Mutagenetix > Incidental Mutation

Incidental Mutation 'R9213:Nkpd1'

698997

Institutional Source

Beutler Lab

Gene Symbol

Nkpd1

Ensembl Gene

ENSMUSG00000060621

Gene Name

NTPase, KAP family P-loop domain containing 1

Synonyms

2310015G09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19251763-19258981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19258009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 596 (D596G)

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: D596G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: D596G

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: D596G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000214205
AA Change: D446G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	A	13: 104,581,440 (GRCm39)	C852S	probably damaging	Het
Arf1	A	G	11: 59,104,186 (GRCm39)	V43A	probably damaging	Het
Arhgef26	T	A	3: 62,340,000 (GRCm39)	M674K	probably benign	Het
Asb1	A	C	1: 91,482,531 (GRCm39)	K314N	probably damaging	Het
Aste1	T	C	9: 105,274,294 (GRCm39)	F178S	probably damaging	Het
Avl9	T	C	6: 56,720,441 (GRCm39)	F493S	probably damaging	Het
BC024139	T	C	15: 76,009,422 (GRCm39)	Y220C	probably benign	Het
Ccdc60	T	C	5: 116,328,185 (GRCm39)	E93G	probably damaging	Het
Cep112	A	G	11: 108,377,779 (GRCm39)	H295R	probably benign	Het
Chd3	T	C	11: 69,255,628 (GRCm39)	K87E	possibly damaging	Het
Chordc1	G	T	9: 18,223,789 (GRCm39)		probably null	Het
Ciita	A	T	16: 10,319,742 (GRCm39)	D55V	probably damaging	Het
Cklf	T	C	8: 104,988,125 (GRCm39)	V86A	probably damaging	Het
Clock	T	A	5: 76,393,376 (GRCm39)	N189I	possibly damaging	Het
Dnah14	T	C	1: 181,444,205 (GRCm39)		probably null	Het
Dpep3	C	G	8: 106,700,245 (GRCm39)	C487S	probably benign	Het
Dtwd2	A	G	18: 49,856,799 (GRCm39)	F163L	probably benign	Het
Eln	C	T	5: 134,735,456 (GRCm39)	V776M	unknown	Het
Fanci	T	A	7: 79,055,971 (GRCm39)	M201K	possibly damaging	Het
Frmd4a	A	G	2: 4,608,372 (GRCm39)	T747A	probably damaging	Het
Galnt9	T	A	5: 110,767,108 (GRCm39)	C526*	probably null	Het
Garnl3	T	C	2: 32,895,080 (GRCm39)	E663G	probably damaging	Het
Gdpd5	T	C	7: 99,100,945 (GRCm39)	S247P	probably damaging	Het
Gm4846	C	T	1: 166,322,142 (GRCm39)	D142N	probably damaging	Het
Kbtbd2	T	A	6: 56,756,917 (GRCm39)	E273V	probably damaging	Het
Klk1b11	A	G	7: 43,648,428 (GRCm39)	E145G	possibly damaging	Het
Mmp1a	G	T	9: 7,475,364 (GRCm39)	V378F	possibly damaging	Het
Mon2	G	T	10: 122,872,016 (GRCm39)	S336*	probably null	Het
Mrgprh	T	A	17: 13,095,917 (GRCm39)	N52K	probably damaging	Het
Myo9a	T	C	9: 59,772,922 (GRCm39)	F985L	probably benign	Het
Nek3	T	C	8: 22,638,677 (GRCm39)	N207S	probably benign	Het
Oc90	C	A	15: 65,761,557 (GRCm39)	E154*	probably null	Het
Or8b101	T	A	9: 38,020,426 (GRCm39)	M143K	possibly damaging	Het
Or8b3	C	A	9: 38,315,047 (GRCm39)	Y292*	probably null	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,358,874 (GRCm39)	Y361C	probably damaging	Het
Polr2h	T	C	16: 20,539,285 (GRCm39)	Y90H	possibly damaging	Het
Potefam1	T	A	2: 111,020,699 (GRCm39)	R136S	unknown	Het
Ppp1r26	A	G	2: 28,343,649 (GRCm39)	N1093S	probably benign	Het
Prex1	G	T	2: 166,417,669 (GRCm39)	R1313S	probably damaging	Het
Ptprh	A	T	7: 4,583,911 (GRCm39)	V227E	probably damaging	Het
Pycr2	A	G	1: 180,733,473 (GRCm39)	D58G	probably benign	Het
Rad54b	G	T	4: 11,609,321 (GRCm39)	E591*	probably null	Het
Rptor	T	C	11: 119,494,765 (GRCm39)	S44P	probably benign	Het
Safb2	T	A	17: 56,882,602 (GRCm39)	T344S	probably benign	Het
Samd9l	T	C	6: 3,376,856 (GRCm39)	E135G	probably benign	Het
Sec23a	A	T	12: 59,048,708 (GRCm39)	I167N	probably damaging	Het
Shoc2	C	T	19: 54,016,231 (GRCm39)	T415I	probably benign	Het
Sobp	T	C	10: 42,898,374 (GRCm39)	I404V	probably benign	Het
Ssbp4	G	T	8: 71,052,395 (GRCm39)	L147I	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Syt14	A	G	1: 192,612,814 (GRCm39)	V379A	probably damaging	Het
Tat	T	G	8: 110,722,820 (GRCm39)	I294S	probably damaging	Het
Tcf19	A	G	17: 35,825,899 (GRCm39)	V86A	probably damaging	Het
Tfap2a	T	A	13: 40,870,875 (GRCm39)	I338F	possibly damaging	Het
Tmco6	C	A	18: 36,872,384 (GRCm39)	N365K	probably damaging	Het
Tmub2	G	A	11: 102,178,475 (GRCm39)	R164K		Het
Togaram1	A	G	12: 65,065,906 (GRCm39)	I1637V	possibly damaging	Het
Wdr49	A	C	3: 75,205,419 (GRCm39)	S666A	probably benign	Het
Ybx1	T	A	4: 119,138,794 (GRCm39)	Y236F	possibly damaging	Het
Zfhx3	T	A	8: 109,676,756 (GRCm39)	I2602N	probably benign	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
R1823:Nkpd1	UTSW	7	19,257,177 (GRCm39)	missense	probably damaging	1.00
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
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'- TCGCACCAAGTTGCAGTTCC -3'
(R):5'- TCGCAGAAGACATCCCAGAG -3'

Sequencing Primer
(F):5'- TCCGGGAATTGACGATCA -3'
(R):5'- ACAAGGCCACTGGTTAGC -3'

Posted On

2022-02-07