Het
Rtl1	T	C	12: 109,594,667	E246G	unknown	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Slc4a8	A	G	15: 100,807,402	M830V	probably benign	Het
Sned1	T	A	1: 93,281,642		probably null	Het
St3gal6	T	A	16: 58,488,969	E34D	possibly damaging	Het
Tcstv3	C	T	13: 120,317,654	Q30*	probably null	Het
Tex16	T	A	X: 112,121,141	D1112E	probably damaging	Het
Tmcc3	G	A	10: 94,578,915	V160I	probably damaging	Het
Tmf1	T	A	6: 97,163,586	L776F	probably damaging	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn1r49	G	A	6: 90,072,144	T292I	probably benign	Het
Wdr19	T	A	5: 65,240,991	M853K	possibly damaging	Het
Zkscan8	C	T	13: 21,521,796	M265I	probably benign	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
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
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'- ATCAACACTCTGCTGTCCG -3'
(R):5'- AATCACCCTCGTCATGCAGG -3'

Sequencing Primer
(F):5'- GACAGCCACGCTCCCTTC -3'
(R):5'- ACAGCGCCTCCTGGATAC -3'

Posted On

2014-10-30