Mutagenetix > Incidental Mutation

Incidental Mutation 'R5762:Ngp'

446065

Institutional Source

Beutler Lab

Gene Symbol

Ngp

Ensembl Gene

ENSMUSG00000032484

Gene Name

neutrophilic granule protein

Synonyms

myeloid granule protein, bectenecin, clone B6

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110419747-110423012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110422333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 143 (D143V)

Ref Sequence

ENSEMBL: ENSMUSP00000035061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035061] [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]

AlphaFold

O08692

Predicted Effect

probably benign
Transcript: ENSMUST00000035061
AA Change: D143V

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000035061
Gene: ENSMUSG00000032484
AA Change: D143V

Domain	Start	End	E-Value	Type
CY	10	116	7.92e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068025

SMART Domains

Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	336	1.78e-14	SMART
Kelch	337	383	2.64e-17	SMART
Kelch	384	430	2.18e-18	SMART
Kelch	431	477	9.27e-13	SMART
Kelch	478	524	3.34e-5	SMART
Kelch	525	571	1.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197336

Predicted Effect

probably benign
Transcript: ENSMUST00000198164

SMART Domains

Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	341	8.52e-12	SMART
Kelch	342	388	2.64e-17	SMART
Kelch	389	435	2.18e-18	SMART
Kelch	436	482	9.27e-13	SMART
Kelch	483	529	3.34e-5	SMART
Kelch	530	576	1.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198400

SMART Domains

Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	2.1e-15	PFAM
BACK	75	177	1.67e-39	SMART
Kelch	224	271	1.78e-14	SMART
Kelch	272	318	2.64e-17	SMART
Kelch	319	365	2.18e-18	SMART
Kelch	366	412	9.27e-13	SMART
Kelch	413	459	3.34e-5	SMART
Kelch	460	506	1.22e-12	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,896,598	D148E	probably benign	Het
Abca13	A	G	11: 9,581,665	I4631V	probably damaging	Het
Adamts16	A	T	13: 70,738,498	W1058R	probably damaging	Het
Adgrf5	A	G	17: 43,430,695	I163V	probably null	Het
Ano1	T	A	7: 144,648,037	Y338F	probably damaging	Het
Atp4a	A	G	7: 30,719,096	D603G	probably damaging	Het
B020031M17Rik	T	A	13: 119,949,965	Q35L	probably benign	Het
Bmp2k	GGCCCGC	GGC	5: 97,087,191		probably null	Het
Brinp2	T	C	1: 158,246,586	D655G	probably benign	Het
C3ar1	A	G	6: 122,850,362	S299P	probably benign	Het
Calhm1	T	A	19: 47,143,619		probably null	Het
Ccdc187	G	A	2: 26,276,092	P775L	possibly damaging	Het
Cd27	A	G	6: 125,236,598	F48S	probably damaging	Het
Cfap52	A	G	11: 67,954,121	Y41H	possibly damaging	Het
Cntn5	A	G	9: 9,748,389	S701P	possibly damaging	Het
Ctbp2	G	T	7: 132,995,359	A665D	probably damaging	Het
Ctsd	C	A	7: 142,383,529	G81C	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dpysl4	C	T	7: 139,091,937	A67V	probably benign	Het
Dst	C	T	1: 34,179,357	T1626I	probably damaging	Het
Etfdh	A	C	3: 79,615,954	D217E	probably null	Het
Far1	T	A	7: 113,568,189	Y494N	probably damaging	Het
Fndc1	G	A	17: 7,771,534	T1110M	unknown	Het
Frmd4a	G	T	2: 4,484,065	D78Y	probably damaging	Het
Fsip2	G	A	2: 82,977,916	M1526I	probably benign	Het
Ggn	C	T	7: 29,172,352	P399S	probably damaging	Het
Hap1	A	G	11: 100,355,774	W102R	probably damaging	Het
Herc2	T	A	7: 56,197,190	S3629R	possibly damaging	Het
Hist1h2ac	C	T	13: 23,683,905	G5S	probably damaging	Het
Hyal4	A	C	6: 24,765,862	Y405S	possibly damaging	Het
Ifi204	G	A	1: 173,752,759	T395I	probably damaging	Het
Igsf9	A	G	1: 172,498,438	E1147G	probably damaging	Het
Inpp5a	T	A	7: 139,538,181	I225N	possibly damaging	Het
Kcnv1	T	C	15: 45,109,122	K455R	probably damaging	Het
Kmt2c	T	C	5: 25,310,457	D2796G	probably benign	Het
Nlrp5	T	C	7: 23,418,839	C663R	possibly damaging	Het
Nup205	G	T	6: 35,227,680	R1469L	probably damaging	Het
Nup205	T	A	6: 35,230,548	F1512I	probably damaging	Het
Nwd1	T	C	8: 72,670,914	S594P	probably damaging	Het
Nxpe2	A	C	9: 48,319,575	V498G	probably benign	Het
P3h4	G	A	11: 100,411,851	R320C	probably damaging	Het
Plec	A	G	15: 76,179,255	L2273P	probably damaging	Het
Ppp1r14b	C	T	19: 6,976,583	L100F	probably damaging	Het
Prlhr	C	T	19: 60,467,068	W353*	probably null	Het
Ralgps2	C	T	1: 156,832,664		probably null	Het
Rrp12	C	T	19: 41,880,152	G584D	possibly damaging	Het
Scamp3	T	C	3: 89,181,197	F237L	probably damaging	Het
Scn10a	A	G	9: 119,635,441		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shroom1	A	T	11: 53,463,991	D246V	probably benign	Het
Snapc4	T	A	2: 26,378,606	E14D	probably damaging	Het
Spag5	A	T	11: 78,304,146	Q93L	probably benign	Het
Tle1	C	T	4: 72,120,135		probably null	Het
Ttll10	G	A	4: 156,034,981	P683S	possibly damaging	Het
Unc13c	A	C	9: 73,812,367	D1006E	probably benign	Het
Unc80	A	T	1: 66,693,796	K3101N	possibly damaging	Het
Vdac1	A	G	11: 52,387,453	Y247C	possibly damaging	Het
Vmn2r1	G	A	3: 64,090,053	V377I	probably benign	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Xrcc3	C	T	12: 111,804,610	R295Q	probably damaging	Het
Zfp780b	T	C	7: 27,964,818	N104S	probably benign	Het
Zkscan17	A	G	11: 59,487,571	V262A	possibly damaging	Het

Other mutations in Ngp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Ngp	UTSW	9	110422269	unclassified	probably benign
R0230:Ngp	UTSW	9	110420001	missense	probably damaging	1.00
R2004:Ngp	UTSW	9	110420861	missense	probably damaging	1.00
R4610:Ngp	UTSW	9	110420815	missense	possibly damaging	0.92
R5100:Ngp	UTSW	9	110420001	missense	probably damaging	1.00
R6514:Ngp	UTSW	9	110419949	missense	probably damaging	0.98
R6791:Ngp	UTSW	9	110419949	missense	probably benign	0.01
R7286:Ngp	UTSW	9	110420910	missense	probably benign	0.00
R7500:Ngp	UTSW	9	110419765	splice site	probably null
R7820:Ngp	UTSW	9	110420864	missense	probably benign	0.04
R8119:Ngp	UTSW	9	110422353	missense	probably benign	0.00
R9025:Ngp	UTSW	9	110422383	missense	possibly damaging	0.92
RF021:Ngp	UTSW	9	110421756	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ATTCAGATCTGCTCAAGCCCTC -3'
(R):5'- GCAGATCCTGAATGCAGCAG -3'

Sequencing Primer
(F):5'- GTGACTCATCATGCCCTTGTAG -3'
(R):5'- CTGAATGCAGCAGGGGGAG -3'

Posted On

2016-11-21